Name

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset

SDR42E1 Gene

short chain dehydrogenase/reductase family 42E, member 1

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ACSS3 Gene

acyl-CoA synthetase short-chain family member 3

Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

ACSS2 Gene

acyl-CoA synthetase short-chain family member 2

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

ACSS1 Gene

acyl-CoA synthetase short-chain family member 1

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SDR42E2 Gene

short chain dehydrogenase/reductase family 42E, member 2

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

ACADSB Gene

acyl-CoA dehydrogenase, short/branched chain

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

SHOX2 Gene

short stature homeobox 2

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

SCOCP1 Gene

short coiled-coil protein pseudogene 1

SHOX Gene

short stature homeobox

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

LOC100132571 Gene

short coiled-coil protein pseudogene

KIR2DS4 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

SDR16C6P Gene

short chain dehydrogenase/reductase family 16C, member 6, pseudogene

OPN1SW Gene

opsin 1 (cone pigments), short-wave-sensitive

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

ACADS Gene

acyl-CoA dehydrogenase, C-2 to C-3 short chain

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

ECHS1 Gene

enoyl CoA hydratase, short chain, 1, mitochondrial

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

LOC100422348 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

LOC100422346 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

LOC100422347 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

KIR3DS1 Gene

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SDR42E1P1 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene 1

SEMA5B Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SEMA5A Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

SCOC Gene

short coiled-coil protein

This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

SDR9C7 Gene

short chain dehydrogenase/reductase family 9C, member 7

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

HSCR7 Gene

Hirschsprung disease, short-segment, 3

HSCR6 Gene

Hirschsprung disease, short-segment, 2

MRSS Gene

Mental retardation, X-linked, with short stature

SEMA3A Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

SEMA3C Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

SEMA3B Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SEMA3E Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3D Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

SEMA3G Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]

SEMA3F Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

LOC100422339 Gene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

SDR16C5 Gene

short chain dehydrogenase/reductase family 16C, member 5

This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

LOC100422730 Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A pseudogene

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including ossification involved in bone maturation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of neuron projection development. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

SDR39U1 Gene

short chain dehydrogenase/reductase family 39U, member 1

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

LOC105371187 Gene

putative short-chain dehydrogenase/reductase family 42E member 2

STMP1 Gene

short transmembrane mitochondrial protein 1

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC124901069 Gene

short transmembrane mitochondrial protein 1-like

severe short-limb dwarfism Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe Short-Limb Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Erosive tooth wear (severe vs non-severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

severe short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

childhood-onset short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the childhood-onset short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

disproportionate short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the disproportionate short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lethal short-limbed short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the lethal short-limbed short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Lethal Short-Limbed Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lethal Short-Limbed Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood-Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood-Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disproportionate Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Disproportionate Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neonatal Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neonatal Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infancy Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infancy Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic osteodysplastic primordial dwarfism type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephalic osteodysplastic primordial dwarfism type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ateleiotic dwarfism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ateleiotic dwarfism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary dwarfism 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary dwarfism 1 from the curated CTD Gene-Disease Associations dataset.

Parastremmatic dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parastremmatic dwarfism from the curated CTD Gene-Disease Associations dataset.

Megaepiphyseal dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Megaepiphyseal dwarfism from the curated CTD Gene-Disease Associations dataset.

Dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dwarfism from the curated CTD Gene-Disease Associations dataset.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephalic Osteodysplastic Primordial Dwarfism, Type II from the curated CTD Gene-Disease Associations dataset.

Osteoglophonic dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteoglophonic dwarfism from the curated CTD Gene-Disease Associations dataset.

Dwarfism, Pituitary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dwarfism, Pituitary from the curated CTD Gene-Disease Associations dataset.

Metatropic dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metatropic dwarfism from the curated CTD Gene-Disease Associations dataset.

Lenz Majewski hyperostotic dwarfism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lenz Majewski hyperostotic dwarfism from the curated CTD Gene-Disease Associations dataset.

laron-type dwarfism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease laron-type dwarfism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term dwarfism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

pituitary dwarfism Gene Set

From HPO Gene-Disease Associations

genes associated with the pituitary dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Dwarfism Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Dwarfism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Dwarfism, Pituitary Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Dwarfism, Pituitary phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

parastremmatic dwarfism Gene Set

From OMIM Gene-Disease Associations

genes associated with the parastremmatic dwarfism phenotype from the curated OMIM Gene-Disease Associations dataset.

lenz-majewski hyperostotic dwarfism Gene Set

From OMIM Gene-Disease Associations

genes associated with the lenz-majewski hyperostotic dwarfism phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephalic osteodysplastic primordial dwarfism, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephalic osteodysplastic primordial dwarfism, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephalic osteodysplastic primordial dwarfism, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephalic osteodysplastic primordial dwarfism, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

laron dwarfism Gene Set

From OMIM Gene-Disease Associations

genes associated with the laron dwarfism phenotype from the curated OMIM Gene-Disease Associations dataset.

Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteoglophonic Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteoglophonic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pituitary Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Dwarfism I Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pituitary Dwarfism I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dwarfism Tall Vertebrae Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dwarfism Tall Vertebrae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microcephalic Osteodysplastic Primordial Dwarfism, Type I Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microcephalic Osteodysplastic Primordial Dwarfism, Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Megaepiphyseal Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Megaepiphyseal Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Achondroplastic Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Achondroplastic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microcephalic Primordial Dwarfism Alazami Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microcephalic Primordial Dwarfism Alazami Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteodysplastic Primordial Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteodysplastic Primordial Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Dwarfism Type 3 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pituitary Dwarfism Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lenz Majewski Hyperostotic Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lenz Majewski Hyperostotic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metatropic Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metatropic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Parastremmatic Dwarfism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Parastremmatic Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Microcephalic osteodysplastic primordial dwarfism type II Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Microcephalic osteodysplastic primordial dwarfism type II from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Lenz-Majewski hyperostotic dwarfism Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Lenz-Majewski hyperostotic dwarfism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Parastremmatic dwarfism Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Parastremmatic dwarfism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Microcephalic osteodysplastic primordial dwarfism type II Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Microcephalic osteodysplastic primordial dwarfism type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Microcephalic osteodysplastic primordial dwarfism type I Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Microcephalic osteodysplastic primordial dwarfism type I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Microcephalic osteodysplastic primordial dwarfism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic osteodysplastic primordial dwarfism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Parastremmatic dwarfism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Parastremmatic dwarfism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Trichomegaly-retina pigmentary degeneration-dwarfism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ateleiotic dwarfism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ateleiotic dwarfism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Osteodysplastic primordial dwarfism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Osteodysplastic primordial dwarfism 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.

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.

Microcephalic primordial dwarfism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe 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.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperparathyroidism, neonatal severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, early-onset severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, early-onset severe 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.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Hyperparathyroidism, Neonatal Severe Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Dengue Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset.

Abnormalities, Severe Teratoid Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 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.

Severe Acute Respiratory Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset.

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 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.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe nonproliferative diabetic retinopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe pre-eclampsia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe type iii hyperlipoproteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe trauma. mortality Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe childhood thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sars (severe acute respiratory syndrome) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome. severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe desmoid phenotype Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mild and severe substance abuse Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe malaria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

communicable diseases; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute radiotherapy side effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe hyperkinetic disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe sepsis in blunt trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe ulcerative colitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe chronic neutropenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe rsv bronchiolitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

outcome after severe injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe sepsis after trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe photoaging of facial skin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Asthma (childhood, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

severe osteoporosis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe platyspondyly Gene Set

From HPO Gene-Disease Associations

genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe photosensitivity Gene Set

From HPO Gene-Disease Associations

genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrops fetalis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe carpal ossification delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe lactic acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t-cell immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe recurrent varicella Gene Set

From HPO Gene-Disease Associations

genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe visual impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intellectual disability, severe Gene Set

From HPO Gene-Disease Associations

genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrocephalus Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe failure to thrive Gene Set

From HPO Gene-Disease Associations

genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe b lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe intrauterine growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe demyelination of the white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe myopia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe periodontitis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe postnatal growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe global developmental delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

mental retardation, severe, with spasticity and tapetoretinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration 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.

retinal dystrophy, early-onset severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset.

insulin resistance, severe, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, susceptibility to, bmiq9} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 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.

neutropenia, severe congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopathy, neonatal severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, and type ii diabetes} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

{influenza, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 2, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Visual Impairment Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mental Disorders, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hypoglycaemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Intellectual Disability Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Epstein Barr Virus Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hereditary Factor Viii Deficiency Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Sepsis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Sensorineural Hearing Impairment Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Myopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Severe Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dementia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hypoxic Ischemic Encephalopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dengue Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Depression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Chronic Obstructive Pulmonary Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Periodontitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autism, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Acute Malnutrition Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Aplastic Anemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Intellectual Disability And Progressive Spastic Paraplegia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Congenital Microcephaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Expressive Language Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mucopolysaccharidosis, Type Vi, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Malnutrition Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Nonproliferative Diabetic Retinopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Fever With Thrombocytopenia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Alcohol Dependence Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Persistent Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Acute Respiratory Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Asthma With Fungal Sensitisation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Severe Refractory Exacerbation Of Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Granulocytopenia Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Beta Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Pediatric Obstructive Sleep Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Varicella, Severe Recurrent Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Major Depression With Psychotic Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Athabaskan Severe Combined Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Recurrent Major Depression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Childhood Autosomal Recessive Muscular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe [Duchenne] Muscular Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Hypothyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Receptive Language Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Reaction To Severe Stress, And Adjustment Disorders Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Copd, Severe Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe T-Cell Immunodeficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Galactose Epimerase Deficiency, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Greig Cephalopolysyndactyly Syndrome, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Dehydration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Left Ventricular Systolic Dysfunction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Costello Syndrome, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hunter'S Syndrome, Severe Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth Restriction, Severe, With Distinctive Facies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth Restriction, Severe, With Distinctive Facies 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.

Opioid Use Disorder, Severe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early Childhood Onset Retinal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Laryngospasm, Severe Neonatal Episodic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Global Developmental Delay Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Muscular Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Diarrhea Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe B Lymphocytopenia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Psychomotor Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Dry Skin Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Congenital Neutropenia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Cutaneous Adverse Reactions (Smq) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early Severe Fetal Akinesia Sequence Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Postnatal Growth Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Failure To Thrive Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Photosensitivity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Hearing Loss Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Intrauterine Growth Retardation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Generalized Osteoporosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Platyspondyly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Headache Severe Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Lactic Acidosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Speech Delay Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Back Pain Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Hydrocephalus Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Influenza, Severe, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Demyelination Of The White Matter Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Hydrops Fetalis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Gastroesophageal Reflux Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Feeding Problems Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe Carpal Ossification Delay Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Severe congenital neutropenia type 4 (G6PC3) Gene Set

From Reactome Pathways 2024

proteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 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.

Severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe COVID-19 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe pre-eclampsia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 8 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

non-severe COVID-19 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

adult-onset severe asthma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe nonproliferative diabetic retinopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Persistent severe asthma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 4 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 7 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 7 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.

Severe congenital neutropenia 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital neutropenia 6 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Susceptibility to severe coronavirus disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency disease 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.

Severe hydrocephalus Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early onset and severe retinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe neurodegenerative syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neurodegenerative syndrome 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.

Athabaskan severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-childhood-onset retinal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe global developmental delay Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal severe primary hyperparathyroidism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal severe primary hyperparathyroidism 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 severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe neonatal-onset encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

ZAP70-Related Severe Combined Immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe sensorineural hearing impairment Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome 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.

Severe intellectual disability-progressive spastic diplegia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 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.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe congenital neutropenia 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.

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 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.

Severe X-linked mitochondrial encephalomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 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.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe underweight in infancy childhood and adolescence Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe underweight in infancy childhood and adolescence 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.

Severe neurodevelopmental delay Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 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.

Susceptibility to severe COVID- Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intermediate severe Salla disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intermediate severe Salla disease 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.

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.

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.

Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome 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.

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.

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.

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe muscular hypotonia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe 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.

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.

CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe COVID-19 infection with respiratory failure (analysis I) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe COVID-19 infection with respiratory failure (analysis II) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Statin-induced myopathy (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pelvic organ prolapse (moderate/severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe influenza A (H1N1) infection Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe malaria Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe malaria (adjusted for sickle cell variant rs334) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe aplastic anemia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe aortic features in Marfan syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe skin toxicity response to cetuximab in colorectal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma (moderate or severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Osteoarthritis (hand, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Asthma with severe exacerbations Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe diabetic retinopathy in type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hypospadias (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Glucosuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hematuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Proteinuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Ketonuria (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Childhood asthma with severe exacerbations Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Adolescent idiopathic scoliosis (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to mepolizumab in severe asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thiopurine-induced severe alopecia in inflammatory bowel disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Erosive tooth wear (severe vs none or mild) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe progression in rheumatoid arthritis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe bacterial meningitis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe exacerbations in childhood asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe gingival inflammation Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe gastric atrophy Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe insulin-deficient type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe insulin-resistant type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe autoimmune type 2 diabetes Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe coronary stenosis (young age of onset interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

short insular gyri, right Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in short insular gyri, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

short insular gyri, left Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in short insular gyri, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

Short stature, idiopathic, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, idiopathic, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-sleeper Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-sleeper phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachyrachia (short spine dysplasia) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yakut short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yakut short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the short-chain collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, with Short Stature Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset.

Short QT Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Short QT Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Short QT Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short QT Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Short Stature, Idiopathic, Autosomal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Stature, Idiopathic, Autosomal from the curated CTD Gene-Disease Associations dataset.

Short Stature, Idiopathic, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Stature, Idiopathic, X-Linked from the curated CTD Gene-Disease Associations dataset.

Short Rib-Polydactyly Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short Rib-Polydactyly Syndrome from the curated CTD Gene-Disease Associations dataset.

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset.

Memory, Short-Term Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Memory, Short-Term in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

short bowel syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease short bowel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

memory, short-term Gene Set

From GAD Gene-Disease Associations

genes associated with the disease memory, short-term in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

short stature Gene Set

From GAD Gene-Disease Associations

genes associated with the disease short stature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

idiopathic short stature Gene Set

From GAD Gene-Disease Associations

genes associated with the disease idiopathic short stature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple organ failure; short bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; short bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

short-term response to haloperidol treatment Gene Set

From GAD Gene-Disease Associations

genes associated with the disease short-term response to haloperidol treatment in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

short Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term short in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

16478745-SuppTable1-short Gene Set

From GeneSigDB Published Gene Signatures

genes in signature reported in the publication with PubMedID 16478745-SuppTable1-short from the GeneSigDB Published Gene Signatures dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid import Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

short-chain collagen trimer Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the short-chain collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset.

short-chain fatty acid uptake transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain fatty acid uptake transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

short-chain fatty acid transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the short-chain fatty acid transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Hypertension risk in short sleep duration Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

short attention span Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the short attention span phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

short distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

moderately short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the moderately short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short nasal bridge Gene Set

From HPO Gene-Disease Associations

genes associated with the short nasal bridge phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short chordae tendineae of the tricuspid valve Gene Set

From HPO Gene-Disease Associations

genes associated with the short chordae tendineae of the tricuspid valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short nose Gene Set

From HPO Gene-Disease Associations

genes associated with the short nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 5th toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 4th toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short diaphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the short diaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short metacarpals with rounded proximal ends Gene Set

From HPO Gene-Disease Associations

genes associated with the short metacarpals with rounded proximal ends phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 1st metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short femoral neck Gene Set

From HPO Gene-Disease Associations

genes associated with the short femoral neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short digit Gene Set

From HPO Gene-Disease Associations

genes associated with the short digit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

relatively short spine Gene Set

From HPO Gene-Disease Associations

genes associated with the relatively short spine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short sacroiliac notch Gene Set

From HPO Gene-Disease Associations

genes associated with the short sacroiliac notch phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short chordae tendineae of the mitral valve Gene Set

From HPO Gene-Disease Associations

genes associated with the short chordae tendineae of the mitral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short columella Gene Set

From HPO Gene-Disease Associations

genes associated with the short columella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short nail Gene Set

From HPO Gene-Disease Associations

genes associated with the short nail phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short fourth metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the short fourth metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short humerus Gene Set

From HPO Gene-Disease Associations

genes associated with the short humerus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mesomelic short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the mesomelic short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short middle phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short philtrum Gene Set

From HPO Gene-Disease Associations

genes associated with the short philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the short metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short umbilical cord Gene Set

From HPO Gene-Disease Associations

genes associated with the short umbilical cord phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short upper lip Gene Set

From HPO Gene-Disease Associations

genes associated with the short upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short palpebral fissure Gene Set

From HPO Gene-Disease Associations

genes associated with the short palpebral fissure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short femur Gene Set

From HPO Gene-Disease Associations

genes associated with the short femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short attention span Gene Set

From HPO Gene-Disease Associations

genes associated with the short attention span phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 5th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 5th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short middle phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short chin Gene Set

From HPO Gene-Disease Associations

genes associated with the short chin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short thorax Gene Set

From HPO Gene-Disease Associations

genes associated with the short thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short mandibular rami Gene Set

From HPO Gene-Disease Associations

genes associated with the short mandibular rami phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short lingual frenulum Gene Set

From HPO Gene-Disease Associations

genes associated with the short lingual frenulum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

disproportionate short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the disproportionate short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 3rd metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 3rd metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short palm Gene Set

From HPO Gene-Disease Associations

genes associated with the short palm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short mandibular condyles Gene Set

From HPO Gene-Disease Associations

genes associated with the short mandibular condyles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 2nd toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short 2nd toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mild short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the mild short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short middle phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short neck Gene Set

From HPO Gene-Disease Associations

genes associated with the short neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short foot Gene Set

From HPO Gene-Disease Associations

genes associated with the short foot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short ribs Gene Set

From HPO Gene-Disease Associations

genes associated with the short ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short ear Gene Set

From HPO Gene-Disease Associations

genes associated with the short ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proportionate short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the proportionate short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short iliac bones Gene Set

From HPO Gene-Disease Associations

genes associated with the short iliac bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short lower limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the short lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short phalanx of hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short hard palate Gene Set

From HPO Gene-Disease Associations

genes associated with the short hard palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short nasal septum Gene Set

From HPO Gene-Disease Associations

genes associated with the short nasal septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short long bone Gene Set

From HPO Gene-Disease Associations

genes associated with the short long bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short sternum Gene Set

From HPO Gene-Disease Associations

genes associated with the short sternum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short stepped shuffling gait Gene Set

From HPO Gene-Disease Associations

genes associated with the short stepped shuffling gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short tibia Gene Set

From HPO Gene-Disease Associations

genes associated with the short tibia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short 4th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the short 4th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short tubular bones (hand) Gene Set

From HPO Gene-Disease Associations

genes associated with the short tubular bones (hand) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short clavicles Gene Set

From HPO Gene-Disease Associations

genes associated with the short clavicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short middle phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short middle phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short first metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the short first metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Short Bowel Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Short Bowel Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Memory, Short-Term Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Memory, Short-Term phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Short hematopoietin receptor, family 1, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short hematopoietin receptor, family 1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short hematopoietin receptor, family 2, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short hematopoietin receptor, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short-chain dehydrogenase/reductase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short-chain dehydrogenase/reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Short-chain dehydrogenase/reductase SDR Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Short-chain dehydrogenase/reductase SDR protein domain from the InterPro Predicted Protein Domain Annotations dataset.

short nasal bone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short nasal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short frontal bone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short frontal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short perineum Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short perineum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short tail Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short tail phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short photoreceptor inner segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short squamosal bone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short squamosal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short malleus manubrium Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short malleus manubrium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short metestrus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short metestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short metatarsal bones Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short metatarsal bones phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short diestrus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short diestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short photoreceptor outer segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short vertebral body Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short vertebral body phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short zygomatic bone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short zygomatic bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short fibula Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short fibula phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short palate Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short palate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short premaxilla Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short premaxilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short excitatory postsynaptic current decay time Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short proestrus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short proestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short ureter Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short ureter phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short humerus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short humerus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short uterine horn Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short uterine horn phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal short term object recognition memory Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal short term object recognition memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short tibia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short tibia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short radius Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short radius phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short ulna Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short ulna phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short stride length Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short stride length phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short vibrissae Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short vibrissae phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short umbilical cord Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short umbilical cord phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short malleus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short malleus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short hair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short hair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short lumbar vertebrae Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short lumbar vertebrae phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short estrous cycle Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short estrous cycle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short mandible Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short mandible phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short rostral-caudal axis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short cochlear hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short maxilla Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short maxilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short kidney papilla Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short kidney papilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short outer hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short endolymphatic duct Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short endolymphatic duct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short oviduct Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short oviduct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short presphenoid bone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short presphenoid bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short ribs Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short ribs phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short snout Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short snout phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short vertebral column Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short vertebral column phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short nails Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short nails phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short cochlear outer hair cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short gestation period Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short gestation period phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short sternum Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short sternum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal short term spatial reference memory Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal short term spatial reference memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short neck Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short neck phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short femur Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short femur phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short inner hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short sperm flagellum Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short sperm flagellum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short limbs Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short limbs phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short metacarpal bones Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short metacarpal bones phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short incisors Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short incisors phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short scapula Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short scapula phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short scala media Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short scala media phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short trachea Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short trachea phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short estrus Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short estrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the short syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 4 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

[short sleeper] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [short sleeper] phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital short bowel syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital short bowel syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

short qt syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the short qt syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with short stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acyl-coa dehydrogenase, short-chain, deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the acyl-coa dehydrogenase, short-chain, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, short stature, and impaired glucose metabolism Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, short stature, and impaired glucose metabolism phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

osteochondritis dissecans, short stature, and early-onset osteoarthritis Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteochondritis dissecans, short stature, and early-onset osteoarthritis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature with microcephaly and distinctive facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature with microcephaly and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 2 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, idiopathic familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, idiopathic familial phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 5 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Ear, Patella, Short Stature Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ear, Patella, Short Stature Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Segment Hirschsprung'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Segment Hirschsprung'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Corpus Callosum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Corpus Callosum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short-Term Memory Impairment Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short-Term Memory Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Sleeper Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Sleeper Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Stature Homeobox Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Stature Homeobox Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Distal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Distal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short 2Nd Toe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 2Nd Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Qt Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Qt Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Rib-Polydactyly Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Rib-Polydactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Hard Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Hard Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spondyloperipheral Dysplasia Short Ulna Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spondyloperipheral Dysplasia Short Ulna in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pituitary Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Bowel Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Bowel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short 5Th Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Rib Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Rib Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Middle Phalanx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Middle Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Chordae Tendineae Of The Mitral Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Chordae Tendineae Of The Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Chordae Tendineae Of The Tricuspid Valve Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Chordae Tendineae Of The Tricuspid Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Bowel Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Bowel in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short 3Rd Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 3Rd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Digit Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Digit in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Stature, Idiopathic, Autosomal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Stature, Idiopathic, Autosomal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Fifth Metatarsal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Fifth Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Joint Laxity, Short Stature, And Myopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Joint Laxity, Short Stature, And Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Diaphyses Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short Diaphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Poor Short-Term Memory Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Poor Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Shox-Related Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Shox-Related Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short 5Th Toe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short 5Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Relatively Short Spine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Relatively Short Spine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Stature, Ctcae Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Stature, Ctcae in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Nose Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Distal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Distal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Neck Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Lower Third Of Face Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Lower Third Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Disproportionate Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Disproportionate Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proportionate Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proportionate Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Thorax Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Thorax in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Columella Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Columella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Neck (In Some Patients) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Neck (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Upturned Nose Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Upturned Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 1St Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 1St Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Toe Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Phalanx Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Philtrum Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Philtrum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Foot Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Long Bone Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Long Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Metacarpals With Rounded Proximal Ends Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Metacarpals With Rounded Proximal Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Palm Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Palm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Memory, Short-Term Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Memory, Short-Term in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Stepped Shuffling Gait Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Stepped Shuffling Gait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Humerus Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Humerus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Ribs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Ribs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Tibia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Tibia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mild Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mild Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Leg Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Leg in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Palpebral Fissure Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Palpebral Fissure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Upper Lip Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Upper Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Sternum Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Sternum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Nasal Septum Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Nasal Septum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Telomere Length Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Telomere Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Clavicle Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Clavicle in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Femoral Neck Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Femoral Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Iliac Bones Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Iliac Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Frenulum Of Tongue Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Frenulum Of Tongue in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 2Nd Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 2Nd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 2Nd Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 2Nd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 5Th Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 5Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Middle Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Middle Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Proximal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Proximal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Ear Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Sperm Flagella Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Sperm Flagella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Moderately Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Moderately Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Tubular Bones Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Tubular Bones Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 4Th Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 4Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Fourth Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Fourth Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Sacroiliac Notch Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Sacroiliac Notch in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 3Rd Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 3Rd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Face Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Face in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Deficit In Phonologic Short-Term Memory Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Deficit In Phonologic Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Third Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Third Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short First Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short First Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Stature, Postnatal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Stature, Postnatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Mandibular Rami Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Mandibular Rami in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Cord Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Cord in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Nasal Bridge Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Nasal Bridge in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dorsolateral Bowed, Short Radii Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dorsolateral Bowed, Short Radii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mesomelic Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mesomelic Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Forearm Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Forearm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Uvula Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Uvula in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short 4Th Toe Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short 4Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Dental Roots Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Dental Roots in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Fetal Femur Length Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Fetal Femur Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Bowed Radii Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Bowed Radii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2023 dataset.

short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transmembrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

short-chain fatty acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain fatty acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short-chain-acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain-acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

short tibia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short tibia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short humerus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short humerus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short radius Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short radius phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ulna Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short ulna phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short mandible Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short mandible phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short maxilla Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short maxilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short zygomatic bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short zygomatic bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ribs Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short ribs phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short femur Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short femur phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short rostral-caudal axis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short metacarpal bones Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short metacarpal bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short metatarsal bones Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short metatarsal bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short vertebral body Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short vertebral body phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tail Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short tail phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short premaxilla Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short premaxilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short Meckel's cartilage Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short Meckel's cartilage phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short lower incisors Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short lower incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short upper incisors Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short upper incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short nasal septum Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short nasal septum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short vertebral column Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short vertebral column phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short snout Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short snout phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short limbs Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short limbs phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short fibula Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short fibula phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short oviduct Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short oviduct phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short photoreceptor outer segment Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short vibrissae Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short vibrissae phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short sternum Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short sternum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short photoreceptor inner segment Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short malleus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short malleus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short stride length Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short stride length phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short frontal bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short frontal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short incisors Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short hair Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short hair phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ears Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short ears phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short nasal bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short nasal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short scapula Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short scapula phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short lumbar vertebrae Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short lumbar vertebrae phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short face Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short face phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short basicranium Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short basicranium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short trachea Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short trachea phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short endolymphatic duct Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short endolymphatic duct phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short cochlear outer hair cells Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short estrous cycle Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short estrous cycle phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short diestrus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short diestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short estrus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short estrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal incus short process morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal incus short process morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short inner hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short sperm flagellum Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short sperm flagellum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short nails Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short nails phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short excitatory postsynaptic current decay time Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short outer hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short zygomatic arch Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short zygomatic arch phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short facial bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short facial bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short scala media Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short scala media phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short soft palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ureter Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short ureter phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short proestrus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short proestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short styloid process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short styloid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short cochlear hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tongue Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short tongue phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short neck Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short neck phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short perineum Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short perineum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent incus short process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent incus short process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal short-term spatial reference memory Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal short-term spatial reference memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short philtrum Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short philtrum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short malleus manubrium Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short malleus manubrium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short umbilical cord Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short umbilical cord phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short Tomes' process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short Tomes' process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short gestation period Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short gestation period phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short uterine horn Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short uterine horn phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short femur neck Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short femur neck phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short chin Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short chin phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal short-term object recognition memory Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal short-term object recognition memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short ilium Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short ilium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short temporal bone squamous part Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short temporal bone squamous part phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tooth root Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short tooth root phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short nasal bridge Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short nasal bridge phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short vestibular hair cell stereocilia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short vestibular hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short metestrus Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short metestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short forehead Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short forehead phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short presphenoid bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short presphenoid bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short kidney papilla Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short kidney papilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short mandibular coronoid process Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short mandibular coronoid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short excitatory postsynaptic current rise time Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short excitatory postsynaptic current rise time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short parietal bone Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the short parietal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

short tibia Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the short tibia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Human - Tonsil - L2 - Short lived IgM+ PC Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Tonsil - L2 - Short lived IgM+ PC cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Short-lived effector cell (SLEC)_Undefined_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Short-lived effector cell (SLEC)_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 Gene Set

From Reactome Pathways 2024

proteins participating in the Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 pathway from the Reactome Pathways 2024 dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

short-term memory Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2025 dataset.

short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid catabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid transport biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid transmembrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the short-chain fatty acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of short-term synaptic potentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

short-chain fatty acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain 2-methyl fatty acyl-CoA dehydrogenase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain 2-methyl fatty acyl-CoA dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain carboxylesterase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain carboxylesterase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acyl-CoA hydrolase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acyl-CoA hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-chain fatty acid-CoA ligase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the short-chain fatty acid-CoA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Short QT syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Short QT syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

SHORT syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease SHORT syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Short chain acyl-CoA dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Short chain acyl-CoA dehydrogenase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Short bowel syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Short bowel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short QT syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Short QT syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

SHORT syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease SHORT syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short chain acyl-CoA dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Short chain acyl-CoA dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual developmental disorder with short stature and behavioral abnormalities Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Short stature, hearing loss, retinitis pigmentosa, and distinctive facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 14 with polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 14 with polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked intellectual disability-short stature-overweight syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked intellectual disability-short stature-overweight syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

SHOX-related short stature Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease SHOX-related short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 13 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

short-chain collagen trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the short-chain collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short-rib thoracic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short-rib thoracic dysplasia 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.

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.

SHOX-related short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SHOX-related short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature and advanced bone age Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature and advanced bone age 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.

Short fetal femur length Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short fetal femur length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-optic atrophy-Pelger-Huet anomaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-optic atrophy-Pelger-Huet anomaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Facial dysmorphism-immunodeficiency-livedo-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital short bowel syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital short bowel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short rib-polydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short rib-polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-brachydactyly-obesity-global developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked intellectual disability-short stature-overweight syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked intellectual disability-short stature-overweight syndrome 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.

Proportionate short stature Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proportionate short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short ribs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short ribs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short rib polydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short rib polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short telomere length Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short telomere length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature and microcephaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature and microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short 5th finger Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short 5th finger phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

First year height change in growth hormone-treated short stature Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the First year height change in growth hormone-treated short stature phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

LDL cholesterol levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the LDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HDL cholesterol levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the HDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Triglyceride levels x short total sleep time interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Triglyceride levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Triglyceride levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Triglyceride levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HDL cholesterol levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the HDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

LDL cholesterol levels x short total sleep time interaction (1df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the LDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Short-term memory (visuospatial task) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Short-term memory (visuospatial task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Short-term memory (digit-span task) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Short-term memory (digit-span task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sleep duration (short sleep) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sleep duration (short sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hypertension risk in short sleep duration Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fasting glucose change (short-term) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fasting glucose change (short-term) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.