Name

GEO Signatures of Differentially Expressed Genes for Kinase Perturbations Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following kinase perturbation (inhibition, activation, knockdown, knockout, over-expression, mutation)

LINCS Kinativ Kinase Inhibitor Bioactivity Profiles Dataset

From LINCS Kinativ

Percent inhibition of kinases by small molecules measured in cell lysates

LINCS KinomeScan Kinase Inhibitor Targets Dataset

From LINCS KinomeScan

Kinase inhibitor targets from percent inhibition of kinases by small molecules measured using purified kinases

Kinase Library Serine Threonine Kinome Atlas Dataset

From Kinase Library

A phosphoproteomics atlas detailing phosphorylation of protein substrates by 303 serine/threonine kinases in the human kinome.

Kinase Library Tyrosine Kinome Atlas Dataset

From Kinase Library

A phosphoproteomics atlas detailing phosphorylation of protein substrates by 93 canonical and non-canonical tyrosine kinases in the human kinome.

KEA Substrates of Kinases Dataset

From Kinase Enrichment Analysis

Protein substrates of kinases from published low-throughput and high-throughput phosphoproteomics studies

PHKA2 Gene

phosphorylase kinase, alpha 2 (liver)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

PYGL Gene

phosphorylase, glycogen, liver

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

CIRH1A Gene

cirrhosis, autosomal recessive 1A (cirhin)

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

PBC3 Gene

Biliary cirrhosis, primary, 3

PBC2 Gene

Biliary cirrhosis, primary, 2

PBC5 Gene

Biliary cirrhosis, primary, 5

PBC4 Gene

Biliary cirrhosis, primary, 4

PKLR Gene

pyruvate kinase, liver and RBC

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CALM2 Gene

calmodulin 2 (phosphorylase kinase, delta)

This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

CALM3 Gene

calmodulin 3 (phosphorylase kinase, delta)

This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]

CALM1 Gene

calmodulin 1 (phosphorylase kinase, delta)

This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]

LOC100421425 Gene

calmodulin 2 (phosphorylase kinase, delta) pseudogene

PHKG1P2 Gene

phosphorylase kinase, gamma 1 pseudogene 2

PHKG1P4 Gene

phosphorylase kinase, gamma 1 pseudogene 4

PHKG1P1 Gene

phosphorylase kinase, gamma 1 pseudogene 1

PHKG1P3 Gene

phosphorylase kinase, gamma 1 pseudogene 3

PHKB Gene

phosphorylase kinase, beta

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

CALM1P1 Gene

calmodulin 1 (phosphorylase kinase, delta) pseudogene 1

CALM1P2 Gene

calmodulin 1 (phosphorylase kinase, delta) pseudogene 2

PHKA1P1 Gene

phosphorylase kinase, alpha 1 pseudogene 1

PHKG2 Gene

phosphorylase kinase, gamma 2 (testis)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

PHKG1 Gene

phosphorylase kinase, gamma 1 (muscle)

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

LOC100130849 Gene

phosphorylase kinase, gamma 1 (muscle) pseudogene

PHKBP1 Gene

phosphorylase kinase, beta pseudogene 1

PHKBP2 Gene

phosphorylase kinase, beta pseudogene 2

PHKA1 Gene

phosphorylase kinase, alpha 1 (muscle)

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

MAP4K1 Gene

mitogen-activated protein kinase kinase kinase kinase 1

Enables ATP binding activity and MAP kinase kinase kinase kinase activity. Involved in several processes, including JNK cascade; cellular response to phorbol 13-acetate 12-myristate; and protein phosphorylation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

MAP4K3 Gene

mitogen-activated protein kinase kinase kinase kinase 3

This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MAP4K2 Gene

mitogen-activated protein kinase kinase kinase kinase 2

The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MAP4K5 Gene

mitogen-activated protein kinase kinase kinase kinase 5

This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

MAP4K4 Gene

mitogen-activated protein kinase kinase kinase kinase 4

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

LVCAT8 Gene

liver cancer-associated transcript 8

LVCAT1 Gene

liver cancer-associated transcript 1

ALPL Gene

alkaline phosphatase, liver/bone/kidney

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

LVCAT5 Gene

liver cancer-associated transcript 5

CDH17 Gene

cadherin 17, LI cadherin (liver-intestine)

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GFER Gene

growth factor, augmenter of liver regeneration

The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]

PFKL Gene

phosphofructokinase, liver

This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

RNASE2 Gene

ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)

The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]

COX7A2P2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2

Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex. [provided by Alliance of Genome Resources, Mar 2025]

GYS2 Gene

glycogen synthase 2 (liver)

The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]

ECRP Gene

ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) pseudogene

NAFLD2 Gene

Fatty liver disease, nonalcoholic, susceptibility to, 2

NAFLD1 Gene

Fatty liver disease 1, susceptiblity to

CPT1A Gene

carnitine palmitoyltransferase 1A (liver)

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FABP1 Gene

fatty acid binding protein 1, liver

This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]

GLS2 Gene

glutaminase 2 (liver, mitochondrial)

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

LRLE1 Gene

liver-related low express protein 1

COX7A2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver)

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

COX7A2P1 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1

LEAP2 Gene

liver expressed antimicrobial peptide 2

This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]

GDPGP1 Gene

GDP-D-glucose phosphorylase 1

Enables GDP-D-glucose phosphorylase activity. Involved in glucose metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TYMP Gene

thymidine phosphorylase

This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]

MTAPP2 Gene

methylthioadenosine phosphorylase pseudogene 2

MTAPP1 Gene

methylthioadenosine phosphorylase pseudogene 1

PNP Gene

purine nucleoside phosphorylase

This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

LOC647275 Gene

purine nucleoside phosphorylase pseudogene

PYGB Gene

phosphorylase, glycogen; brain

The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]

PYGM Gene

phosphorylase, glycogen, muscle

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

UPP2 Gene

uridine phosphorylase 2

Enables deoxyuridine phosphorylase activity; identical protein binding activity; and uridine phosphorylase activity. Involved in dCMP catabolic process and uridine catabolic process. Located in type III intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]

UPP1 Gene

uridine phosphorylase 1

This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]

MTAP Gene

methylthioadenosine phosphorylase

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]

MAP3K10 Gene

mitogen-activated protein kinase kinase kinase 10

The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]

MAP3K13 Gene

mitogen-activated protein kinase kinase kinase 13

The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]

MAP3K19 Gene

mitogen-activated protein kinase kinase kinase 19

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in MAPK cascade. [provided by Alliance of Genome Resources, Mar 2025]

MAP3K11 Gene

mitogen-activated protein kinase kinase kinase 11

The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]

MAP3K12 Gene

mitogen-activated protein kinase kinase kinase 12

This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]

MAP3K15 Gene

mitogen-activated protein kinase kinase kinase 15

The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]

MAP3K8 Gene

mitogen-activated protein kinase kinase kinase 8

This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAP3K9 Gene

mitogen-activated protein kinase kinase kinase 9

Enables molecular function activator activity and protein serine/threonine kinase activity. Involved in protein autophosphorylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MAP3K2 Gene

mitogen-activated protein kinase kinase kinase 2

The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]

MAP3K3 Gene

mitogen-activated protein kinase kinase kinase 3

This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

MAP3K1 Gene

mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

MAP3K7 Gene

mitogen-activated protein kinase kinase kinase 7

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAP3K4 Gene

mitogen-activated protein kinase kinase kinase 4

The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]

MAP3K5 Gene

mitogen-activated protein kinase kinase kinase 5

Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]

MAP3K6 Gene

mitogen-activated protein kinase kinase kinase 6

This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAP3K14 Gene

mitogen-activated protein kinase kinase kinase 14

This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]

MAP3K20 Gene

mitogen-activated protein kinase kinase kinase 20

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MAP3K21 Gene

mitogen-activated protein kinase kinase kinase 21

Predicted to enable JUN kinase kinase kinase activity and protein homodimerization activity. Predicted to be involved in protein autophosphorylation and signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CAMKK2 Gene

calcium/calmodulin-dependent protein kinase kinase 2, beta

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]

CAMKK1 Gene

calcium/calmodulin-dependent protein kinase kinase 1, alpha

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

NUCKS1 Gene

nuclear casein kinase and cyclin-dependent kinase substrate 1

This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]

MKNK2 Gene

MAP kinase interacting serine/threonine kinase 2

This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]

MKNK1 Gene

MAP kinase interacting serine/threonine kinase 1

This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]

MAPKAPK5 Gene

mitogen-activated protein kinase-activated protein kinase 5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

MAPKAPK3 Gene

mitogen-activated protein kinase-activated protein kinase 3

This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAPKAPK2 Gene

mitogen-activated protein kinase-activated protein kinase 2

This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100996792 Gene

dual specificity mitogen-activated protein kinase kinase 3

SMG1 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

MAP2K4P1 Gene

mitogen-activated protein kinase kinase 4 pseudogene 1

MAP2K3 Gene

mitogen-activated protein kinase kinase 3

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]

MAP2K2 Gene

mitogen-activated protein kinase kinase 2

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]

MAP2K1 Gene

mitogen-activated protein kinase kinase 1

The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]

MAP2K7 Gene

mitogen-activated protein kinase kinase 7

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAP2K6 Gene

mitogen-activated protein kinase kinase 6

This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]

MAP2K5 Gene

mitogen-activated protein kinase kinase 5

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]

MAP2K4 Gene

mitogen-activated protein kinase kinase 4

This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

MKNK2P1 Gene

MAP kinase interacting serine/threonine kinase 2 pseudogene 1

LOC100422438 Gene

mitogen-activated protein kinase-activated protein kinase 2 pseudogene

MAPKAPK5P1 Gene

mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1

LOC100422558 Gene

SMG1 phosphatidylinositol 3-kinase-related kinase pseudogene

DTYMK Gene

deoxythymidylate kinase (thymidylate kinase)

Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

PACSIN1 Gene

protein kinase C and casein kinase substrate in neurons 1

Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PACSIN3 Gene

protein kinase C and casein kinase substrate in neurons 3

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PACSIN2 Gene

protein kinase C and casein kinase substrate in neurons 2

This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

CDKL1 Gene

cyclin-dependent kinase-like 1 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]

CDKL2 Gene

cyclin-dependent kinase-like 2 (CDC2-related kinase)

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

MAP2K1P1 Gene

mitogen-activated protein kinase kinase 1 pseudogene 1

LOC407835 Gene

mitogen-activated protein kinase kinase 2 pseudogene

CKS1B Gene

CDC28 protein kinase regulatory subunit 1B

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

CLK2P1 Gene

CDC-like kinase 2, pseudogene 1

PRKAR2A Gene

protein kinase, cAMP-dependent, regulatory, type II, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, regulatory, type II, beta

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

LOC105378950 Gene

mitogen-activated protein kinase 7-like

PDK1 Gene

pyruvate dehydrogenase kinase, isozyme 1

Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

PDK3 Gene

pyruvate dehydrogenase kinase, isozyme 3

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

PDK2 Gene

pyruvate dehydrogenase kinase, isozyme 2

This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

PDK4 Gene

pyruvate dehydrogenase kinase, isozyme 4

This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]

SH3KBP1 Gene

SH3-domain kinase binding protein 1

This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

LOC100129843 Gene

pyruvate dehydrogenase kinase, isozyme 1 pseudogene

KIDINS220 Gene

kinase D-interacting substrate, 220kDa

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

LOC642490 Gene

S-phase kinase-associated protein 1 pseudogene

CSNK1G1 Gene

casein kinase 1, gamma 1

This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]

CSNK1A1L Gene

casein kinase 1, alpha 1-like

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway and signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RIPK1 Gene

receptor (TNFRSF)-interacting serine-threonine kinase 1

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]

RIPK3 Gene

receptor-interacting serine-threonine kinase 3

The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]

RIPK2 Gene

receptor-interacting serine-threonine kinase 2

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]

LOC731755 Gene

eukaryotic translation initiation factor 2-alpha kinase 1 pseudogene

SRCIN1 Gene

SRC kinase signaling inhibitor 1

Enables protein kinase binding activity. Involved in several processes, including postsynaptic actin cytoskeleton organization; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]

LOC646012 Gene

aurora kinase A interacting protein 1 pseudogene

PDXK Gene

pyridoxal (pyridoxine, vitamin B6) kinase

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

SLK Gene

STE20-like kinase

Enables protein homodimerization activity and protein serine/threonine kinase activity. Involved in several processes, including cytoplasmic microtubule organization; protein autophosphorylation; and regulation of focal adhesion assembly. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ROS1 Gene

ROS proto-oncogene 1 , receptor tyrosine kinase

This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]

MARK4 Gene

MAP/microtubule affinity-regulating kinase 4

This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

MARK1 Gene

MAP/microtubule affinity-regulating kinase 1

Enables several functions, including ATP binding activity; magnesium ion binding activity; and phospholipid binding activity. Involved in intracellular signal transduction; negative regulation of epithelial to mesenchymal transition; and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MARK2 Gene

MAP/microtubule affinity-regulating kinase 2

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

MARK3 Gene

MAP/microtubule affinity-regulating kinase 3

The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

IRAK1BP1 Gene

interleukin-1 receptor-associated kinase 1 binding protein 1

Predicted to enable signaling adaptor activity. Predicted to be involved in canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

MYLK4 Gene

myosin light chain kinase family, member 4

Predicted to enable myosin light chain kinase activity. Predicted to be involved in signal transduction. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MYLK2 Gene

myosin light chain kinase 2

This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

MYLK3 Gene

myosin light chain kinase 3

Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]

MOB2 Gene

MOB kinase activator 2

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within actin cytoskeleton organization; positive regulation of neuron projection development; and positive regulation of protein phosphorylation. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DCK Gene

deoxycytidine kinase

Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]

LOC105378176 Gene

proline-rich receptor-like protein kinase PERK2

MOK Gene

MOK protein kinase

This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

CKMT2 Gene

creatine kinase, mitochondrial 2 (sarcomeric)

Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

CDK2AP1 Gene

cyclin-dependent kinase 2 associated protein 1

The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

CDK2AP2 Gene

cyclin-dependent kinase 2 associated protein 2

This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

CKMT1A Gene

creatine kinase, mitochondrial 1A

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

CKMT1B Gene

creatine kinase, mitochondrial 1B

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

RYK Gene

receptor-like tyrosine kinase

The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

NADK2 Gene

NAD kinase 2, mitochondrial

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

TAB3P1 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1

GNE Gene

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PDPK2P Gene

3-phosphoinositide dependent protein kinase 2, pseudogene

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Mar 2025]

LYN Gene

LYN proto-oncogene, Src family tyrosine kinase

This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

IP6K3 Gene

inositol hexakisphosphate kinase 3

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

IP6K2 Gene

inositol hexakisphosphate kinase 2

This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

IP6K1 Gene

inositol hexakisphosphate kinase 1

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

LOC101929421 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

LOC101929483 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

LOC644172 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

STRAP Gene

serine/threonine kinase receptor associated protein

Enables RNA binding activity. Involved in maintenance of gastrointestinal epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; large cell carcinoma; lung carcinoma; and squamous cell neoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ROCK1 Gene

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]

ROCK2 Gene

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

WNK3 Gene

WNK lysine deficient protein kinase 3

This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

MOB1A Gene

MOB kinase activator 1A

The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

MOB1B Gene

MOB kinase activator 1B

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

CDK7PS Gene

cyclin-dependent kinase 7 pseudogene

AGKP1 Gene

acylglycerol kinase pseudogene 1

FGR Gene

FGR proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

ZAK Gene

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC101060637 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

MOB3C Gene

MOB kinase activator 3C

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

LRRK1 Gene

leucine-rich repeat kinase 1

This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]

LRRK2 Gene

leucine-rich repeat kinase 2

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]

LOC392543 Gene

acylglycerol kinase pseudogene

CHKA Gene

choline kinase alpha

The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CHKB Gene

choline kinase beta

Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]

MAPK1IP1L Gene

mitogen-activated protein kinase 1 interacting protein 1-like

CERK Gene

ceramide kinase

CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]

LOC100419356 Gene

ethanolamine kinase 1 pseudogene

CDK20 Gene

cyclin-dependent kinase 20

The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]

PKIG Gene

protein kinase (cAMP-dependent, catalytic) inhibitor gamma

This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PKIA Gene

protein kinase (cAMP-dependent, catalytic) inhibitor alpha

The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

PKIB Gene

protein kinase (cAMP-dependent, catalytic) inhibitor beta

This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MAPK3 Gene

mitogen-activated protein kinase 3

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]

MAPK1 Gene

mitogen-activated protein kinase 1

This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]

MAPK6 Gene

mitogen-activated protein kinase 6

The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]

MAPK4 Gene

mitogen-activated protein kinase 4

Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

MAPK8 Gene

mitogen-activated protein kinase 8

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]

MAPK9 Gene

mitogen-activated protein kinase 9

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]

HCK Gene

HCK proto-oncogene, Src family tyrosine kinase

The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]

BUB1 Gene

BUB1 mitotic checkpoint serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RPS6KB3 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 3

FERP1 Gene

fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1

LOC102723727 Gene

mitogen-activated protein kinase 7-like

CDKN3 Gene

cyclin-dependent kinase inhibitor 3

The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PSKH2 Gene

protein serine kinase H2

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PSKH1 Gene

protein serine kinase H1

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

LOC100996361 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudogene

CKS2 Gene

CDC28 protein kinase regulatory subunit 2

CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]

FASTK Gene

Fas-activated serine/threonine kinase

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]

PGK2 Gene

phosphoglycerate kinase 2

This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]

PGK1 Gene

phosphoglycerate kinase 1

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]

ABL1 Gene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL2 Gene

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

TNNI3K Gene

TNNI3 interacting kinase

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

HIPK2 Gene

homeodomain interacting protein kinase 2

This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

CARKD Gene

carbohydrate kinase domain containing

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

LOC100130466 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

PINK1 Gene

PTEN induced putative kinase 1

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

LOC400026 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene

RPS6KB1 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]

RPS6KB2 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 2

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]

CDK11A Gene

cyclin-dependent kinase 11A

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

CDK11B Gene

cyclin-dependent kinase 11B

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC100130664 Gene

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic pseudogene

CAMK2D Gene

calcium/calmodulin-dependent protein kinase II delta

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]

CAMK2G Gene

calcium/calmodulin-dependent protein kinase II gamma

The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]

CAMK2A Gene

calcium/calmodulin-dependent protein kinase II alpha

The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]

CAMK2B Gene

calcium/calmodulin-dependent protein kinase II beta

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

JAK2 Gene

Janus kinase 2

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]

JAK3 Gene

Janus kinase 3

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

JAK1 Gene

Janus kinase 1

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

PRKDC Gene

protein kinase, DNA-activated, catalytic polypeptide

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

PRKAR1AP Gene

protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene

PBK Gene

PDZ binding kinase

This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PRKD1 Gene

protein kinase D1

The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]

PRKD2 Gene

protein kinase D2

The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PRKD3 Gene

protein kinase D3

This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]

JAKMIP3 Gene

Janus kinase and microtubule interacting protein 3

Predicted to enable kinase binding activity and microtubule binding activity. Predicted to be located in Golgi apparatus and membrane. [provided by Alliance of Genome Resources, Mar 2025]

JAKMIP2 Gene

janus kinase and microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

JAKMIP1 Gene

janus kinase and microtubule interacting protein 1

Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

NRK Gene

Nik related kinase

The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]

LOC646801 Gene

pantothenate kinase 3 pseudogene

LOC100420990 Gene

aurora kinase A interacting protein 1 pseudogene

CDK2AP2P1 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 1

CDK2AP2P3 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 3

DCLK1 Gene

doublecortin-like kinase 1

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]

DCLK3 Gene

doublecortin-like kinase 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in protein localization to nucleus. Predicted to act upstream of or within negative regulation of protein localization to nucleus and peptidyl-serine phosphorylation. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DCLK2 Gene

doublecortin-like kinase 2

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]

CNKSR1 Gene

connector enhancer of kinase suppressor of Ras 1

This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CNKSR2 Gene

connector enhancer of kinase suppressor of Ras 2

This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

IKBKAP Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

STK38L Gene

serine/threonine kinase 38 like

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in intracellular signal transduction and negative regulation of autophagy. Acts upstream of or within protein phosphorylation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

PRKRAP1 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1

MAPKBP1 Gene

mitogen-activated protein kinase binding protein 1

This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

GRK6 Gene

G protein-coupled receptor kinase 6

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GRK7 Gene

G protein-coupled receptor kinase 7

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]

GRK4 Gene

G protein-coupled receptor kinase 4

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GRK5 Gene

G protein-coupled receptor kinase 5

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]

GRK1 Gene

G protein-coupled receptor kinase 1

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

DAPK3 Gene

death-associated protein kinase 3

Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]

DAPK2 Gene

death-associated protein kinase 2

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

DAPK1 Gene

death-associated protein kinase 1

Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ULK2 Gene

unc-51 like autophagy activating kinase 2

This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]

ULK3 Gene

unc-51 like kinase 3

Enables protein serine/threonine kinase activity. Involved in several processes, including fibroblast activation; protein autophosphorylation; and regulation of smoothened signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ULK1 Gene

unc-51 like autophagy activating kinase 1

Enables identical protein binding activity; protein serine/threonine kinase activity; and small GTPase binding activity. Involved in several processes, including protein phosphorylation; regulation of autophagy; and regulation of protein lipidation. Located in bounding membrane of organelle; cytosol; and phagophore assembly site membrane. Part of Atg1/ULK1 kinase complex and phagophore assembly site. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ULK4 Gene

unc-51 like kinase 4

This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]

STK19 Gene

serine/threonine kinase 19

This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]

STK10 Gene

serine/threonine kinase 10

This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]

STK11 Gene

serine/threonine kinase 11

The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]

STK16 Gene

serine/threonine kinase 16

Predicted to enable protein serine/threonine kinase activity. Involved in protein autophosphorylation. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100736408 Gene

NAD kinase 2, mitochondrial pseudogene

PRKCSH Gene

protein kinase C substrate 80K-H

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CERKL Gene

ceramide kinase-like

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

LOC105370944 Gene

inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1-like

MAPK8IPP Gene

mitogen-activated protein kinase 8 interacting protein, pseudogene

PI4KAP2 Gene

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2

Predicted to enable kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421536 Gene

diphosphoinositol pentakisphosphate kinase 2 pseudogene

IKBKG Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

PIK3IP1 Gene

phosphoinositide-3-kinase interacting protein 1

Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421494 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

NIM1K Gene

NIM1 serine/threonine protein kinase

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1G2 Gene

casein kinase 1, gamma 2

Enables protein serine/threonine kinase activity. Predicted to be involved in endocytosis; positive regulation of canonical Wnt signaling pathway; and signal transduction. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1G3 Gene

casein kinase 1, gamma 3

This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PRKACG Gene

protein kinase, cAMP-dependent, catalytic, gamma

Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]

PRKACA Gene

protein kinase, cAMP-dependent, catalytic, alpha

This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]

PRKACB Gene

protein kinase, cAMP-dependent, catalytic, beta

The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]

LOC100418693 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene

LOC100418694 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene

ALPK1 Gene

alpha-kinase 1

This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ALPK3 Gene

alpha-kinase 3

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in familial hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1A1 Gene

casein kinase 1, alpha 1

Enables protein serine/threonine kinase activity. Involved in several processes, including peptidyl-serine phosphorylation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and regulation of signal transduction. Located in cytoskeleton; cytosol; and nucleus. Part of beta-catenin destruction complex. Biomarker of Alzheimer's disease and inclusion body myositis. [provided by Alliance of Genome Resources, Mar 2025]

PRKCDBP Gene

protein kinase C, delta binding protein

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

SKP1P3 Gene

S-phase kinase-associated protein 1 pseudogene 3

SKP1P2 Gene

S-phase kinase-associated protein 1 pseudogene 2

LOC101154643 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene

MARCKS Gene

myristoylated alanine-rich protein kinase C substrate

The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]

CLK3P1 Gene

CDC-like kinase 3 pseudogene 1

ADRBK1 Gene

adrenergic, beta, receptor kinase 1

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

ADRBK2 Gene

adrenergic, beta, receptor kinase 2

The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]

PRKRIR Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)

Predicted to enable several functions, including DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1A1P3 Gene

casein kinase 1, alpha 1 pseudogene 3

CSNK1A1P2 Gene

casein kinase 1, alpha 1 pseudogene 2

CSNK1A1P1 Gene

casein kinase 1, alpha 1 pseudogene 1

LOC100313968 Gene

riboflavin kinase pseudogene

TTBK2 Gene

tau tubulin kinase 2

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]

TTBK1 Gene

tau tubulin kinase 1

Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

NEK6 Gene

NIMA-related kinase 6

The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NEK7 Gene

NIMA-related kinase 7

NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]

NEK4 Gene

NIMA-related kinase 4

The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]

NEK5 Gene

NIMA-related kinase 5

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity and positive regulation of striated muscle cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

NEK2 Gene

NIMA-related kinase 2

This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]

NEK3 Gene

NIMA-related kinase 3

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]

NEK8 Gene

NIMA-related kinase 8

This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]

NEK9 Gene

NIMA-related kinase 9

This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]

BMX Gene

BMX non-receptor tyrosine kinase

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

AK2P2 Gene

adenylate kinase 2 pseudogene 2

AURKA Gene

aurora kinase A

The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

AURKB Gene

aurora kinase B

This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

AURKC Gene

aurora kinase C

This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

AXL Gene

AXL receptor tyrosine kinase

The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]

SKAP2 Gene

src kinase associated phosphoprotein 2

The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

SKAP1 Gene

src kinase associated phosphoprotein 1

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]

STK11IP Gene

serine/threonine kinase 11 interacting protein

Enables protein kinase binding activity. Involved in protein localization. Located in cytoplasm and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

TBK1 Gene

TANK-binding kinase 1

The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]

MET Gene

MET proto-oncogene, receptor tyrosine kinase

This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]

LMTK3 Gene

lemur tyrosine kinase 3

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in Golgi membrane; axon; and dendrite. [provided by Alliance of Genome Resources, Mar 2025]

LMTK2 Gene

lemur tyrosine kinase 2

The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]

TLK2P1 Gene

tousled-like kinase 2 pseudogene 1

MYLKP1 Gene

myosin light chain kinase pseudogene 1 (functional)

CLK1 Gene

CDC-like kinase 1

This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

CLK2 Gene

CDC-like kinase 2

This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

CLK3 Gene

CDC-like kinase 3

This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]

CLK4 Gene

CDC-like kinase 4

The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]

MTOR Gene

mechanistic target of rapamycin (serine/threonine kinase)

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]

ROR2 Gene

receptor tyrosine kinase-like orphan receptor 2

The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

ROR1 Gene

receptor tyrosine kinase-like orphan receptor 1

This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012]

LOC100420035 Gene

phosphoglycerate kinase 1 pseudogene

STRADBP1 Gene

STE20-related kinase adaptor beta pseudogene 1

PIP4K2A Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, alpha

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

PIP4K2C Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, gamma

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PIP4K2B Gene

phosphatidylinositol-5-phosphate 4-kinase, type II, beta

The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]

PRKG1 Gene

protein kinase, cGMP-dependent, type I

Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

PRKG2 Gene

protein kinase, cGMP-dependent, type II

This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]

LOC100418961 Gene

aurora kinase A pseudogene

PEAK1 Gene

pseudopodium-enriched atypical kinase 1

This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]

LOC648774 Gene

polo-like kinase 1 (Drosophila) pseudogene

AKAP11 Gene

A kinase (PRKA) anchor protein 11

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]

MAPK14 Gene

mitogen-activated protein kinase 14

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAPK15 Gene

mitogen-activated protein kinase 15

Enables MAP kinase activity and chromatin binding activity. Involved in several processes, including dopamine uptake; protein localization to ciliary transition zone; and regulation of organelle organization. Located in several cellular components, including Golgi apparatus; autophagosome; and microtubule organizing center. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

MAPK10 Gene

mitogen-activated protein kinase 10

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

MAPK11 Gene

mitogen-activated protein kinase 11

This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

MAPK12 Gene

mitogen-activated protein kinase 12

Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]

MAPK13 Gene

mitogen-activated protein kinase 13

This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

CKS1BP4 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 4

TYRO3 Gene

TYRO3 protein tyrosine kinase

The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]

AK9 Gene

adenylate kinase 9

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

AK8 Gene

adenylate kinase 8

Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

TBCK Gene

TBC1 domain containing kinase

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

AK3 Gene

adenylate kinase 3

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AK2 Gene

adenylate kinase 2

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

AK1 Gene

adenylate kinase 1

This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

AK4 Gene

adenylate kinase 4

This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]

LOC100419916 Gene

cyclin-dependent kinase 8 pseudogene

BCKDK Gene

branched chain ketoacid dehydrogenase kinase

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

SKP1 Gene

S-phase kinase-associated protein 1

This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

BMP2K Gene

BMP2 inducible kinase

This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NME2P1 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1

Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in regulation of apoptotic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CMPK1 Gene

cytidine monophosphate (UMP-CMP) kinase 1, cytosolic

This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]

CMPK2 Gene

cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

TYK2 Gene

tyrosine kinase 2

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]

PIK3C2B Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]

PIK3C2A Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]

PIK3C2G Gene

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PRKRA Gene

protein kinase, interferon-inducible double stranded RNA dependent activator

This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

PIP5K1P1 Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1

PIP5K1P2 Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2

LOC100288125 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

LOC728098 Gene

mitogen-activated protein kinase 1 interacting protein 1-like pseudogene

LOC100499399 Gene

adenylate kinase 3 pseudogene

AK6P2 Gene

adenylate kinase 6 pseudogene 2

AK6P1 Gene

adenylate kinase 6 pseudogene 1

GSK3A Gene

glycogen synthase kinase 3 alpha

This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]

GSK3B Gene

glycogen synthase kinase 3 beta

The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]

LOC102724428 Gene

serine/threonine-protein kinase SIK1

RFKP1 Gene

riboflavin kinase pseudogene 1

LOC100131680 Gene

52 kDa repressor of the inhibitor of the protein kinase-like

LOC100129948 Gene

riboflavin kinase pseudogene

TESK1 Gene

testis-specific kinase 1

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

TESK2 Gene

testis-specific kinase 2

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

STK25P1 Gene

serine/threonine kinase 25 pseudogene 1

ITPKA Gene

inositol-trisphosphate 3-kinase A

Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]

ITPKC Gene

inositol-trisphosphate 3-kinase C

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

ITPKB Gene

inositol-trisphosphate 3-kinase B

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]

PKM Gene

pyruvate kinase, muscle

This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]

ITPK1 Gene

inositol-tetrakisphosphate 1-kinase

This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]

LOC642355 Gene

nucleoside diphosphate kinase, mitochondrial-like

LOC105379534 Gene

proline-rich receptor-like protein kinase PERK2

LIMK2 Gene

LIM domain kinase 2

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LIMK1 Gene

LIM domain kinase 1

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]

LOC100289315 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

PIK3R6 Gene

phosphoinositide-3-kinase, regulatory subunit 6

Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PIK3R5 Gene

phosphoinositide-3-kinase, regulatory subunit 5

Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

PIK3R4 Gene

phosphoinositide-3-kinase, regulatory subunit 4

Predicted to enable protein serine/threonine kinase activity. Involved in several processes, including early endosome to late endosome transport; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and phosphatidylinositol-3-phosphate biosynthetic process. Located in late endosome and microtubule cytoskeleton. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]

PIK3R3 Gene

phosphoinositide-3-kinase, regulatory subunit 3 (gamma)

Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]

PIK3R2 Gene

phosphoinositide-3-kinase, regulatory subunit 2 (beta)

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]

PIK3R1 Gene

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

TSKS Gene

testis-specific serine kinase substrate

This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]

FER Gene

fer (fps/fes related) tyrosine kinase

The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]

FES Gene

FES proto-oncogene, tyrosine kinase

This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]

MAPK8IP1 Gene

mitogen-activated protein kinase 8 interacting protein 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]

MAPK8IP2 Gene

mitogen-activated protein kinase 8 interacting protein 2

This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]

MAPK8IP3 Gene

mitogen-activated protein kinase 8 interacting protein 3

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

LOC158948 Gene

protein kinase C, iota pseudogene

PRKAR1A Gene

protein kinase, cAMP-dependent, regulatory, type I, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1B Gene

protein kinase, cAMP-dependent, regulatory, type I, beta

The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]

DCAKD Gene

dephospho-CoA kinase domain containing

Enables dephospho-CoA kinase activity. Predicted to be involved in coenzyme A biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

SKP1P1 Gene

S-phase kinase-associated protein 1 pseudogene 1

TK2 Gene

thymidine kinase 2, mitochondrial

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

TK1 Gene

thymidine kinase 1, soluble

The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]

IPPK Gene

inositol 1,3,4,5,6-pentakisphosphate 2-kinase

The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]

RPS6KL1 Gene

ribosomal protein S6 kinase-like 1

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC100422375 Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha pseudogene

AKAP8L Gene

A kinase (PRKA) anchor protein 8-like

Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including cell cycle G2/M phase transition; mitotic chromosome condensation; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

NAMA Gene

non-protein coding RNA, associated with MAP kinase pathway and growth arrest

MLKL Gene

mixed lineage kinase domain-like

This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]

MOB1AP2 Gene

MOB kinase activator 1A pseudogene 2

MOB1AP1 Gene

MOB kinase activator 1A pseudogene 1

CASK Gene

calcium/calmodulin-dependent serine protein kinase (MAGUK family)

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

HUNK Gene

hormonally up-regulated Neu-associated kinase

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SBK1 Gene

SH3 domain binding kinase 1

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

STRADB Gene

STE20-related kinase adaptor beta

This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

KIAA1804 Gene

mixed lineage kinase 4

Predicted to enable JUN kinase kinase kinase activity and protein homodimerization activity. Predicted to be involved in protein autophosphorylation and signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BRAF Gene

B-Raf proto-oncogene, serine/threonine kinase

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]

RIOK3 Gene

RIO kinase 3

This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]

RIOK1 Gene

RIO kinase 1

The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]

CAMK2N2 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 2

This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]

CAMK2N1 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 1

Predicted to enable calcium-dependent protein kinase inhibitor activity and protein kinase binding activity. Predicted to be involved in long-term memory and positive regulation of inflammatory response. Predicted to be located in neuronal cell body and synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; papillary thyroid carcinoma; and prostate cancer. [provided by Alliance of Genome Resources, Mar 2025]

NMRK2 Gene

nicotinamide riboside kinase 2

Enables ribosylnicotinamide kinase activity and ribosylnicotinate kinase activity. Predicted to be involved in NAD metabolic process. Predicted to act upstream of or within negative regulation of myoblast differentiation. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

NMRK1 Gene

nicotinamide riboside kinase 1

Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]

MARCKSP1 Gene

myristoylated alanine-rich protein kinase C substrate pseudogene 1

FLJ25758 Gene

MAP/microtubule affinity-regulating kinase 1 pseudogene

TXK Gene

TXK tyrosine kinase

Predicted to enable non-membrane spanning protein tyrosine kinase activity. Involved in positive regulation of macromolecule biosynthetic process; positive regulation of type II interferon-mediated signaling pathway; and protein autophosphorylation. Located in cytosol; nuclear lumen; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC105371128 Gene

serine/threonine-protein kinase SMG1-like

AK4P4 Gene

adenylate kinase 4 pseudogene 4

SGK2 Gene

serum/glucocorticoid regulated kinase 2

This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

NRGN Gene

neurogranin (protein kinase C substrate, RC3)

Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]

PXK Gene

PX domain containing serine/threonine kinase

This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PPIP5K2 Gene

diphosphoinositol pentakisphosphate kinase 2

This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

PPIP5K1 Gene

diphosphoinositol pentakisphosphate kinase 1

This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

LOC100422398 Gene

protein kinase, cAMP-dependent, regulatory, type II, beta pseudogene

GIT1 Gene

G protein-coupled receptor kinase interacting ArfGAP 1

Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

GIT2 Gene

G protein-coupled receptor kinase interacting ArfGAP 2

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]

CSNK1G2P1 Gene

casein kinase 1, gamma 2 pseudogene 1

WNK4 Gene

WNK lysine deficient protein kinase 4

This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]

STK32C Gene

serine/threonine kinase 32C

The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

STK32B Gene

serine/threonine kinase 32B

This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

STK32A Gene

serine/threonine kinase 32A

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100419969 Gene

myosin light chain kinase pseudogene

MAPK6PS6 Gene

mitogen-activated protein kinase 6 pseudogene 6

MAPK6PS3 Gene

mitogen-activated protein kinase 6 pseudogene 3

TSSK1A Gene

testis-specific serine kinase 1A pseudogene

TSSK1B Gene

testis-specific serine kinase 1B

TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

CSNK2B Gene

casein kinase 2, beta polypeptide

This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

RIOK2 Gene

RIO kinase 2

Predicted to enable protein kinase activity. Involved in several processes, including positive regulation of rRNA processing; positive regulation of ribosomal small subunit export from nucleus; and regulation of mitotic metaphase/anaphase transition. Located in cytoplasm. Part of preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Mar 2025]

DYRK3 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3

This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DYRK2 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2

DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]

DYRK4 Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4

This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

GK Gene

glycerol kinase

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

FLT4 Gene

fms-related tyrosine kinase 4

This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]

FLT1 Gene

fms-related tyrosine kinase 1

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]

PRKY Gene

protein kinase, Y-linked, pseudogene

This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

PRKX Gene

protein kinase, X-linked

This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

PFKFB1 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1

This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]

PFKFB3 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

PFKFB2 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PFKFB4 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

MASTL Gene

microtubule associated serine/threonine kinase-like

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]

MAST1 Gene

microtubule associated serine/threonine kinase 1

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

MAST2 Gene

microtubule associated serine/threonine kinase 2

Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

MAST3 Gene

microtubule associated serine/threonine kinase 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Mar 2025]

MAST4 Gene

microtubule associated serine/threonine kinase family member 4

This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

LCK Gene

LCK proto-oncogene, Src family tyrosine kinase

This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]

GRK6P1 Gene

G protein-coupled receptor kinase 6 pseudogene 1

CAMK1G Gene

calcium/calmodulin-dependent protein kinase IG

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in Golgi membrane and plasma membrane. Predicted to be part of calcium- and calmodulin-dependent protein kinase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DGKZ Gene

diacylglycerol kinase, zeta

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]

DGKQ Gene

diacylglycerol kinase, theta 110kDa

The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]

DGKK Gene

diacylglycerol kinase, kappa

The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]

DGKH Gene

diacylglycerol kinase, eta

This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

DGKI Gene

diacylglycerol kinase, iota

This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]

DGKB Gene

diacylglycerol kinase, beta 90kDa

Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

DGKA Gene

diacylglycerol kinase, alpha 80kDa

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]

DGKG Gene

diacylglycerol kinase, gamma 90kDa

This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DGKD Gene

diacylglycerol kinase, delta 130kDa

This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DGKE Gene

diacylglycerol kinase, epsilon 64kDa

Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]

ICK Gene

intestinal cell (MAK-like) kinase

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

NME1P1 Gene

NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1

LOC392226 Gene

serine/threonine-protein kinase PLK1-like

CDK5R1 Gene

cyclin-dependent kinase 5, regulatory subunit 1 (p35)

The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]

MELK Gene

maternal embryonic leucine zipper kinase

Enables calcium ion binding activity; non-membrane spanning protein tyrosine kinase activity; and protein serine/threonine kinase activity. Involved in apoptotic process; cell population proliferation; and protein autophosphorylation. Located in cell cortex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

CKBE Gene

creatine kinase, ectopic expression

STK19B Gene

serine/threonine kinase 19B, pseudogene

PRKRIRP8 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8

PRKRIRP9 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9

PRKRIRP1 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1

PRKRIRP2 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2

PRKRIRP3 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3

PRKRIRP4 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4

PRKRIRP5 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5

PRKRIRP6 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6

PRKRIRP7 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7

LOC101929775 Gene

C-Jun-amino-terminal kinase-interacting protein 1-like

IBTK Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

MYLK Gene

myosin light chain kinase

This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]

STK31 Gene

serine/threonine kinase 31

This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

STK33 Gene

serine/threonine kinase 33

Enables protein serine/threonine kinase activity. Involved in spermatogenesis. Predicted to be located in manchette. Predicted to be active in cytoplasm and nucleus. Implicated in colorectal cancer; depressive disorder; and spermatogenic failure 93. [provided by Alliance of Genome Resources, Mar 2025]

STK35 Gene

serine/threonine kinase 35

The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]

STK36 Gene

serine/threonine kinase 36

This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

STK38 Gene

serine/threonine kinase 38

This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

MINK1 Gene

misshapen-like kinase 1

This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

BORA Gene

bora, aurora kinase A activator

BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]

CSNK2A3 Gene

casein kinase 2, alpha 3 polypeptide

This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]

CSNK2A2 Gene

casein kinase 2, alpha prime polypeptide

This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]

CSNK2A1 Gene

casein kinase 2, alpha 1 polypeptide

Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]

SPHK2 Gene

sphingosine kinase 2

This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

SPHK1 Gene

sphingosine kinase 1

The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

BEGAIN Gene

brain-enriched guanylate kinase-associated

Predicted to enable kinase activity. Predicted to be involved in evoked excitatory postsynaptic potential and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in dendrite; nucleus; and presynapse. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

LOC100533949 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

ZAP70 Gene

zeta-chain (TCR) associated protein kinase 70kDa

This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

PIKFYVE Gene

phosphoinositide kinase, FYVE finger containing

Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021]

PRKXP1 Gene

protein kinase, X-linked, pseudogene 1

PRKXP2 Gene

protein kinase, X-linked, pseudogene 2

PMVK Gene

phosphomevalonate kinase

This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

PSTK Gene

phosphoseryl-tRNA kinase

Predicted to enable kinase activity and tRNA binding activity. Predicted to be involved in translation. Predicted to act upstream of or within selenocysteine incorporation. [provided by Alliance of Genome Resources, Mar 2025]

CDK18 Gene

cyclin-dependent kinase 18

Predicted to enable cyclin-dependent protein serine/threonine kinase activity. Involved in positive regulation of myelination. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CDK19 Gene

cyclin-dependent kinase 19

This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

CDK12 Gene

cyclin-dependent kinase 12

Enables RNA polymerase II CTD heptapeptide repeat kinase activity and cyclin binding activity. Involved in several processes, including positive regulation of transcription elongation by RNA polymerase II; protein autophosphorylation; and regulation of MAP kinase activity. Located in nuclear speck. Part of cyclin K-CDK12 complex. Biomarker of gastric adenocarcinoma; hepatocellular carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]

CDK13 Gene

cyclin-dependent kinase 13

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]

CDK10 Gene

cyclin-dependent kinase 10

The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

CDK16 Gene

cyclin-dependent kinase 16

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]

CDK17 Gene

cyclin-dependent kinase 17

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]

CDK14 Gene

cyclin-dependent kinase 14

Enables cyclin binding activity and cyclin-dependent protein serine/threonine kinase activity. Involved in G2/M transition of mitotic cell cycle and regulation of canonical Wnt signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Part of cytoplasmic cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Mar 2025]

CDK15 Gene

cyclin-dependent kinase 15

Enables protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle phase transition. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SGK494 Gene

uncharacterized serine/threonine-protein kinase SgK494

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

PTK2 Gene

protein tyrosine kinase 2

This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]

PTK7 Gene

protein tyrosine kinase 7 (inactive)

This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PTK6 Gene

protein tyrosine kinase 6

The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PRKAA2 Gene

protein kinase, AMP-activated, alpha 2 catalytic subunit

The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]

PRKAA1 Gene

protein kinase, AMP-activated, alpha 1 catalytic subunit

The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

STK16P1 Gene

serine/threonine kinase 16 pseudogene 1

HIPK3 Gene

homeodomain interacting protein kinase 3

Enables protein serine/threonine kinase activity. Involved in mRNA transcription; negative regulation of apoptotic process; and protein phosphorylation. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

HIPK1 Gene

homeodomain interacting protein kinase 1

The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]

HIPK4 Gene

homeodomain interacting protein kinase 4

This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]

CDKN1C Gene

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

CDKN1B Gene

cyclin-dependent kinase inhibitor 1B (p27, Kip1)

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

CDKN1A Gene

cyclin-dependent kinase inhibitor 1A (p21, Cip1)

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]

PLK1 Gene

polo-like kinase 1

The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]

PLK3 Gene

polo-like kinase 3

The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]

PLK2 Gene

polo-like kinase 2

The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

PLK5 Gene

polo-like kinase 5

Predicted to enable ATP binding activity and protein kinase activity. Involved in several processes, including defense response to tumor cell; positive regulation of neuron projection development; and regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PLK4 Gene

polo-like kinase 4

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

ANKK1 Gene

ankyrin repeat and kinase domain containing 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

AURKAIP1 Gene

aurora kinase A interacting protein 1

Acts upstream of or within positive regulation of proteolysis. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RIOK3P1 Gene

RIO kinase 3 pseudogene 1

LATS2 Gene

large tumor suppressor kinase 2

This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]

LATS1 Gene

large tumor suppressor kinase 1

The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]

LOC646214 Gene

p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene

LOC391349 Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta pseudogene

AK2P1 Gene

adenylate kinase 2 pseudogene 1

SRPK2P Gene

SRSF protein kinase 2 pseudogene

IBTKP1 Gene

inhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1

CDK8PS Gene

cyclin-dependent kinase 8 pseudogene

PKN1 Gene

protein kinase N1

The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PKN3 Gene

protein kinase N3

Predicted to enable protein serine/threonine kinase activity. Involved in epithelial cell migration. Predicted to be located in Golgi apparatus; cytosol; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

PKN2 Gene

protein kinase N2

Enables RNA polymerase binding activity; histone deacetylase binding activity; and protein serine/threonine kinase activity. Involved in several processes, including apical junction assembly; positive regulation of cell cycle; and positive regulation of viral genome replication. Located in several cellular components, including cleavage furrow; cytoskeleton; and midbody. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

CSNK1D Gene

casein kinase 1, delta

This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

CSNK1E Gene

casein kinase 1, epsilon

The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]

PDK1P1 Gene

pyruvate dehydrogenase kinase, isozyme 1 pseudogene 1

CIT Gene

citron rho-interacting serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

TSSK2 Gene

testis-specific serine kinase 2

TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

LOC100652794 Gene

UMP-CMP kinase pseudogene

RPS6KA1 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 1

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

RPS6KA2 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 2

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]

RPS6KA3 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 3

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

RPS6KA4 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 4

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

RPS6KA5 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 5

Enables ATP binding activity and protein kinase activity. Involved in several processes, including interleukin-1-mediated signaling pathway; protein modification process; and regulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RPS6KA6 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 6

This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010]

MARK2P12 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 12

ETNK2 Gene

ethanolamine kinase 2

The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ETNK1 Gene

ethanolamine kinase 1

This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

STRADA Gene

STE20-related kinase adaptor alpha

The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]

PNKP Gene

polynucleotide kinase 3'-phosphatase

This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]

LOC100422399 Gene

protein kinase, cAMP-dependent, regulatory, type II, beta pseudogene

CAMK1D Gene

calcium/calmodulin-dependent protein kinase ID

This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]

MAPK6PS4 Gene

mitogen-activated protein kinase 6 pseudogene 4

MAPK6PS5 Gene

mitogen-activated protein kinase 6 pseudogene 5

MAPK6PS2 Gene

mitogen-activated protein kinase 6 pseudogene 2

MAPK6PS1 Gene

mitogen-activated protein kinase 6 pseudogene 1

TLK1 Gene

tousled-like kinase 1

The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

TLK2 Gene

tousled-like kinase 2

This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

BUB1B Gene

BUB1 mitotic checkpoint serine/threonine kinase B

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

STK3 Gene

serine/threonine kinase 3

This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

STK4 Gene

serine/threonine kinase 4

The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]

AURKBPS1 Gene

aurora kinase B pseudogene 1

SGK3 Gene

serum/glucocorticoid regulated kinase family, member 3

This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AKIP1 Gene

A kinase (PRKA) interacting protein 1

This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

MARK2P8 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 8

MARK2P9 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 9

MARK2P4 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 4

MARK2P5 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 5

MARK2P6 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 6

MARK2P7 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 7

MARK2P1 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 1

MARK2P2 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 2

MARK2P3 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 3

HYKK Gene

hydroxylysine kinase

Enables hydroxylysine kinase activity. Predicted to be involved in lysine catabolic process. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

VRK1 Gene

vaccinia related kinase 1

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]

VRK3 Gene

vaccinia related kinase 3

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

VRK2 Gene

vaccinia related kinase 2

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]

ALPK2 Gene

alpha-kinase 2

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PNCK Gene

pregnancy up-regulated nonubiquitous CaM kinase

PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]

NAGK Gene

N-acetylglucosamine kinase

This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]

WNK2 Gene

WNK lysine deficient protein kinase 2

The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

WNK1 Gene

WNK lysine deficient protein kinase 1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

LOC100421508 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

LOC100421505 Gene

MAP/microtubule affinity-regulating kinase 4 pseudogene

MUSK Gene

muscle, skeletal, receptor tyrosine kinase

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

RAF1 Gene

Raf-1 proto-oncogene, serine/threonine kinase

This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]

IPPKP1 Gene

inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1

STK24P1 Gene

serine/threonine kinase 24 pseudogene 1

LOC100419318 Gene

FAST kinase domains 3 pseudogene

KSR1 Gene

kinase suppressor of ras 1

Enables 14-3-3 protein binding activity and ATP binding activity. Involved in positive regulation of MAPK cascade. Located in cytosol; endoplasmic reticulum; and membrane. Part of protein-containing complex. Implicated in breast adenocarcinoma. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

KSR2 Gene

kinase suppressor of ras 2

Enables protein serine/threonine kinase activity. Predicted to be involved in Ras protein signal transduction; calcium-mediated signaling; and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be located in membrane. Predicted to be active in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287419 Gene

cyclin-dependent kinase 8 pseudogene

TAOK3 Gene

TAO kinase 3

The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]

PRKAB2 Gene

protein kinase, AMP-activated, beta 2 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

PRKAB1 Gene

protein kinase, AMP-activated, beta 1 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]

DDR2 Gene

discoidin domain receptor tyrosine kinase 2

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

DDR1 Gene

discoidin domain receptor tyrosine kinase 1

Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

LOC100418685 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418686 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418687 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

FN3K Gene

fructosamine 3 kinase

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]

MATK Gene

megakaryocyte-associated tyrosine kinase

The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

TEC Gene

tec protein tyrosine kinase

The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]

FN3KRP Gene

fructosamine 3 kinase related protein

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CDKN2B Gene

cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)

This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

CDKN2D Gene

cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

LOC100421583 Gene

hormonally up-regulated Neu-associated kinase pseudogene

NME4 Gene

NME/NM23 nucleoside diphosphate kinase 4

The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]

NME6 Gene

NME/NM23 nucleoside diphosphate kinase 6

Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]

NME1 Gene

NME/NM23 nucleoside diphosphate kinase 1

This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]

NME2 Gene

NME/NM23 nucleoside diphosphate kinase 2

Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010]

NME3 Gene

NME/NM23 nucleoside diphosphate kinase 3

Enables nucleoside diphosphate kinase activity. Involved in DNA repair; mitochondrial fusion; and nucleoside triphosphate biosynthetic process. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421558 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

PKMYT1 Gene

protein kinase, membrane associated tyrosine/threonine 1

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

CHEK2P2 Gene

checkpoint kinase 2 pseudogene 2

CHEK2P1 Gene

checkpoint kinase 2 pseudogene 1

DSTYK Gene

dual serine/threonine and tyrosine protein kinase

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

BLK Gene

BLK proto-oncogene, Src family tyrosine kinase

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

IRAK2 Gene

interleukin-1 receptor-associated kinase 2

IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]

IRAK3 Gene

interleukin-1 receptor-associated kinase 3

This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

IRAK1 Gene

interleukin-1 receptor-associated kinase 1

This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IRAK4 Gene

interleukin-1 receptor-associated kinase 4

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

TNK2 Gene

tyrosine kinase, non-receptor, 2

This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

TNK1 Gene

tyrosine kinase, non-receptor, 1

The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

HGS Gene

hepatocyte growth factor-regulated tyrosine kinase substrate

The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]

LOC100421504 Gene

MAP/microtubule affinity-regulating kinase 4 pseudogene

TP53RK Gene

TP53 regulating kinase

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Mar 2025]

GAK Gene

cyclin G associated kinase

In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GK6P Gene

glycerol kinase 6 pseudogene

BTK Gene

Bruton agammaglobulinemia tyrosine kinase

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

DGKZP1 Gene

diacylglycerol kinase, zeta pseudogene 1

NEK10 Gene

NIMA-related kinase 10

Enables protein kinase activity. Involved in several processes, including mucociliary clearance; positive regulation of protein phosphorylation; and regulation of ERK1 and ERK2 cascade. Part of protein kinase complex. Implicated in primary ciliary dyskinesia 44. [provided by Alliance of Genome Resources, Mar 2025]

NEK11 Gene

NIMA-related kinase 11

This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

ADK Gene

adenosine kinase

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

LOC100419901 Gene

casein kinase 1, alpha 1 pseudogene

KALRN Gene

kalirin, RhoGEF kinase

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

UCKL1 Gene

uridine-cytidine kinase 1-like 1

The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

IKBKB Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta

The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]

IKBKE Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon

IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]

DYRK1A Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A

This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]

DYRK1B Gene

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B

This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

MADD Gene

MAP-kinase activating death domain

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

RFK Gene

riboflavin kinase

Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]

ADCK4 Gene

aarF domain containing kinase 4

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

ADCK5 Gene

aarF domain containing kinase 5

Predicted to enable protein serine/threonine kinase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ADCK2 Gene

aarF domain containing kinase 2

Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in regulation of ubiquinone biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ADCK3 Gene

aarF domain containing kinase 3

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

ADCK1 Gene

aarF domain containing kinase 1

Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in negative regulation of mitochondrial fusion and positive regulation of cristae formation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

PASK Gene

PAS domain containing serine/threonine kinase

This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SIK1 Gene

salt-inducible kinase 1

This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]

SIK3 Gene

SIK family kinase 3

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in positive regulation of TORC1 signaling; positive regulation of TORC2 signaling; and protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

SIK2 Gene

salt-inducible kinase 2

Enables ATP binding activity; magnesium ion binding activity; and protein kinase activity. Involved in intracellular signal transduction and protein autophosphorylation. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

NEK1 Gene

NIMA-related kinase 1

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AKAP14 Gene

A kinase (PRKA) anchor protein 14

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AKAP12 Gene

A kinase (PRKA) anchor protein 12

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP13 Gene

A kinase (PRKA) anchor protein 13

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]

AKAP10 Gene

A kinase (PRKA) anchor protein 10

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

CKS1BP7 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 7

CKS1BP6 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 6

CKS1BP5 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 5

CKS1BP3 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 3

CKS1BP2 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 2

CKS1BP1 Gene

CDC28 protein kinase regulatory subunit 1B pseudogene 1

UHMK1 Gene

U2AF homology motif (UHM) kinase 1

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NUAK1 Gene

NUAK family, SNF1-like kinase, 1

Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation; regulation of cell adhesion; and regulation of cellular senescence. Located in cytoplasm; microtubule cytoskeleton; and nuclear lumen. Implicated in uterine fibroid. Biomarker of uterine fibroid. [provided by Alliance of Genome Resources, Mar 2025]

NUAK2 Gene

NUAK family, SNF1-like kinase, 2

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including cellular response to glucose starvation; protein phosphorylation; and regulation of hippo signaling. Located in nuclear speck. Implicated in anencephaly. [provided by Alliance of Genome Resources, Mar 2025]

MERTK Gene

MER proto-oncogene, tyrosine kinase

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

YES1 Gene

YES proto-oncogene 1, Src family tyrosine kinase

This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]

NEK4P1 Gene

NIMA-related kinase 4 pseudogene 1

LOC390877 Gene

adenylate kinase isoenzyme 1-like

PKDCC Gene

protein kinase domain containing, cytoplasmic

Enables non-membrane spanning protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation and skeletal system development. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

NYAP1 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

NYAP2 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

MVK Gene

mevalonate kinase

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CDK5PS Gene

cyclin-dependent kinase 5 pseudogene

ALK Gene

anaplastic lymphoma receptor tyrosine kinase

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

AK4P1 Gene

adenylate kinase 4 pseudogene 1

AK4P3 Gene

adenylate kinase 4 pseudogene 3

Predicted to enable nucleobase-containing compound kinase activity and purine ribonucleoside triphosphate binding activity. Predicted to be involved in nucleotide metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

AK4P2 Gene

adenylate kinase 4 pseudogene 2

AK4P5 Gene

adenylate kinase 4 pseudogene 5

AK4P6 Gene

adenylate kinase 4 pseudogene 6

STK17B Gene

serine/threonine kinase 17b

Enables ATP binding activity and protein serine/threonine kinase activity. Involved in intracellular signal transduction; positive regulation of fibroblast apoptotic process; and protein phosphorylation. Located in Flemming body and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

STK17A Gene

serine/threonine kinase 17a

This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]

SRMS Gene

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

Enables protein tyrosine kinase activity. Involved in peptidyl-tyrosine autophosphorylation and positive regulation of TORC1 signaling. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PPIP5K1P1 Gene

diphosphoinositol pentakisphosphate kinase 1 pseudogene 1

AURKAPS1 Gene

aurora kinase A pseudogene 1

AURKAPS2 Gene

aurora kinase A pseudogene 2

ROCK1P1 Gene

Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1

STKLD1 Gene

serine/threonine kinase-like domain containing 1

Predicted to enable protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Mar 2025]

LOC101928016 Gene

adenylate kinase isoenzyme 6 pseudogene

CAMK1 Gene

calcium/calmodulin-dependent protein kinase I

Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]

CAMK4 Gene

calcium/calmodulin-dependent protein kinase IV

The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]

CAMKV Gene

CaM kinase-like vesicle-associated

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in cytoplasm; glutamatergic synapse; and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

STK40 Gene

serine/threonine kinase 40

Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in regulation of MAPK cascade. Predicted to act upstream of or within several processes, including glycogen metabolic process; lung development; and respiratory system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LRGUK Gene

leucine-rich repeats and guanylate kinase domain containing

Predicted to enable guanylate kinase activity. Predicted to be involved in axoneme assembly and spermatogenesis. Predicted to be located in acrosomal vesicle and manchette. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

KNDC1 Gene

kinase non-catalytic C-lobe domain (KIND) containing 1

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]

FLT3 Gene

fms-related tyrosine kinase 3

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]

SBK2 Gene

SH3 domain binding kinase family, member 2

Predicted to enable MAP kinase kinase activity. Predicted to be involved in MAPK cascade. [provided by Alliance of Genome Resources, Mar 2025]

SBK3 Gene

SH3 domain binding kinase family, member 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

TSSK6 Gene

testis-specific serine kinase 6

This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]

SRC Gene

SRC proto-oncogene, non-receptor tyrosine kinase

This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

TSSK4 Gene

testis-specific serine kinase 4

This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

TSSK3 Gene

testis-specific serine kinase 3

This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]

EIF2AK1 Gene

eukaryotic translation initiation factor 2-alpha kinase 1

The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

EIF2AK3 Gene

eukaryotic translation initiation factor 2-alpha kinase 3

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]

EIF2AK2 Gene

eukaryotic translation initiation factor 2-alpha kinase 2

The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]

EIF2AK4 Gene

eukaryotic translation initiation factor 2 alpha kinase 4

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]

MARK2P16 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 16

MARK2P17 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 17

MARK2P14 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 14

MARK2P15 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 15

MARK2P13 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 13

MARK2P10 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 10

MARK2P11 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene 11

RYKP1 Gene

receptor-like tyrosine kinase pseudogene 1

NTRK1 Gene

neurotrophic tyrosine kinase, receptor, type 1

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]

NTRK2 Gene

neurotrophic tyrosine kinase, receptor, type 2

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

NTRK3 Gene

neurotrophic tyrosine kinase, receptor, type 3

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

AKAP17A Gene

A kinase (PRKA) anchor protein 17A

This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]

WEE1 Gene

WEE1 G2 checkpoint kinase

This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]

AKAP4 Gene

A kinase (PRKA) anchor protein 4

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AKAP5 Gene

A kinase (PRKA) anchor protein 5

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]

AKAP6 Gene

A kinase (PRKA) anchor protein 6

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

AKAP7 Gene

A kinase (PRKA) anchor protein 7

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

AKAP1 Gene

A kinase (PRKA) anchor protein 1

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

AKAP2 Gene

A kinase (PRKA) anchor protein 2

The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

AKAP3 Gene

A kinase (PRKA) anchor protein 3

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

AKAP8 Gene

A kinase (PRKA) anchor protein 8

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

AKAP9 Gene

A kinase (PRKA) anchor protein 9

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

UCK1 Gene

uridine-cytidine kinase 1

This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

UCK2 Gene

uridine-cytidine kinase 2

This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

PIP5KL1 Gene

phosphatidylinositol-4-phosphate 5-kinase-like 1

PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]

GUK1 Gene

guanylate kinase 1

The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

GUK2 Gene

guanylate kinase 2

ATM Gene

ATM serine/threonine kinase

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

ATR Gene

ATR serine/threonine kinase

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]

TAOK1 Gene

TAO kinase 1

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in microtubule cytoskeleton and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TAOK2 Gene

TAO kinase 2

Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; cytosol; and nuclear lumen. Part of receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

ERBB2 Gene

erb-b2 receptor tyrosine kinase 2

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

ERBB3 Gene

erb-b2 receptor tyrosine kinase 3

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

ERBB4 Gene

erb-b2 receptor tyrosine kinase 4

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

AAK1 Gene

AP2 associated kinase 1

This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]

PRKAG1 Gene

protein kinase, AMP-activated, gamma 1 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PRKAG3 Gene

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]

PRKAG2 Gene

protein kinase, AMP-activated, gamma 2 non-catalytic subunit

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

NEK4P2 Gene

NIMA-related kinase 4 pseudogene 2

NEK4P3 Gene

NIMA-related kinase 4 pseudogene 3

POMK Gene

protein-O-mannose kinase

This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

DMPK Gene

dystrophia myotonica-protein kinase

The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]

AUNIP Gene

aurora kinase A and ninein interacting protein

Enables damaged DNA binding activity. Involved in double-strand break repair via homologous recombination; negative regulation of double-strand break repair via nonhomologous end joining; and spindle organization. Located in centrosome; site of DNA damage; and spindle pole. [provided by Alliance of Genome Resources, Mar 2025]

PGK1P1 Gene

phosphoglycerate kinase 1, pseudogene 1

PGK1P2 Gene

phosphoglycerate kinase 1, pseudogene 2

GK3P Gene

glycerol kinase 3 pseudogene

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

TLK2P2 Gene

tousled-like kinase 2 pseudogene 2

ITK Gene

IL2-inducible T-cell kinase

This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

LOC100271842 Gene

phosphatidylinositol 4-kinase type 2 beta pseudogene

AGK Gene

acylglycerol kinase

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

PIK3CA Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

PIK3CD Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]

PIK3CG Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]

LOC100420480 Gene

polo-like kinase 4 (Drosophila) pseudogene

PIK3C3 Gene

phosphatidylinositol 3-kinase, catalytic subunit type 3

Enables 1-phosphatidylinositol-3-kinase activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol-3-phosphate biosynthetic process. Acts upstream of or within autophagy and positive regulation of protein lipidation. Located in autolysosome; late endosome; and midbody. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]

MAK Gene

male germ cell-associated kinase

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

LOC100128939 Gene

pyruvate dehydrogenase kinase, isozyme 3 pseudogene

BMP2KL Gene

BMP2 inducible kinase-like, pseudogene

LOC105371179 Gene

proline-rich receptor-like protein kinase PERK2

PAK4 Gene

p21 protein (Cdc42/Rac)-activated kinase 4

PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PAK6 Gene

p21 protein (Cdc42/Rac)-activated kinase 6

This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

PAK7 Gene

p21 protein (Cdc42/Rac)-activated kinase 7

The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

PAK1 Gene

p21 protein (Cdc42/Rac)-activated kinase 1

This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

PAK2 Gene

p21 protein (Cdc42/Rac)-activated kinase 2

The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]

PAK3 Gene

p21 protein (Cdc42/Rac)-activated kinase 3

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]

GLYCTK Gene

glycerate kinase

This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

GKAP1 Gene

G kinase anchoring protein 1

This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

FYN Gene

FYN proto-oncogene, Src family tyrosine kinase

This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]

CKB Gene

creatine kinase, brain

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]

CKM Gene

creatine kinase, muscle

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]

RPS6KC1 Gene

ribosomal protein S6 kinase, 52kDa, polypeptide 1

Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]

MAPKAP1 Gene

mitogen-activated protein kinase associated protein 1

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

DOLK Gene

dolichol kinase

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]

TYRO3P Gene

TYRO3P protein tyrosine kinase pseudogene

PKMP1 Gene

pyruvate kinase, muscle pseudogene 1

PKMP3 Gene

pyruvate kinase, muscle pseudogene 3

PKMP2 Gene

pyruvate kinase, muscle pseudogene 2

PKMP5 Gene

pyruvate kinase, muscle pseudogene 5

TAB3 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 3

The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TAB2 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 2

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

TAB1 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 1

The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

EEF2K Gene

eukaryotic elongation factor 2 kinase

This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]

BUB1P1 Gene

BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1

SGK1 Gene

serum/glucocorticoid regulated kinase 1

This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

LOC100421602 Gene

CDC42 binding protein kinase beta (DMPK-like) pseudogene

STYK1 Gene

serine/threonine/tyrosine kinase 1

Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]

TEK Gene

TEK tyrosine kinase, endothelial

This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

CDK1 Gene

cyclin-dependent kinase 1

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2023]

CDK2 Gene

cyclin-dependent kinase 2

This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

CDK3 Gene

cyclin-dependent kinase 3

This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008]

CDK4 Gene

cyclin-dependent kinase 4

The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]

CDK5 Gene

cyclin-dependent kinase 5

This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

CDK6 Gene

cyclin-dependent kinase 6

The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]

CDK7 Gene

cyclin-dependent kinase 7

The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]

CDK8 Gene

cyclin-dependent kinase 8

This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

CDK9 Gene

cyclin-dependent kinase 9

The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]

PRKCI Gene

protein kinase C, iota

This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]

PRKCH Gene

protein kinase C, eta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

PRKCA Gene

protein kinase C, alpha

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]

PRKCB Gene

protein kinase C, beta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PRKCE Gene

protein kinase C, epsilon

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]

PRKCD Gene

protein kinase C, delta

The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]

PRKCG Gene

protein kinase C, gamma

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

PRKCZ Gene

protein kinase C, zeta

Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PRKCQ Gene

protein kinase C, theta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]

SYK Gene

spleen tyrosine kinase

This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

FGGY Gene

FGGY carbohydrate kinase domain containing

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ILK Gene

integrin-linked kinase

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FLT3LG Gene

fms-related tyrosine kinase 3 ligand

Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]

SNRK Gene

SNF related kinase

SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]

PI4K2B Gene

phosphatidylinositol 4-kinase type 2 beta

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]

PI4K2A Gene

phosphatidylinositol 4-kinase type 2 alpha

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

BRSK2 Gene

BR serine/threonine kinase 2

Enables several functions, including ATP binding activity; ATPase binding activity; and magnesium ion binding activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

BRSK1 Gene

BR serine/threonine kinase 1

Enables magnesium ion binding activity and tau-protein kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC101929242 Gene

S-phase kinase-associated protein 1 pseudogene

DGUOK Gene

deoxyguanosine kinase

In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

LOC100421108 Gene

inositol 1,3,4-triphosphate 5/6 kinase pseudogene

AKAP8P1 Gene

A kinase (PRKA) anchor protein 8 pseudogene 1

PIK3AP1 Gene

phosphoinositide-3-kinase adaptor protein 1

Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; regulation of inflammatory response; and regulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

LOC102723432 Gene

serine/threonine-protein kinase PAK 2 pseudogene

MOB3B Gene

MOB kinase activator 3B

The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]

MOB3A Gene

MOB kinase activator 3A

Predicted to enable protein kinase activator activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

AKAP17BP Gene

A kinase (PRKA) anchor protein 17B, pseudogene

MARK3P1 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 1

MARK3P3 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 3

MARK3P2 Gene

MAP/microtubule affinity-regulating kinase 3 pseudogene 2

MNAT1 Gene

MNAT CDK-activating kinase assembly factor 1

The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

LOC100533853 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene

LOC100419851 Gene

protein serine kinase H1 pseudogene

CDK4PS Gene

cyclin-dependent kinase 4 pseudogene

STK26 Gene

serine/threonine protein kinase 26

The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

STK25 Gene

serine/threonine kinase 25

This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

STK24 Gene

serine/threonine kinase 24

This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

CDK5R2 Gene

cyclin-dependent kinase 5, regulatory subunit 2 (p39)

The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]

CDKN2C Gene

cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)

The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]

CDKN2A Gene

cyclin-dependent kinase inhibitor 2A

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

PI4KAP1 Gene

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1

LOC100533950 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100533951 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

PIK3CB Gene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

CLK3P2 Gene

CDC-like kinase 3 pseudogene 2

NLK Gene

nemo-like kinase

Enables DNA-binding transcription factor binding activity; protein serine/threonine kinase activity; and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of TORC1 signaling; protein stabilization; and transforming growth factor beta receptor signaling pathway. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100287072 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudogene

LOC101930123 Gene

eukaryotic elongation factor 2 kinase

CHEK2 Gene

checkpoint kinase 2

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

CHEK1 Gene

checkpoint kinase 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

LOC100533755 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

LOC100288962 Gene

S-phase kinase-associated protein 1 pseudogene

LOC645163 Gene

phosphatidylinositol 4-kinase type 2 alpha pseudogene

LOC105375252 Gene

serine-threonine kinase receptor-associated protein pseudogene

RFKP2 Gene

riboflavin kinase pseudogene 2

FRK Gene

fyn-related Src family tyrosine kinase

The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]

LOC344382 Gene

serine/threonine kinase receptor associated protein pseudogene

LOC100420576 Gene

death-associated protein kinase 1 pseudogene

FLT1P1 Gene

fms-related tyrosine kinase 1 pseudogene 1

PIM2 Gene

Pim-2 proto-oncogene, serine/threonine kinase

This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]

PDPK1 Gene

3-phosphoinositide dependent protein kinase 1

Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of protein kinase activity; and regulation of signal transduction. Acts upstream of or within intracellular signal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

STK33P1 Gene

serine/threonine kinase 33 pseudogene 1

LTK Gene

leukocyte receptor tyrosine kinase

The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

PDIK1L Gene

PDLIM1 interacting kinase 1 like

Predicted to enable eukaryotic translation initiation factor 2alpha kinase activity. Predicted to be involved in regulation of translational initiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PTK2B Gene

protein tyrosine kinase 2 beta

This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CDC42BPG Gene

CDC42 binding protein kinase gamma (DMPK-like)

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading edge; centriolar satellite; and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

CDC42BPA Gene

CDC42 binding protein kinase alpha (DMPK-like)

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]

CDC42BPB Gene

CDC42 binding protein kinase beta (DMPK-like)

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]

CDKL5 Gene

cyclin-dependent kinase-like 5

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

CDKL4 Gene

cyclin-dependent kinase-like 4

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in regulation of cell cycle. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CDKL3 Gene

cyclin-dependent kinase-like 3

The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

BMPR2 Gene

bone morphogenetic protein receptor, type II (serine/threonine kinase)

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

KDR Gene

kinase insert domain receptor

Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

CASKP1 Gene

calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1

LOC139952 Gene

LIM domain kinase 2 pseudogene

ARAF Gene

A-Raf proto-oncogene, serine/threonine kinase

Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

CSK Gene

c-src tyrosine kinase

The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]

FASTKD5 Gene

FAST kinase domains 5

Enables rRNA binding activity. Involved in mitochondrial RNA processing. Located in mitochondrial nucleoid and ribonucleoprotein granule. [provided by Alliance of Genome Resources, Mar 2025]

FASTKD2 Gene

FAST kinase domains 2

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

FASTKD3 Gene

FAST kinase domains 3

This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

FASTKD1 Gene

FAST kinase domains 1

Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

MAPK7 Gene

mitogen-activated protein kinase 7

The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

CHEK2P3 Gene

checkpoint kinase 2 pseudogene 3

MAGI3 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 3

Predicted to enable frizzled binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within positive regulation of JUN kinase activity. Located in cell junction. [provided by Alliance of Genome Resources, Mar 2025]

MAGI2 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 2

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

MAGI1 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 1

The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TNIK Gene

TRAF2 and NCK interacting kinase

Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

CINP Gene

cyclin-dependent kinase 2 interacting protein

The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

DOK1 Gene

docking protein 1, 62kDa (downstream of tyrosine kinase 1)

The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

TTK Gene

TTK protein kinase

This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SRPK1 Gene

SRSF protein kinase 1

This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

SRPK3 Gene

SRSF protein kinase 3

This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

SRPK2 Gene

SRSF protein kinase 2

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including R-loop processing; peptidyl-serine phosphorylation; and regulation of viral genome replication. Located in chromatin; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

TLK1P1 Gene

tousled-like kinase 1 pseudogene 1

LOC100533629 Gene

FAST kinase domains 1 pseudogene

GK4P Gene

glycerol kinase 4 pseudogene

CHUK Gene

conserved helix-loop-helix ubiquitous kinase

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]

TSSK5P Gene

testis-specific serine kinase 5, pseudogene

LOC102724064 Gene

proline-rich receptor-like protein kinase PERK13

STK39 Gene

serine threonine kinase 39

This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]

CKBP1 Gene

creatine kinase B pseudogene 1

PIP5K1C Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

PIP5K1B Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, beta

Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Mar 2025]

PIP5K1A Gene

phosphatidylinositol-4-phosphate 5-kinase, type I, alpha

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

AK3P2 Gene

adenylate kinase 3 pseudogene 2

RIPK4 Gene

receptor-interacting serine-threonine kinase 4

The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]

GK2 Gene

glycerol kinase 2

Predicted to enable glycerol kinase activity. Predicted to be involved in several processes, including glycerol-3-phosphate biosynthetic process; sperm mitochondrial sheath assembly; and triglyceride metabolic process. Located in sperm midpiece. [provided by Alliance of Genome Resources, Mar 2025]

GK5 Gene

glycerol kinase 5 (putative)

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

NADK Gene

NAD kinase

NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]

LOC100421511 Gene

MAP/microtubule affinity-regulating kinase 2 pseudogene

PIM3 Gene

Pim-3 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]

PIM1 Gene

Pim-1 proto-oncogene, serine/threonine kinase

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]

TYROBP Gene

TYRO protein tyrosine kinase binding protein

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

AK7 Gene

adenylate kinase 7

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

AK6 Gene

adenylate kinase 6

This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

AK5 Gene

adenylate kinase 5

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

PANK1 Gene

pantothenate kinase 1

This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]

PANK3 Gene

pantothenate kinase 3

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]

PANK2 Gene

pantothenate kinase 2

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

PANK4 Gene

pantothenate kinase 4

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

PI4KB Gene

phosphatidylinositol 4-kinase, catalytic, beta

Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Mar 2025]

PI4KA Gene

phosphatidylinositol 4-kinase, catalytic, alpha

This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

PRKRIRP10 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10

LOC100419668 Gene

protein kinase C, eta pseudogene

AK3P6 Gene

adenylate kinase 3 pseudogene 6

AK3P4 Gene

adenylate kinase 3 pseudogene 4

AK3P5 Gene

adenylate kinase 3 pseudogene 5

AK3P3 Gene

adenylate kinase 3 pseudogene 3

IKBKGP1 Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1

LOC100289320 Gene

NME/NM23 nucleoside diphosphate kinase 2 pseudogene

GRK2 Gene

G protein-coupled receptor kinase 2

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

RACK1 Gene

receptor for activated C kinase 1

Enables several functions, including cyclin binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in several processes, including regulation of protein metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Mar 2025]

DIPK1B Gene

divergent protein kinase domain 1B

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

DIPK1A Gene

divergent protein kinase domain 1A

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

PRAG1 Gene

PEAK1 related, kinase-activating pseudokinase 1

This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]

PAK5 Gene

p21 (RAC1) activated kinase 5

The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

DIPK2A Gene

divergent protein kinase domain 2A

Involved in several processes, including cardiac muscle cell proliferation; negative regulation of smooth muscle cell apoptotic process; and positive regulation of protein kinase C activity. Located in Golgi membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Mar 2025]

FCSK Gene

fucose kinase

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]

GRK3 Gene

G protein-coupled receptor kinase 3

The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]

HASPIN Gene

histone H3 associated protein kinase

Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

CSNKA2IP Gene

casein kinase 2 subunit alpha' interacting protein

Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GASK1B Gene

golgi associated kinase 1B

Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

GK3 Gene

glycerol kinase 3

Predicted to enable glycerol kinase activity. Predicted to be involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CILK1 Gene

ciliogenesis associated kinase 1

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

HYCC2 Gene

hyccin PI4KA lipid kinase complex subunit 2

Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Predicted to be located in cytosol and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

DIPK2B Gene

divergent protein kinase domain 2B

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

GASK1A Gene

golgi associated kinase 1A

Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

HYCC1 Gene

hyccin PI4KA lipid kinase complex subunit 1

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

DIPK1C Gene

divergent protein kinase domain 1C

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

AKAIN1 Gene

A-kinase anchor inhibitor 1

Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

RSKR Gene

ribosomal protein S6 kinase related

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

CSNK2A2IP Gene

casein kinase 2 subunit alpha' interacting protein

Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]

AKAP19 Gene

A-kinase anchoring protein 19

LMTK1 Gene

lemur tail kinase 1

The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

avitaminosis; carcinoma, hepatocellular; fatty liver; hepatitis, chronic; hyperhomocysteinemia; lcc - liver cell carcinoma; liver cirrhosis; liver diseases; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease avitaminosis; carcinoma, hepatocellular; fatty liver; hepatitis, chronic; hyperhomocysteinemia; lcc - liver cell carcinoma; liver cirrhosis; liver diseases; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholangitis, sclerosing; fatty liver; hepatitis b, chronic; hepatitis c, chronic; hepatitis, autoimmune; hepatitis, chronic; liver cirrhosis, alcoholic; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis; liver cirrhosis, alcoholic; liver failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis; liver cirrhosis, alcoholic; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver failure; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver failure; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; fatty liver; iron overload; liver cirrhosis; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; liver cirrhosis; liver cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; liver cirrhosis; liver cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; fatty liver; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; fatty liver; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver cirrhosis, alcoholic; liver diseases, alcoholic; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver cirrhosis, alcoholic; liver diseases, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms; siderosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms; siderosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthralgia; carcinoma, hepatocellular; hemochromatosis; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthralgia; carcinoma, hepatocellular; hemochromatosis; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; iron overload; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; liver carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; fibrosis; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; fibrosis; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; liver carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; hepatitis c, chronic; liver carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; cholangitis, sclerosing; cystic fibrosis; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

biliary cirrhosis; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

biliary cirrhosis; liver cirrhosis, biliary; osteoporosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; liver cirrhosis, biliary; osteoporosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease biliary cirrhosis; hepatitis, autoimmune; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

alcoholic liver diseases; carcinoma, hepatocellular; lcc - liver cell carcinoma; liver diseases, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; carcinoma, hepatocellular; lcc - liver cell carcinoma; liver diseases, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Deficiency Of Phosphorylase Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Phosphorylase Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glycogen phosphorylase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen phosphorylase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

map kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Mitogen-activated protein (MAP) kinase kinase kinase kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MAP kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

MAP kinase kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; hepatitis c, chronic; hyperhomocysteinemia; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hepatitis c, chronic; hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; hemochromatosis; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; hypertension, portal; liver cirrhosis; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; hypertension, portal; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver cirrhosis, alcoholic; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis, alcoholic; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; liver cirrhosis; liver failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; liver cirrhosis; obesity, morbid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; liver cirrhosis; obesity, morbid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; hepatitis c, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; insulin resistance; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; insulin resistance; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; liver cirrhosis; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, alcoholic; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis; liver neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phosphorylase kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

phosphorylase kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphorylase kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

phosphorylase kinase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the phosphorylase kinase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

phosphorylase kinase regulator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphorylase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Phosphorylase kinase alpha/beta subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphorylase kinase alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphorylase kinase, gamma catalytic subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphorylase kinase, gamma catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

phosphorylase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

phosphorylase kinase regulator activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

phosphorylase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the phosphorylase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

phosphorylase kinase regulator activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the phosphorylase kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Phosphorylase kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Phosphorylase kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Phosphorylase kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Phosphorylase kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to adenylate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Purine-Nucleoside Phosphorylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Purine-Nucleoside Phosphorylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Mitogen-activated protein (MAP) kinase kinase kinase, MLK1/MLK2/MLK4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase, MLK1/MLK2/MLK4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 13 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 12 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 7 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 14 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein (MAP) kinase kinase kinase 10 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein (MAP) kinase kinase kinase 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitogen-activated protein kinase kinase kinase 12/13 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitogen-activated protein kinase kinase kinase 12/13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade Gene Set

From PANTHER Pathways

proteins participating in the Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade pathway from the PANTHER Pathways dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

MAP kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

JUN kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

mitogen-activated protein kinase kinase kinase binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the mitogen-activated protein kinase kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

MAP kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

JUN kinase kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the JUN kinase kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Liver Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Liver Cirrhosis, Alcoholic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Alcoholic from the curated CTD Gene-Disease Associations dataset.

Liver Cirrhosis, Experimental Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Experimental from the curated CTD Gene-Disease Associations dataset.

Liver Cirrhosis, Biliary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Cirrhosis, Biliary from the curated CTD Gene-Disease Associations dataset.

Liver Cirrhosis, Biliary Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Liver Cirrhosis, Biliary in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

liver cirrhosis Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

alcoholic liver cirrhosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

liver cirrhosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

helicobacter infections; liver cirrhosis; peptic ulcer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease helicobacter infections; liver cirrhosis; peptic ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ascites; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ascites; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, alcoholic; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b; hepatitis b, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary; liver disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatopulmonary syndrome; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatopulmonary syndrome; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; hiv infections; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; hiv infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, biliary; pruritus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, biliary; pruritus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis; liver cancer; hepatitis c, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; liver cancer; hepatitis c, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcohol-induced disorders; esophageal neoplasms; liver cirrhosis, alcoholic; oesophageal neoplasm; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcohol-induced disorders; esophageal neoplasms; liver cirrhosis, alcoholic; oesophageal neoplasm; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis, alcoholic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis, alcoholic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

esophageal and gastric varices; gastrointestinal hemorrhage; liver cirrhosis; postoperative complications; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease esophageal and gastric varices; gastrointestinal hemorrhage; liver cirrhosis; postoperative complications; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; liver cirrhosis, alcoholic; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver disease, chronic and cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver disease, chronic and cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; bone necrosis; liver cirrhosis; osteonecrosis; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; bone necrosis; liver cirrhosis; osteonecrosis; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic; liver cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatic encephalopathy; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatic encephalopathy; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b; cirrhosis; liver cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertriglyceridemia; liver cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertriglyceridemia; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; liver cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis; liver cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; liver cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, alcoholic; pancreatitis, alcoholic; pancreatitis, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; liver cirrhosis; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; hepatitis c, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bacterial infections; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bacterial infections; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b; hepatitis, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; hepatitis, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholangitis, sclerosing; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholangitis, sclerosing; inflammatory bowel disease, nos; inflammatory bowel diseases; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; liver cirrhosis; recurrence; weight gain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; liver cirrhosis; recurrence; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic; liver disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis; schistosomiasis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; schistosomiasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver cirrhosis; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver cirrhosis; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; liver cirrhosis; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bacterial infections; liver cirrhosis; peritonitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bacterial infections; liver cirrhosis; peritonitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension, portal; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension, portal; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disease models, animal; hemochromatosis; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disease models, animal; hemochromatosis; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis, autoimmune; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis, autoimmune; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; diabetic angiopathies; diabetic neuropathies; diabetic retinopathy; glucose intolerance; hemochromatosis; liver cirrhosis; proteinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; diabetic angiopathies; diabetic neuropathies; diabetic retinopathy; glucose intolerance; hemochromatosis; liver cirrhosis; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; hyperhomocysteinemia; liver cirrhosis, alcoholic; protein-energy malnutrition Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; hyperhomocysteinemia; liver cirrhosis, alcoholic; protein-energy malnutrition in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; iron overload; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; iron overload; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hemochromatosis; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hemochromatosis; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis b; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis b; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Hepatitis C induced liver cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

liver cirrhosis Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease liver cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Liver Cirrhosis Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Liver Cirrhosis, Alcoholic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis, Alcoholic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Liver Cirrhosis, Biliary Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Liver Cirrhosis, Biliary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

liver cirrhosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Liver Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Cirrhosis, Experimental Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Cirrhosis, Experimental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Cirrhosis, Alcoholic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Cirrhosis, Alcoholic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Decompensated Cirrhosis Of Liver Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decompensated Cirrhosis Of Liver in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

liver cirrhosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the liver cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Liver cirrhosis Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Alcoholic liver cirrhosis Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Alcoholic liver cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Liver cirrhosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Alcoholic liver cirrhosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Alcoholic liver cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hepatitis C induced liver cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hepatitis C induced liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

phosphorylase Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term phosphorylase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

glycogen phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

purine-nucleoside phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

s-methyl-5-thioadenosine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the s-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

uridine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyrimidine-nucleoside phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

gdp-d-glucose phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the gdp-d-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

thymidine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine-nucleoside phosphorylase, bacterial/eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Purine nucleoside phosphorylase I, inosine/guanosine-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase I, inosine/guanosine-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

PNP/MTAP phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the PNP/MTAP phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Purine nucleoside phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Thymidine/pyrimidine-nucleoside phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thymidine/pyrimidine-nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Uridine phosphorylase, eukaryotic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Uridine phosphorylase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methylthioadenosine phosphorylase (MTAP) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylthioadenosine phosphorylase (MTAP) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyrimidine-nucleoside phosphorylase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine-nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoside phosphorylase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GDP-L-galactose/GDP-D-glucose phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GDP-L-galactose/GDP-D-glucose phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Purine phosphorylase, family 2, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine phosphorylase, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycogen/starch/alpha-glucan phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycogen/starch/alpha-glucan phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoside phosphorylase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoside phosphorylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoside phosphorylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyrimidine nucleoside phosphorylase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyrimidine nucleoside phosphorylase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

decreased purine-nucleoside phosphorylase activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal purine-nucleoside phosphorylase activity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

uridine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

deoxyuridine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

purine-nucleoside phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glycogen phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

thymidine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

1,4-alpha-oligoglucan phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

GDP-D-glucose phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

S-methyl-5-thioadenosine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

guanosine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

[phosphorylase] phosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

decreased purine-nucleoside phosphorylase activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased purine-nucleoside phosphorylase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

uridine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the uridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

deoxyuridine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the deoxyuridine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

purine-nucleoside phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the purine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glycogen phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glycogen phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

thymidine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the thymidine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

1,4-alpha-oligoglucan phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 1,4-alpha-oligoglucan phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

GDP-D-glucose phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the GDP-D-glucose phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

S-methyl-5-thioadenosine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the S-methyl-5-thioadenosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

guanosine phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the guanosine phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

[phosphorylase] phosphatase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the [phosphorylase] phosphatase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

pyrimidine-nucleoside phosphorylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the pyrimidine-nucleoside phosphorylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Scid Due To Ada Deficiency, Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antibody Deficiency Due To Defect In Cd19 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Anemia Due To Hexokinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Developmental And Speech Delay Due To Sox5 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomalacia Due To Vitamin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to HRG deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive thrombophilia due to protein C deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein C deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein S deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SCID due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive ataxia due to ubiquinone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to acid maltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to ficolin3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone secretagogue receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Interstitial lung disease due to ABCA3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to leptin receptor gene deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to partial GHR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Leigh syndrome due to mitochondrial complex IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to pro-opiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gaucher disease due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Krabbe disease due to saposin A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to melanocortin 4 receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to GLUT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to glucokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle beta-enolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Limb-girdle muscular dystrophy due to POMK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Vasculitis due to ADA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to RTTN deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autism spectrum disorder due to AUTS2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pyogenic bacterial infections due to MyD88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to INSR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to CD25 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to SIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to XIAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to MASP-2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to prohormone convertase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to congenital leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to primary acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF4A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glutathione reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to a late component of complement deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Recurrent Neisseria infections due to factor D deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to CEP19 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary immunodeficiency syndrome due to p14 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurometabolic disorder due to serine deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

liver cancer; liver disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver cancer; liver disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms; lymphatic metastasis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms; lymphatic metastasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; liver diseases; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; liver diseases; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; liver carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; liver carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases, alcoholic; pancreatitis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases, alcoholic; pancreatitis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes complications; fatty liver; fatty liver, alcoholic; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes complications; fatty liver; fatty liver, alcoholic; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

end stage liver disease; liver failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease end stage liver disease; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

drug-induced liver injury; graft vs host disease; inflammation; leukemia; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease drug-induced liver injury; graft vs host disease; inflammation; leukemia; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; hemochromatosis; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; hemochromatosis; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms; precancerous conditions Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b, chronic; lcc - liver cell carcinoma; liver neoplasms; precancerous conditions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma, liver cell; hepatocellular adenoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma, liver cell; hepatocellular adenoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis c, chronic; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; fibrosis; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; fibrosis; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

drug-induced liver injury; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease drug-induced liver injury; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

drug-induced liver injury; liver diseases; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease drug-induced liver injury; liver diseases; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver diseases; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver diseases; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; liver carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; liver carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; carcinoma, squamous cell; cervical neoplasm; hepatitis b; hepatitis c; liver carcinoma; liver neoplasms; squamous cell carcinoma; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; carcinoma, squamous cell; cervical neoplasm; hepatitis b; hepatitis c; liver carcinoma; liver neoplasms; squamous cell carcinoma; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty liver; liver neoplasms; peptic ulcer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatty liver; liver neoplasms; peptic ulcer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases, alcoholic; pancreatitis, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hepatitis b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms; neoplasm recurrence, local Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; lcc - liver cell carcinoma; liver neoplasms; neoplasm recurrence, local in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrosis; hepatitis c, chronic; liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibrosis; hepatitis c, chronic; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; drug-induced liver injury; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; hemochromatosis; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; hemochromatosis; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

drug-induced liver injury; liver failure, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease drug-induced liver injury; liver failure, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Soluble liver antigen/liver pancreas antigen Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Soluble liver antigen/liver pancreas antigen protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Liver-liver dendritic cell Gene Set

From Tabula Sapiens Gene-Cell Associations

genes with high or low expression in Liver-liver dendritic cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.

Liver fibrosis in pediatric non-alcoholic fatty acid liver disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver fibrosis in pediatric non-alcoholic fatty acid liver disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver fibrosis in non-alcoholic fatty liver disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver fibrosis in non-alcoholic fatty liver disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex Gene Set

From CORUM Protein Complexes

proteins in the p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex protein complex from the CORUM Protein Complexes dataset.

cyclin-dependent protein kinase activating kinase holoenzyme complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the cyclin-dependent protein kinase activating kinase holoenzyme complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polo kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polo kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

jun kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the jun kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

map kinase kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the map kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Polo kinase kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polo kinase kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

MAP kinase activated protein kinase, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the MAP kinase activated protein kinase, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylate kinase/UMP-CMP kinase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylate kinase/UMP-CMP kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

map-kinase-kinase-kinases Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term map-kinase-kinase-kinases in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

map-kinase-kinase-4 Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term map-kinase-kinase-4 in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

MAP kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the MAP kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

JUN kinase kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the JUN kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

MAP kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the MAP kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

JUN kinase kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the JUN kinase kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

mitogen-activated protein kinase kinase binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the mitogen-activated protein kinase kinase binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

cyclin-dependent protein kinase activating kinase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the cyclin-dependent protein kinase activating kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

cyclin-dependent protein kinase activating kinase regulator activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the cyclin-dependent protein kinase activating kinase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

MITOGEN-ACTIVATED PROTEIN KINASE KINASE INHIBITOR Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the MITOGEN-ACTIVATED PROTEIN KINASE KINASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

liver glycogenosis caused by phk deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver glycogenosis caused by phk deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; fatty liver Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; fatty liver in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Lchad Deficiency With Maternal Acute Fatty Liver Of Pregnancy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lchad Deficiency With Maternal Acute Fatty Liver Of Pregnancy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Mevalonate Kinase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

phosphoglycerate kinase 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphoglycerate kinase 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glycerol kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the glycerol kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyruvate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyruvate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Deficiency Of Mevalonate Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Mevalonate Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency Of Adenylate Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Adenylate Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Red Cell Adenylate Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Red Cell Adenylate Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cyclin-Dependent Kinase-Like 5 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cyclin-Dependent Kinase-Like 5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency Of Pyruvate Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Pyruvate Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deoxyguanosine Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deoxyguanosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency Of Glycerol Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Glycerol Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complex Glycerol Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complex Glycerol Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tyrosine Kinase 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency Of Phosphoglycerate Kinase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Phosphoglycerate Kinase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Phosphoglycerate Kinase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From Reactome Pathways 2024

proteins participating in the Branched-chain ketoacid dehydrogenase kinase deficiency pathway from the Reactome Pathways 2024 dataset.

Pyruvate kinase deficiency of red cells Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Pyruvate kinase deficiency of red cells from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Phosphoglycerate kinase 1 deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

branched-chain keto acid dehydrogenase kinase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease branched-chain keto acid dehydrogenase kinase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Phosphoglycerate kinase 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Glycerol kinase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Glycerol kinase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pyruvate kinase deficiency of red cells Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pyruvate kinase deficiency of red cells in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Janus kinase-3 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Janus kinase-3 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pyruvate kinase deficiency of red cells Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyruvate kinase deficiency of red cells phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Branched-chain keto acid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Branched-chain keto acid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Inborn glycerol kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Inborn glycerol kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

North american indian childhood cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the North american indian childhood cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biliary Cirrhosis, Primary, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Biliary Cirrhosis, Primary, 2 from the curated CTD Gene-Disease Associations dataset.

North American Indian Childhood Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease North American Indian Childhood Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Cirrhosis, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cirrhosis, Familial from the curated CTD Gene-Disease Associations dataset.

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Biliary Cirrhosis, Primary, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Biliary Cirrhosis, Primary, 3 from the curated CTD Gene-Disease Associations dataset.

primary biliary cirrhosis Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease primary biliary cirrhosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

primary biliary cirrhosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease primary biliary cirrhosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cirrhosis; pancreatitis; esophageal cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; pancreatitis; esophageal cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

primary biliary cirrhosis] Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary biliary cirrhosis] in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, primary biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

primary biliary cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic; hepatitis c Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; hepatitis c in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary; cholangitis, sclerosing Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; cholangitis, sclerosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol; triglycerides; cirrhosis, alcoholic; lipids Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol; triglycerides; cirrhosis, alcoholic; lipids in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cirrhosis; esophageal cancer; pancreatitis, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cirrhosis; esophageal cancer; pancreatitis, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis, coronary; cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis, coronary; cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; hepatitis type 1, autoimmune (aih-1) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis; hepatocellular carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; hepatocellular carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholism; cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholism; cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis; pancreatitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; pancreatitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis; hepatocellular carcinoma; hepatitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis; hepatocellular carcinoma; hepatitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteoporosis; cirrhosis, primary biliary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease osteoporosis; cirrhosis, primary biliary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary; hepatitis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; hepatitis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, alcoholic; alcoholism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, alcoholic; alcoholism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis, biliary primary; diabetes, gestational Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cirrhosis, biliary primary; diabetes, gestational in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cirrhosis Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cirrhosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Primary biliary cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

primary biliary cirrhosis Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease primary biliary cirrhosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

biliary cirrhosis Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the biliary cirrhosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

micronodular cirrhosis Gene Set

From HPO Gene-Disease Associations

genes associated with the micronodular cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

biliary cirrhosis Gene Set

From HPO Gene-Disease Associations

genes associated with the biliary cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cirrhosis Gene Set

From HPO Gene-Disease Associations

genes associated with the cirrhosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

biliary cirrhosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{biliary cirrhosis, primary, 3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {biliary cirrhosis, primary, 3} phenotype from the curated OMIM Gene-Disease Associations dataset.

biliary cirrhosis, primary, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the biliary cirrhosis, primary, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

biliary cirrhosis, primary, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the biliary cirrhosis, primary, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

{cirrhosis, noncryptogenic, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {cirrhosis, noncryptogenic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis, north american indian childhood type Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis, north american indian childhood type phenotype from the curated OMIM Gene-Disease Associations dataset.

{biliary cirrhosis, primary, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {biliary cirrhosis, primary, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermanganesemia with dystonia, polycythemia, and cirrhosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermanganesemia with dystonia, polycythemia, and cirrhosis phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis, cryptogenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis, cryptogenic phenotype from the curated OMIM Gene-Disease Associations dataset.

Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Biliary Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Advanced Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Advanced Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Biliary Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Biliary Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Biliary Cirrhosis, Primary, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Biliary Cirrhosis, Primary, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Micronodular Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Micronodular Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Copper-Overload Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Copper-Overload Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Indian Childhood Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Indian Childhood Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Compensated Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Compensated Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hepatic Fibrosis And Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hepatic Fibrosis And Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Endemic Tyrolean Infantile Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

North American Indian Childhood Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease North American Indian Childhood Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cirrhosis, Noncryptogenic, Susceptibility To (Finding) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cirrhosis, Noncryptogenic, Susceptibility To (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Cirrhosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cardiac Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Portal Cirrhosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Portal Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

biliary cirrhosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the biliary cirrhosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary North American Indian childhood cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary North American Indian childhood cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary biliary cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Primary biliary cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cirrhosis (alcohol related) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cirrhosis (alcohol related) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cirrhosis (multi-trait analysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cirrhosis (multi-trait analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Malignant Hyperpyrexia Due To Anesthesia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Functional Diarrhoea (Due To Spastic Colon) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peripheral Neuropathy Due To And Following Chemotherapy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Viral Gastroenteritis Due To Rotavirus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Alzheimer'S Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Whooping Cough Due To Unspecified Organism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteopenia Due To Disuse Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Parvoviridae Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Addison'S Disease Due To Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eye Disorder Due To Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ketoacidosis Due To Acute Alcohol Intoxication Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

End Stage Renal Disease Due To Hypertension Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydrops Fetalis Due To Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Acanthocephala Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Neisseria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomyelitis Due To Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Hepatitis Due To Cryptosporidium Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Brucella Suis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Infections Due To Aspiration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Mycobacterium Kansasii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydronephrosis Due To Pujo Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disseminated Due To Other Mycobacteria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Autoimmune Process Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Scoliosis Due To Bony Malformation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Renal Failure Due To Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Parkinson'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold And Heat Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Irritant Contact Dermatitis Due To Incontinence Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dermatophilosis Due To Dermatophilus Congolensis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Clostridium Chauvoei Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Rhinitis Due To Narrow Nasal Airway Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Erythropoietin Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Excess Erythopoetin Production Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Fall In Plasma Volume Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To High Altitude Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Stress Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Muscle Atrophy Due To Neurologic Disease Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chromosomal Mosaicism Due To Mitotic Instability Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Weakness Due To Upper Motor Neuron Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cephalhematoma Due To Birth Trauma Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bowing Of Limbs Due To Multiple Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Restricted Neck Movement Due To Contractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Painless Fractures Due To Injury Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Sweating Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Acanthocytosis Due To Band 3 Ht Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set

From WikiPathways Pathways 2024

proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BARD1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to ABCA4 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to LRAT loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1LW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1MW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1SW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH12 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH5 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to STRA6 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set

From Reactome Pathways 2024

proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Male infertility due to acephalic spermatozoa Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Polyneuropathy due to drug Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked thrombophilia due to factor IX defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial hyperthyroidism due to mutations in TSH receptor Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypothyroidism due to TSH receptor mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to TUBA1A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisome biogenesis disorder due to PEX1 defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a JAG1 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to LIS1 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital lipoid adrenal hyperplasia due to STAR deficency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to CREBBP mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hydrocephalus due to aqueductal stenosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to doublecortin gene mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary familial polycythemia due to EPO receptor mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor I resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone qualitative anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to SLC37A4 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metabolic myopathy due to lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a NOTCH2 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

DeSanto-Shinawi syndrome due to WAC point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to defect in CD3-gamma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Myopathy due to calsequestrin and SERCA1 protein overload Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SIN3A-related intellectual disability syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lactic aciduria due to D-lactic acid Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Kleefstra syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pancytopenia due to IKZF1 mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hao-Fountain syndrome due to USP7 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital histidine-rich Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile arthritis due to defect in LA Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked acrogigantism due to Xq26 microduplication Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Male infertility due to gonadal dysgenesis or sperm disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Female infertility due to zona pellucida defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Liver Gene Set

From BioGPS Human Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in Liver relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.

liver Gene Set

From BioGPS Mouse Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in liver relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.

NR1I2-20693526-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the NR1I2-20693526-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

ESR1-17901129-mouse liver-mouse Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the ESR1-17901129-mouse liver-mouse transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXO1-23066095-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXO1-23066095-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

TAL1-20566737-PRIMARY FETAL LIVER ERYTHROID CELLS-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the TAL1-20566737-PRIMARY FETAL LIVER ERYTHROID CELLS-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

KLF1-20508144-FETAL-LIVER-ERYTHROID-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the KLF1-20508144-FETAL-LIVER-ERYTHROID-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

CEBPA-23403033-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CEBPA-23403033-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

SREBP1-19666523-LIVER-FROM-C57BL-MICE-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the SREBP1-19666523-LIVER-FROM-C57BL-MICE-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EGR1-23403033-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EGR1-23403033-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

SREBP2-21459322-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the SREBP2-21459322-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

CEBPB-23403033-LIVER-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CEBPB-23403033-LIVER-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital cystic disease of liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Liver failure acute infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Liver Diseases, Parasitic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Liver Diseases, Parasitic from the curated CTD Gene-Disease Associations dataset.

Adenoma, Liver Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenoma, Liver Cell from the curated CTD Gene-Disease Associations dataset.

Glycogen Storage Disease 0, Liver Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycogen Storage Disease 0, Liver from the curated CTD Gene-Disease Associations dataset.

Drug-Induced Liver Injury, Chronic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Induced Liver Injury, Chronic from the curated CTD Gene-Disease Associations dataset.

Fatty Liver Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fatty Liver from the curated CTD Gene-Disease Associations dataset.

Fatty Liver, Alcoholic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fatty Liver, Alcoholic from the curated CTD Gene-Disease Associations dataset.

Non-alcoholic Fatty Liver Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Non-alcoholic Fatty Liver Disease from the curated CTD Gene-Disease Associations dataset.

LIVER FAILURE, INFANTILE, TRANSIENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset.

Polycystic liver disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic liver disease from the curated CTD Gene-Disease Associations dataset.

Drug-Induced Liver Injury Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug-Induced Liver Injury from the curated CTD Gene-Disease Associations dataset.

End Stage Liver Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease End Stage Liver Disease from the curated CTD Gene-Disease Associations dataset.