| Name |
|---|
SLEH1 Genesystemic lupus erythematosus with hemolytic anemia 1 |
GPX1P2 Geneglutathione peroxidase pseudogene 2 |
GPX1P1 Geneglutathione peroxidase pseudogene 1 |
GPX1 Geneglutathione peroxidase 1 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017] |
GPX3 Geneglutathione peroxidase 3 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016] |
GPX2 Geneglutathione peroxidase 2 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016] |
GPX5 Geneglutathione peroxidase 5 This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016] |
GPX4 Geneglutathione peroxidase 4 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018] |
GPX7 Geneglutathione peroxidase 7 Enables catalase activity. Predicted to be involved in cellular response to oxidative stress. Located in endoplasmic reticulum. Implicated in Barrett's adenocarcinoma and Barrett's esophagus. [provided by Alliance of Genome Resources, Mar 2025] |
GPX6 Geneglutathione peroxidase 6 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. Expression of this gene has been observed in embryos and olfactory epithelium; however, the exact function of this gene is not known. This isozyme is a selenoprotein in humans, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The orthologs of this gene in mouse and rat (and some other species) contain a cysteine (Cys) residue in place of the Sec residue, and their corresponding mRNAs lack SECIS element. [provided by RefSeq, Jul 2017] |
GPX8 Geneglutathione peroxidase 8 (putative) Enables peroxidase activity. Predicted to be involved in cellular response to oxidative stress. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025] |
OPHLC GeneOmphalocele due to duplication of 1p31.3 |
PSHK2 GenePseudohyperkalemia, familial, 2, due to red cell leak |
SM2 GeneHepatic fibrosis susceptibility due to Schistosoma mansoni infection |
EPX Geneeosinophil peroxidase This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] |
TPO Genethyroid peroxidase This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] |
FANCG GeneFanconi anemia, complementation group G The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008] |
FANCE GeneFanconi anemia, complementation group E The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008] |
FANCC GeneFanconi anemia, complementation group C The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] |
FANCB GeneFanconi anemia, complementation group B This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016] |
FANCA GeneFanconi anemia, complementation group A The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] |
FANCM GeneFanconi anemia, complementation group M The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
FANCL GeneFanconi anemia, complementation group L This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018] |
FANCI GeneFanconi anemia, complementation group I The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
LOC101929530 GeneFanconi anemia group D2 protein-like |
CDAN3 Genecongenital dyserythropoietic anemia, type III |
FANCD2 GeneFanconi anemia, complementation group D2 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
LOC101060064 GeneFanconi anemia-associated protein of 24 kDa pseudogene |
FANCF GeneFanconi anemia, complementation group F The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] |
LOC100421207 GeneFanconi anemia, complementation group L pseudogene |
FANCD2P1 GeneFanconi anemia, complementation group D2 pseudogene 1 |
DBA2 GeneDiamond-Blackfan anemia 2 |
GSTZ1 Geneglutathione S-transferase zeta 1 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015] |
LOC100652871 Geneglutathione S-transferase theta-4-like |
GSTTP1 Geneglutathione S-transferase theta pseudogene 1 Predicted to enable glutathione transferase activity. Predicted to be involved in glutathione metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GSTTP2 Geneglutathione S-transferase theta pseudogene 2 |
GSTA4 Geneglutathione S-transferase alpha 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] |
GSTA5 Geneglutathione S-transferase alpha 5 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008] |
GSTA1 Geneglutathione S-transferase alpha 1 This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
GSTA2 Geneglutathione S-transferase alpha 2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] |
GSTA3 Geneglutathione S-transferase alpha 3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] |
GSTM2P1 Geneglutathione S-transferase mu 2 (muscle) pseudogene 1 |
GSTA12P Geneglutathione S-transferase alpha 12, pseudogene |
GSTP1P1 Geneglutathione S-transferase pi 1 pseudogene 1 |
GSTA8P Geneglutathione S-transferase alpha 8, pseudogene |
GSTT2B Geneglutathione S-transferase theta 2B (gene/pseudogene) The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015] |
GSTM3P1 Geneglutathione S-transferase mu 3 pseudogene 1 |
LOC100420769 Geneglutathione S-transferase theta 1 pseudogene |
MGST2 Genemicrosomal glutathione S-transferase 2 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011] |
MGST3 Genemicrosomal glutathione S-transferase 3 This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011] |
MGST1 Genemicrosomal glutathione S-transferase 1 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012] |
GSTA7P Geneglutathione S-transferase alpha 7, pseudogene |
GSTP1 Geneglutathione S-transferase pi 1 Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008] |
GSTO2 Geneglutathione S-transferase omega 2 The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] |
GSTO1 Geneglutathione S-transferase omega 1 The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] |
GSTM3P2 Geneglutathione S-transferase mu 3 pseudogene 2 |
GSTT2 Geneglutathione S-transferase theta 2 (gene/pseudogene) The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015] |
LOC102725204 Geneglutathione S-transferase theta-1-like |
GSTA11P Geneglutathione S-transferase alpha 11, pseudogene |
GSTA9P Geneglutathione S-transferase alpha 9, pseudogene |
CHAC1 GeneChaC glutathione-specific gamma-glutamylcyclotransferase 1 This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016] |
GSTM1 Geneglutathione S-transferase mu 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] |
GSTM2 Geneglutathione S-transferase mu 2 (muscle) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] |
GSTM3 Geneglutathione S-transferase mu 3 (brain) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] |
GSTM4 Geneglutathione S-transferase mu 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008] |
GSTM5 Geneglutathione S-transferase mu 5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008] |
GSTO3P Geneglutathione S-transferase omega 3, pseudogene |
LOC105372958 Geneglutathione S-transferase theta-1-like |
GSTM5P1 Geneglutathione S-transferase mu 5 pseudogene 1 |
GSTCD Geneglutathione S-transferase, C-terminal domain containing Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GSS Geneglutathione synthetase Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008] |
GSR Geneglutathione reductase This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010] |
GSTK1 Geneglutathione S-transferase kappa 1 This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] |
LOC100420572 Geneglutathione S-transferase alpha 5 pseudogene |
GSTA10P Geneglutathione S-transferase alpha 10, pseudogene |
GSTT1 Geneglutathione S-transferase theta 1 The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2015] |
GSTA6P Geneglutathione S-transferase alpha 6, pseudogene |
GSTT4 Geneglutathione S-transferase theta 4 Predicted to enable glutathione transferase activity. Predicted to be involved in glutathione metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
hemolytic anemia due to glutathione peroxidase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic anemia due to glutathione reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
hemolytic anemia due to phosphofructokinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, hemolytic, due to umph1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to g6pd deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to adenylate kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to triosephosphate isomerase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to hexokinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Setproteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Anemia Due To Hexokinase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to glucophosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to adenylate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
positive regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
phospholipid-hydroperoxide glutathione peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the phospholipid-hydroperoxide glutathione peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Glutathione peroxidase Gpx7, putative Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione peroxidase Gpx7, putative protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione peroxidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione peroxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione peroxidase active site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione peroxidase active site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione peroxidase conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione peroxidase conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
abnormal glutathione peroxidase activity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal glutathione peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased glutathione peroxidase activity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased glutathione peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
positive regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
decreased glutathione peroxidase activity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased glutathione peroxidase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
positive regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutathione peroxidase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
Glutathione peroxidase in non-alcoholic fatty liver disease x mastiha supplementation interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glutathione peroxidase in non-alcoholic fatty liver disease x mastiha supplementation interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, iron deficiency; anemia of chronic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron deficiency; anemia of chronic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; glucosephosphate dehydrogenase deficiency; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; glucosephosphate dehydrogenase deficiency; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
eosinophil peroxidase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the eosinophil peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Gluthathione Peroxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gluthathione Peroxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Iodide Peroxidase (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Iodide Peroxidase (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gluthathione peroxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gluthathione peroxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Eosinophil peroxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Eosinophil peroxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, distal, with hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, with hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset. |
SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Autoimmune Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Autoimmune from the curated CTD Gene-Disease Associations dataset. |
hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hemolytic anemia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease hemolytic anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
autoimmune hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autoimmune hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hereditary nonspherocytic hemolytic anemia (hnsha). Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary nonspherocytic hemolytic anemia (hnsha). in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hereditary hemolytic anemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary hemolytic anemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, hemolytic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, hemolytic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, hemolytic; hepatitis c, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, hemolytic; hepatitis c, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hereditary hemolytic anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary hemolytic anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic hemolytic anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic hemolytic anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic anemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease hemolytic anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease congenital hemolytic anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
hemolytic anemia Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the hemolytic anemia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
nonspherocytic hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the nonspherocytic hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fava bean-induced hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the fava bean-induced hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
compensated hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the compensated hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
coombs-positive hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the coombs-positive hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
autoimmune hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the autoimmune hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
microangiopathic hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the microangiopathic hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital Nonspherocytic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Autoimmune Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Autoimmune phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
decreased susceptibility to autoimmune hemolytic anemia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
hemolytic anemia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased susceptibility to autoimmune hemolytic anemia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, neonatal hemolytic, fatal and near-fatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, neonatal hemolytic, fatal and near-fatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
{systemic lupus erythematosus with hemolytic anemia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {systemic lupus erythematosus with hemolytic anemia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, hemolytic, rh-null, regulator type Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, rh-null, regulator type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Chronic Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonspherocytic Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonspherocytic Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microangiopathic Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microangiopathic Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fava Bean-Induced Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fava Bean-Induced Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coombs Positive Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coombs Positive Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Compensated Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Compensated Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Drug-Induced Immune Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Drug-Induced Immune Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Immune Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Immune Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Non-Spherocytic Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Non-Spherocytic Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Drug-Induced Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Drug-Induced Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Warm Autoimmune Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Warm Autoimmune Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Autoimmune Hemolytic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Autoimmune Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Episodic Hemolytic Anemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Hemolytic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
hemolytic anemia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the hemolytic anemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased susceptibility to autoimmune hemolytic anemia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased susceptibility to autoimmune hemolytic anemia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased susceptibility to autoimmune hemolytic anemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) Gene Setproteins participating in the Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Gene Setproteins participating in the Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) pathway from the Reactome Pathways 2024 dataset. |
Congenital hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital hemolytic anemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hemolytic anemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital nonspherocytic hemolytic anemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
G6PD deficient hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the G6PD deficient hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital nonspherocytic hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonspherocytic hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic congenital hemolytic and dyserythropoietic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic congenital hemolytic and dyserythropoietic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked congenital hemolytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked congenital hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
glutathione synthetase deficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the glutathione synthetase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
glutathione synthetase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Glutathione synthetase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Glutathione synthetase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glutathione synthetase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inherited glutathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inherited glutathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glutathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megaloblastic anemia due to inborn errors of metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset. |
anemia due to reduced life span of red cells Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
anemia due to reduced life span of red cells Gene SetFrom HPO Gene-Disease Associations genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macrocytic anemia, refractory, due to 5q deletion, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, sickle cell; bacterial infections; enterobacteriaceae infections; osteomyelitis; sepsis; sickle cell anemia; staphylococcal infections; systemic infection; unspecified osteomyelitis nos Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; bacterial infections; enterobacteriaceae infections; osteomyelitis; sepsis; sickle cell anemia; staphylococcal infections; systemic infection; unspecified osteomyelitis nos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; infarction; ischemia; sickle cell anemia; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; infarction; ischemia; sickle cell anemia; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; apoplexy; sickle cell anemia; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; apoplexy; sickle cell anemia; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; pain; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; pain; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; sickle cell anemia; thalassemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; sickle cell anemia; thalassemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; sickle cell anemia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia; leukemia, myeloid; myelodysplastic syndromes; myeloid leukemia; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; bone diseases; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; bone diseases; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; inflammation; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; inflammation; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; glycogen storage disease type i; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; glycogen storage disease type i; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fanconi anemia; fanconi's anemia; kidney neoplasms; nephroblastoma; wilms tumor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fanconi anemia; fanconi's anemia; kidney neoplasms; nephroblastoma; wilms tumor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; bacterial infections; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; bacterial infections; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fanconi anemia; fanconi's anemia; hematologic diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fanconi anemia; fanconi's anemia; hematologic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; sickle cell anemia; trachoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; sickle cell anemia; trachoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, refractory; anemia, sideroblastic; myelodysplastic syndromes; thrombocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; heterozygous haemoglobin s; malaria; sickle cell anemia; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; hemochromatosis; iron overload; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; hemochromatosis; iron overload; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, diamond-blackfan; diamond-blackfan anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, diamond-blackfan; diamond-blackfan anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia; disease susceptibility Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sideroblastic; hemochromatosis; myelodysplastic syndromes; preleukemia; sideroblastic anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sideroblastic; hemochromatosis; myelodysplastic syndromes; preleukemia; sideroblastic anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; beta thalassemia; beta-thalassemia; blood coagulation disorders, inherited; sickle cell anemia; vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; beta thalassemia; beta-thalassemia; blood coagulation disorders, inherited; sickle cell anemia; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia; hemoglobinuria, paroxysmal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia; hemoglobinuria, paroxysmal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, aplastic; aplastic anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, aplastic; aplastic anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; bone necrosis; osteonecrosis; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha thalassemia; alpha-thalassemia; anemia, sickle cell; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, sickle cell; peripheral vascular diseases; sickle cell anemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, sickle cell; peripheral vascular diseases; sickle cell anemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Peroxidase Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Peroxidase in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
peroxidase Gene SetFrom GAD Gene-Disease Associations genes associated with the disease peroxidase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
peroxidase Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term peroxidase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
positive regulation of peroxidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of peroxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of peroxidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of peroxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of peroxidase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of peroxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peroxidase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peroxidase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
iodide peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the iodide peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
thioredoxin peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the thioredoxin peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
thiocyanate peroxidase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the thiocyanate peroxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Thyroid peroxidase antibody positivity Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Thyroid peroxidase antibody positivity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Thyroid peroxidase antibody levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Thyroid peroxidase antibody levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Eosinophil peroxidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Eosinophil peroxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Haem peroxidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Haem peroxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Haem peroxidase, animal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Haem peroxidase, animal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Thyroid peroxidase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Thyroid peroxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
increased peroxidase activity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal peroxidase activity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased peroxidase activity Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Anti-Thyroid Peroxidase Antibody Positivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Anti-Thyroid Peroxidase Antibody Positivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of peroxidase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of peroxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
thioredoxin peroxidase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the thioredoxin peroxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peroxidase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peroxidase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of peroxidase activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of peroxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
thioredoxin peroxidase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the thioredoxin peroxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
peroxidase inhibitor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the peroxidase inhibitor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Thyroid autoantibody positivity (anti-thyroglobulin (TgAb) and/or anti-thyroid peroxidase (TPOAb) levels) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thyroid autoantibody positivity (anti-thyroglobulin (TgAb) and/or anti-thyroid peroxidase (TPOAb) levels) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thyroid peroxidase antibody positivity Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thyroid peroxidase antibody positivity phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thyroid peroxidase antibody levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thyroid peroxidase antibody levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thyroid peroxidase autoantibody levels in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thyroid peroxidase autoantibody levels in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Anti-thyroid peroxidase (TPOAb) levels in Hashimoto's thyroiditis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Anti-thyroid peroxidase (TPOAb) levels in Hashimoto's thyroiditis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto's thyroiditis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto's thyroiditis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Plasma anti-thyroid peroxidase levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Plasma anti-thyroid peroxidase levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset. |
{chronic infections, due to mbl deficiency} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to hrg deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephropathy due to cfhr5 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein s deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset. |
?isolated growth hormone deficiency due to defect in ghrf Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to heparin cofactor ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
glucocorticoid deficiency, due to acth unresponsiveness Gene SetFrom OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to partial lama2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
lacticacidemia due to pdx1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to itga7 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
homocystinuria due to mthfr deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
cirrhosis due to liver phosphorylase kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
metachromatic leukodystrophy due to sap-b deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, morbid, due to leptin deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome, due to cox deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation with deafness and mental retardation due to igf1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperammonemia due to carbonic anhydrase va deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema due to aat deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to antithrombin iii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocytosis due to bisphosphoglycerate mutase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
aica-ribosiduria due to atic deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoaldosteronism, congenital, due to cmo i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial cox4 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
chronic granulomatous disease due to deficiency of ncf-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypermethioninemia due to adenosine kinase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to cytochrome c oxidase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neurodegeneration due to cerebral folate transport deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to ficolin 3 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex 1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
{resistance to malaria due to g6pd deficiency} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
emphysema-cirrhosis, due to aat deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoaldosteronism, congenital, due to cmo ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?male infertility due to acrosin deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Scid Due To Ada Deficiency, Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Antibody Deficiency Due To Defect In Cd19 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom 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 SetFrom 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. |
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental And Speech Delay Due To Sox5 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteomalacia Due To Vitamin D Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to HRG deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive thrombophilia due to protein C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to protein C deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant thrombophilia due to protein S deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to protein C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital protein C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCID due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glycogen branching enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Predisposition to invasive fungal disease due to CARD9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive ataxia due to ubiquinone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to acid maltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to ficolin3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal intrahepatic cholestasis due to citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone secretagogue receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Interstitial lung disease due to ABCA3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to leptin receptor gene deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to partial GHR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom 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. |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to CD3gamma deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leigh syndrome due to mitochondrial complex IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to partial RAG1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to ZAP70 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to pro-opiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gaucher disease due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Krabbe disease due to saposin A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to melanocortin 4 receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to HNF1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to GLUT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to glucokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle beta-enolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to LRBA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to STK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to STIM1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa simplex due to plakophilin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to DOCK8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vasculitis due to ADA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephalic primordial dwarfism due to RTTN deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autism spectrum disorder due to AUTS2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pyogenic bacterial infections due to MyD88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to ORAI1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to INSR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to CD25 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to SIM1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked lymphoproliferative disease due to XIAP deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to MASP-2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to prohormone convertase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to congenital leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to primary acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to moesin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to OX40 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperinsulinism due to HNF4A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to MALT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to a late component of complement deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recurrent Neisseria infections due to factor D deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyperphenylalaninemia due to DNAJC12 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Obesity due to CEP19 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary immunodeficiency syndrome due to p14 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Combined immunodeficiency due to GINS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurometabolic disorder due to serine deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Iron-Refractory Iron Deficiency Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset. |
iron deficiency anemia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease iron deficiency anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
folic acid deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
iron deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pyridoxine deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pyridoxine deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
protein-deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sickle cell anemia; g6pd deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sickle cell anemia; g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; polycythemia vera Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; avitaminosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; avitaminosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
iron deficiency anemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease iron deficiency anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
iron deficiency anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the iron deficiency anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Iron-Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
iron-refractory iron deficiency anemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the iron-refractory iron deficiency anemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Iron-Refractory Iron Deficiency Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Iron-Refractory Iron Deficiency Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Iron deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Folic acid deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pyridoxine deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pyridoxine deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
protein-deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease protein-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Iron-refractory iron deficiency anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Iron-refractory iron deficiency anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Iron deficiency anemia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Iron deficiency anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
atypical hemolytic-uremic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical Hemolytic Uremic Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atypical Hemolytic Uremic Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hemolytic-Uremic Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemolytic-Uremic Syndrome from the curated CTD Gene-Disease Associations dataset. |
hemolytic-uremic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hemolytic-uremic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hemolytic-uremic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hemolytic-uremic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hemolytic disease of the newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic disease of the newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic-uremic syndrome; kidney failure, acute Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic-uremic syndrome; kidney failure, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic-uremic syndrome; purpura, thrombotic thrombocytopenic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemolytic-uremic syndrome; purpura, thrombotic thrombocytopenic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atypical hemolytic uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atypical hemolytic uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemolytic Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term hemolytic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
hemolytic-uremic syndrome Gene SetFrom HPO Gene-Disease Associations genes associated with the hemolytic-uremic syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
macrocytic hemolytic disease Gene SetFrom HPO Gene-Disease Associations genes associated with the macrocytic hemolytic disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spontaneous hemolytic crises Gene SetFrom HPO Gene-Disease Associations genes associated with the spontaneous hemolytic crises phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hemolytic-Uremic Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hemolytic-Uremic Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hemolytic uremic syndrome, atypical, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hemolytic-Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic-Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atypical Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atypical Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spontaneous Hemolytic Crises Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spontaneous Hemolytic Crises in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Hemolytic Transfusion Reaction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Hemolytic Transfusion Reaction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Atypical Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Atypical Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Invasive Group A Beta-Hemolytic Streptococcal Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Invasive Group A Beta-Hemolytic Streptococcal Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemolytic Reaction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemolytic Reaction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
hemolytic-uremic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease hemolytic-uremic syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Atypical hemolytic-uremic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Atypical hemolytic-uremic syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Atypical hemolytic-uremic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Atypical hemolytic-uremic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
hemolytic-uremic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hemolytic-uremic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hemolytic disease of the fetus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hemolytic disease of the fetus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Atypical hemolytic-uremic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic uremic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial Atypical Hemolytic-Uremic Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial Atypical Hemolytic-Uremic Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Glutathione from the curated CTD Gene-Chemical Interactions dataset. |
N-ethylmaleimide-S-glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical N-ethylmaleimide-S-glutathione from the curated CTD Gene-Chemical Interactions dataset. |
S-ethyl glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical S-ethyl glutathione from the curated CTD Gene-Chemical Interactions dataset. |
glutathione-BPDE conjugate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical glutathione-BPDE conjugate from the curated CTD Gene-Chemical Interactions dataset. |
S-(2,4-dinitrophenyl)glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical S-(2,4-dinitrophenyl)glutathione from the curated CTD Gene-Chemical Interactions dataset. |
glutathione glycylethyl ester Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical glutathione glycylethyl ester from the curated CTD Gene-Chemical Interactions dataset. |
gamma-glutamyl-glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical gamma-glutamyl-glutathione from the curated CTD Gene-Chemical Interactions dataset. |
glutathione sulfinamide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical glutathione sulfinamide from the curated CTD Gene-Chemical Interactions dataset. |
1-chloro-2,4-dinitrobenzene-glutathione conjugate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical 1-chloro-2,4-dinitrobenzene-glutathione conjugate from the curated CTD Gene-Chemical Interactions dataset. |
S-methyl glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical S-methyl glutathione from the curated CTD Gene-Chemical Interactions dataset. |
S-(4-nitrophenacyl)glutathione Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical S-(4-nitrophenacyl)glutathione from the curated CTD Gene-Chemical Interactions dataset. |
Glutathione Disulfide Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Glutathione Disulfide from the curated CTD Gene-Chemical Interactions dataset. |
glutathione-C4 Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical glutathione-C4 from the curated CTD Gene-Chemical Interactions dataset. |
Glutathione Gene Setinteracting proteins for the Glutathione drug from the curated DrugBank Drug Targets dataset. |
Glutathione S-(2,4 Dinitrobenzene) Gene Setinteracting proteins for the Glutathione S-(2,4 Dinitrobenzene) drug from the curated DrugBank Drug Targets dataset. |
S-(N-Hydroxy-N-Iodophenylcarbamoyl)Glutathione Gene Setinteracting proteins for the S-(N-Hydroxy-N-Iodophenylcarbamoyl)Glutathione drug from the curated DrugBank Drug Targets dataset. |
Oxidized Glutathione Disulfide Gene Setinteracting proteins for the Oxidized Glutathione Disulfide drug from the curated DrugBank Drug Targets dataset. |
S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione Gene Setinteracting proteins for the S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione drug from the curated DrugBank Drug Targets dataset. |
S-METHYL-GLUTATHIONE Gene Setinteracting proteins for the S-METHYL-GLUTATHIONE drug from the curated DrugBank Drug Targets dataset. |
S-Hydroxymethyl Glutathione Gene Setinteracting proteins for the S-Hydroxymethyl Glutathione drug from the curated DrugBank Drug Targets dataset. |
Glutathione Sulfonic Acid Gene Setinteracting proteins for the Glutathione Sulfonic Acid drug from the curated DrugBank Drug Targets dataset. |
GLUTATHIONE SULFINATE Gene Setinteracting proteins for the GLUTATHIONE SULFINATE drug from the curated DrugBank Drug Targets dataset. |
S-(P-Nitrobenzyl)Glutathione Gene Setinteracting proteins for the S-(P-Nitrobenzyl)Glutathione drug from the curated DrugBank Drug Targets dataset. |
S-Benzyl-Glutathione Gene Setinteracting proteins for the S-Benzyl-Glutathione drug from the curated DrugBank Drug Targets dataset. |
decreased glutathione production. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease decreased glutathione production. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glutathione Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term glutathione in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
glutathione derivative biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione derivative biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione derivative metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione derivative metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutathione biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutathione dehydrogenase (ascorbate) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione dehydrogenase (ascorbate) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione disulfide oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione disulfide oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
s-(hydroxymethyl)glutathione dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the s-(hydroxymethyl)glutathione dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione synthase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione synthase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione transferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione transferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione hydrolase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
S-(2-Chloroacetyl)glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(2-Chloroacetyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Oxidized glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Oxidized glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
S-(Hydroxymethyl)glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(Hydroxymethyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
S-(1,2-Dichlorovinyl)glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(1,2-Dichlorovinyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
2-Hydroxyestrone-4-S-glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 2-Hydroxyestrone-4-S-glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
S-(Formylmethyl)glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(Formylmethyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
S-(2,2-Dichloro-1-hydroxy)ethyl glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(2,2-Dichloro-1-hydroxy)ethyl glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
4-Hydroxyestrone-2-S-glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 4-Hydroxyestrone-2-S-glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
2-Hydroxyestrone-1-S-glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 2-Hydroxyestrone-1-S-glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
S-(PGJ2)-glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the S-(PGJ2)-glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Glutathione episulfonium ion Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Glutathione episulfonium ion metabolite from the curated HMDB Metabolites of Enzymes dataset. |
2-(S-Glutathionyl)acetyl glutathione Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 2-(S-Glutathionyl)acetyl glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset. |
glutathione-mediated detoxification Gene SetFrom HumanCyc Pathways proteins participating in the glutathione-mediated detoxification pathway from the HumanCyc Pathways dataset. |
glutathione biosynthesis Gene SetFrom HumanCyc Pathways proteins participating in the glutathione biosynthesis pathway from the HumanCyc Pathways dataset. |
glutathione redox reactions I Gene SetFrom HumanCyc Pathways proteins participating in the glutathione redox reactions I pathway from the HumanCyc Pathways dataset. |
Glutathione degradosome, DUG1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione degradosome, DUG1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Thioredoxin/glutathione reductase selenoprotein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Thioredoxin/glutathione reductase selenoprotein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alcohol dehydrogenase class III/S-(hydroxymethyl)glutathione dehydrogenase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alcohol dehydrogenase class III/S-(hydroxymethyl)glutathione dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Membrane associated eicosanoid/glutathione metabolism-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Membrane associated eicosanoid/glutathione metabolism-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, Mu class Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, Mu class protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione synthase domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione synthase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
HCCA isomerase/glutathione S-transferase kappa Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the HCCA isomerase/glutathione S-transferase kappa protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione synthase, N-terminal, eukaryotic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione synthase, N-terminal, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, alpha class Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, alpha class protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione synthase, substrate-binding, eukaryotic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione synthase, substrate-binding, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione synthase, alpha-helical, eukaryotic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione synthase, alpha-helical, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione synthase, eukaryotic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione synthase, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, C-terminal-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, C-terminal-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione reductase, eukaryote/bacterial Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione reductase, eukaryote/bacterial protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, Pi class Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, Pi class protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Membrane-associated, eicosanoid/glutathione metabolism (MAPEG) protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Membrane-associated, eicosanoid/glutathione metabolism (MAPEG) protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione-dependent formaldehyde-activating enzyme/centromere protein V Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione-dependent formaldehyde-activating enzyme/centromere protein V protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione S-transferase, omega-class Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione S-transferase, omega-class protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
glutathione metabolism Gene SetFrom KEGG Pathways proteins participating in the glutathione metabolism pathway from the KEGG Pathways dataset. |
decreased glutathione level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased glutathione level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal glutathione level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal glutathione level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
glutathione-transferase Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term glutathione-transferase in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Glutathione conjugation Gene Setproteins participating in the Glutathione conjugation pathway from the Reactome Pathways dataset. |
Glutathione synthesis and recycling Gene Setproteins participating in the Glutathione synthesis and recycling pathway from the Reactome Pathways dataset. |
Glutathione and one carbon metabolism(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Glutathione and one carbon metabolism(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
Glutathione metabolism(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Glutathione metabolism(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Glutathione metabolism(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Glutathione metabolism(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
glutathione transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione derivative biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione derivative biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione deglycation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione deglycation biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione import into mitochondrion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione import into mitochondrion biological process from the curated GO Biological Process Annotations 2023 dataset. |
methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione Gene SetFrom GO Biological Process Annotations 2023 genes participating in the methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione derivative metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutathione derivative metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutathione transferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione transferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutathione binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ABC-type glutathione S-conjugate transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ABC-type glutathione S-conjugate transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutathione transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
S-(hydroxymethyl)glutathione dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the S-(hydroxymethyl)glutathione dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutathione hydrolase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutathione disulfide oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione disulfide oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
deaminated glutathione amidase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the deaminated glutathione amidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutathione-dependent sulfide quinone oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutathione-dependent sulfide quinone oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased glutathione level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased glutathione level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased circulating glutathione level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating glutathione level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Glutathione Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Glutathione metabolite from the MW Gene Metabolite Associations dataset. |
Oxidized glutathione Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for Oxidized glutathione metabolite from the MW Gene Metabolite Associations dataset. |
S-(Formylmethyl)glutathione Gene SetFrom MW Enzyme Metabolite Associations interacting proteins for S-(Formylmethyl)glutathione metabolite from the MW Gene Metabolite Associations dataset. |
Glutathione metabolism Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Glutathione metabolism pathway from the WikiPathways Pathways 2024 dataset. |
Gamma glutamyl cycle for the biosynthesis and degradation of glutathione including diseases Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Gamma glutamyl cycle for the biosynthesis and degradation of glutathione including diseases pathway from the WikiPathways Pathways 2024 dataset. |
Glutathione conjugation Gene Setproteins participating in the Glutathione conjugation pathway from the Reactome Pathways 2024 dataset. |
Glutathione synthesis and recycling Gene Setproteins participating in the Glutathione synthesis and recycling pathway from the Reactome Pathways 2024 dataset. |
glutathione transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione derivative biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione derivative biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione import into mitochondrion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione import into mitochondrion biological process from the curated GO Biological Process Annotations 2025 dataset. |
cellular response to glutathione Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to glutathione biological process from the curated GO Biological Process Annotations 2025 dataset. |
methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione Gene SetFrom GO Biological Process Annotations 2025 genes participating in the methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione derivative metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutathione derivative metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
response to glutathione Gene SetFrom GO Biological Process Annotations 2025 genes participating in the response to glutathione biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutathione transferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione transferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ABC-type glutathione S-conjugate transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ABC-type glutathione S-conjugate transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutathione transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutathione hydrolase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutathione disulfide oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione disulfide oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
deaminated glutathione amidase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the deaminated glutathione amidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutathione specific gamma-glutamylcyclotransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione specific gamma-glutamylcyclotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutathione-dependent sulfide quinone oxidoreductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutathione-dependent sulfide quinone oxidoreductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Glutathione hydrolase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutathione hydrolase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutathione synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutathione synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutathione metabolism Gene SetFrom KEGG Pathways 2026 proteins participating in the Glutathione metabolism pathway from the KEGG Pathways 2026 dataset. |
GLUTATHIONE DISULFIDE Gene Setinteracting proteins for the GLUTATHIONE DISULFIDE drug from theDGIdb Drug Targets 2026 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to defect in cd3-zeta Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset. |
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset. |
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset. |
Thrombophilia due to Activated Protein C Resistance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in CD3-Zeta Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset. |
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset. |
thrombocytopenia due to platelet alloimmunization Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pneumoconiosis due to talc Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hereditary spastic paraparesis due to a frame shift mutat Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
depressed suicide; suicide due to depression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
due Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
decreased cervical spine flexion due to contractures of posterior cervical muscles Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
restricted neck movement due to contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic rhinitis due to narrow nasal airway Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bowing of limbs due to multiple fractures Gene SetFrom HPO Gene-Disease Associations genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
respiratory insufficiency due to muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis leading to amputation due to slow healing fractures Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
weakness due to upper motor neuron dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
self-mutilation of tongue and lips due to involuntary movements Gene SetFrom HPO Gene-Disease Associations genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
respiratory insufficiency due to defective ciliary clearance Gene SetFrom HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
recurrent infections due to aspiration Gene SetFrom HPO Gene-Disease Associations genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized hypotonia due to defect at the neuromuscular junction Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic hepatitis due to cryptospridium infection Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
subperiosteal erosions due to secondary hyperparathyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
painless fractures due to injury Gene SetFrom HPO Gene-Disease Associations genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic abscesses due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cellulitis due to immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
decreased sweating due to autonomic dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intermittent episodes of respiratory insufficiency due to muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
orthostatic hypotension due to autonomic dysfunction Gene SetFrom HPO Gene-Disease Associations genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombomodulin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
bleeding disorder due to p2rx1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, due to ligand-defective apo b Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset. |
disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene SetFrom OMIM Gene-Disease Associations genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
omphalocele due to duplication of 1p31.3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
gigantism due to ghrf hypersecretion Gene SetFrom OMIM Gene-Disease Associations genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset. |
pseudohyperkalemia, familial, 2, due to red cell leak Gene SetFrom OMIM Gene-Disease Associations genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, familial, due to decreased release of plat Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{drug-induced liver injury due to flucloxacillin} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to activated protein c resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
?male pseudohermaphroditism due to defective lh Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset. |
hydrocephalus due to aqueductal stenosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to elevated hrg Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset. |
thalassemia due to hb lepore Gene SetFrom OMIM Gene-Disease Associations genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset. |
rickets due to defect in vitamin d 25-hydroxylation Gene SetFrom OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, x-linked, due to factor ix defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
{thrombophilia, susceptibility to, due to factor v leiden} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency due to defect in mapbp-interacting protein Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, familial, due to ttf-1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to thrombin defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperfibrinolysis, familial, due to increased release of plat Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemosiderosis, systemic, due to aceruloplasminemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene SetFrom OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Malignant Hyperpyrexia Due To Anesthesia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Functional Diarrhoea (Due To Spastic Colon) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Neuropathy Due To And Following Chemotherapy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Viral Gastroenteritis Due To Rotavirus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dementia Due To Alzheimer'S Disease (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Whooping Cough Due To Unspecified Organism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteopenia Due To Disuse Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Parvoviridae Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Addison'S Disease Due To Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Eye Disorder Due To Diabetes Mellitus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ketoacidosis Due To Acute Alcohol Intoxication Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
End Stage Renal Disease Due To Hypertension Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydrops Fetalis Due To Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Acanthocephala Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disease Due To Neisseria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteomyelitis Due To Staphylococcus Aureus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Hepatitis Due To Cryptosporidium Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Brucella Suis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Infections Due To Aspiration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Mycobacterium Kansasii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis Due To Pujo Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disseminated Due To Other Mycobacteria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diabetes (Mellitus) Due To Autoimmune Process Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Scoliosis Due To Bony Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Renal Failure Due To Ischemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dementia Due To Parkinson'S Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urticaria Due To Cold And Heat Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Urticaria Due To Cold Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Bronchitis Due To Respiratory Syncytial Virus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Irritant Contact Dermatitis Due To Incontinence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dermatophilosis Due To Dermatophilus Congolensis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infection Due To Clostridium Chauvoei Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Rhinitis Due To Narrow Nasal Airway Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Erythropoietin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Excess Erythopoetin Production Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Fall In Plasma Volume Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To High Altitude Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycythemia Due To Stress Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Muscle Atrophy Due To Neurologic Disease Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Insufficiency Due To Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Respiratory Insufficiency Due To Defective Ciliary Clearance Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Orthostatic Hypotension Due To Autonomic Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chromosomal Mosaicism Due To Mitotic Instability Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Weakness Due To Upper Motor Neuron Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Cephalhematoma Due To Birth Trauma Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bowing Of Limbs Due To Multiple Fractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Restricted Neck Movement Due To Contractures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Painless Fractures Due To Injury Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Decreased Sweating Due To Autonomic Dysfunction Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Acanthocytosis Due To Band 3 Ht Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Apoptosis related network due to altered Notch3 in ovarian cancer Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset. |
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Setproteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset. |
Defective DNA double strand break response due to BARD1 loss of function Gene Setproteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective DNA double strand break response due to BRCA1 loss of function Gene Setproteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Setproteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset. |
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Setproteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset. |
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Setproteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset. |
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Setproteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Setproteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to ABCA4 loss of function Gene Setproteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to LRAT loss of function Gene Setproteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1LW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1MW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to OPN1SW loss of function Gene Setproteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to RDH12 loss of function Gene Setproteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to RDH5 loss of function Gene Setproteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset. |
Defective visual phototransduction due to STRA6 loss of function Gene Setproteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Setproteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset. |
Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Setproteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset. |
Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Setproteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Male infertility due to globozoospermia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Male infertility due to globozoospermia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Male infertility due to acephalic spermatozoa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombocytopenia due to platelet alloimmunization Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Polyneuropathy due to drug Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked thrombophilia due to factor IX defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to thrombomodulin defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thrombophilia due to activated protein C resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thrombophilia due to thrombin defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial hyperthyroidism due to mutations in TSH receptor Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism due to TSH receptor mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to TUBA1A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peroxisome biogenesis disorder due to PEX1 defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a JAG1 point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to LIS1 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital lipoid adrenal hyperplasia due to STAR deficency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rubinstein-Taybi syndrome due to CREBBP mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hydrocephalus due to aqueductal stenosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lissencephaly due to doublecortin gene mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth delay due to insulin-like growth factor I resistance Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone qualitative anomaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycogen storage disease due to SLC37A4 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Alagille syndrome due to a NOTCH2 point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Methylmalonic acidemia due to transcobalamin receptor defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
DeSanto-Shinawi syndrome due to WAC point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Immunodeficiency due to defect in CD3-gamma Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lactic aciduria due to D-lactic acid Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Kleefstra syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pancytopenia due to IKZF1 mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hao-Fountain syndrome due to USP7 mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary thrombophilia due to congenital histidine-rich Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Juvenile arthritis due to defect in LA Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked acrogigantism due to Xq26 microduplication Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Male infertility due to gonadal dysgenesis or sperm disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Female infertility due to zona pellucida defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fanconi anemia, complementation group O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcytic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary sideroblastic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary sideroblastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia sideroblastic and spinocerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diamond-Blackfan anemia 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diamond-Blackfan anemia 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group M Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group M phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypochromic microcytic anemia with iron overload Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypochromic microcytic anemia with iron overload phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplastic anemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplastic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi anemia, complementation group D2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi anemia, complementation group D2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FA core complex (Fanconi anemia core complex) Gene Setproteins in the FA core complex (Fanconi anemia core complex) protein complex from the CORUM Protein Complexes dataset. |
FA core complex 1 (Fanconi anemia core complex 1) Gene Setproteins in the FA core complex 1 (Fanconi anemia core complex 1) protein complex from the CORUM Protein Complexes dataset. |
FA complex (Fanconi anemia complex), cytoplasmic Gene Setproteins in the FA complex (Fanconi anemia complex), cytoplasmic protein complex from the CORUM Protein Complexes dataset. |
FA complex (Fanconi anemia complex) Gene Setproteins in the FA complex (Fanconi anemia complex) protein complex from the CORUM Protein Complexes dataset. |
Anemia, Aplastic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Aplastic from the curated CTD Gene-Disease Associations dataset. |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset. |