Name

SLEH1 Gene

systemic lupus erythematosus with hemolytic anemia 1

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

GSS Gene

glutathione 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]

GART Gene

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FANCG Gene

Fanconi 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 Gene

Fanconi 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 Gene

Fanconi 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 Gene

Fanconi anemia, complementation group B

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 B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

FANCA Gene

Fanconi 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 Gene

Fanconi 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 Gene

Fanconi anemia, complementation group L

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 L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FANCI Gene

Fanconi 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 Gene

Fanconi anemia group D2 protein-like

CDAN3 Gene

congenital dyserythropoietic anemia, type III

FANCD2 Gene

Fanconi 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 two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

LOC101060064 Gene

Fanconi anemia-associated protein of 24 kDa pseudogene

FANCF Gene

Fanconi 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 Gene

Fanconi anemia, complementation group L pseudogene

FANCD2P1 Gene

Fanconi anemia, complementation group D2 pseudogene 1

DBA2 Gene

Diamond-Blackfan anemia 2

GSTZ1 Gene

glutathione 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 also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2008]

LOC100652871 Gene

glutathione S-transferase theta-4-like

GSTTP1 Gene

glutathione S-transferase theta pseudogene 1

GSTTP2 Gene

glutathione S-transferase theta pseudogene 2

GSTA4 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione S-transferase alpha 1

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]

GSTA2 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione S-transferase mu 2 (muscle) pseudogene 1

GSTA12P Gene

glutathione S-transferase alpha 12, pseudogene

GSTP1P1 Gene

glutathione S-transferase pi 1 pseudogene 1

GSTA8P Gene

glutathione S-transferase alpha 8, pseudogene

GSTT2B Gene

glutathione S-transferase theta 2B (gene/pseudogene)

GSTM3P1 Gene

glutathione S-transferase mu 3 pseudogene 1

LOC100420769 Gene

glutathione S-transferase theta 1 pseudogene

MGST2 Gene

microsomal 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 Gene

microsomal 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 Gene

microsomal 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 Gene

glutathione S-transferase alpha 7, pseudogene

GSTP1 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione S-transferase mu 3 pseudogene 2

GSTT2 Gene

glutathione S-transferase theta 2 (gene/pseudogene)

Glutathione S-transferase (GSTs) 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 members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq, Jul 2008]

LOC102725204 Gene

glutathione S-transferase theta-1-like

GSTA11P Gene

glutathione S-transferase alpha 11, pseudogene

GSTA9P Gene

glutathione S-transferase alpha 9, pseudogene

GPX1P2 Gene

glutathione peroxidase pseudogene 2

GPX1P1 Gene

glutathione peroxidase pseudogene 1

CHAC1 Gene

ChaC glutathione-specific gamma-glutamylcyclotransferase 1

GSTM1 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione S-transferase omega 3, pseudogene

LOC105372958 Gene

glutathione S-transferase theta-1-like

GSTM5P1 Gene

glutathione S-transferase mu 5 pseudogene 1

GSTCD Gene

glutathione S-transferase, C-terminal domain containing

GSR Gene

glutathione 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 Gene

glutathione 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 Gene

glutathione S-transferase alpha 5 pseudogene

GSTA10P Gene

glutathione S-transferase alpha 10, pseudogene

GSTT1 Gene

glutathione 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 and GSTT2. GSTT1 and GSTT2 share 55% amino acid sequence identity and both may play an important role in human carcinogenesis. The GSTT1 and GSTT2 genes have a similar structure, being composed of five exons with identical exon/intron boundaries. This GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes, which are also located on chromosome 22, have been identified. [provided by RefSeq, Jun 2014]

GPX1 Gene

glutathione peroxidase 1

This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GSTA6P Gene

glutathione S-transferase alpha 6, pseudogene

GPX3 Gene

glutathione peroxidase 3

This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]

GPX2 Gene

glutathione peroxidase 2

This gene is a member of the glutathione peroxidase family and encodes a selenium-dependent glutathione peroxidase that is one of two isoenzymes responsible for the majority of the glutathione-dependent hydrogen peroxide-reducing activity in the epithelium of the gastrointestinal tract. The protein encoded by this locus contains a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

GPX5 Gene

glutathione 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 mRNAs for other characterized glutathione peroxidases, this mRNA does not contain a selenocysteine (UGA) codon. Thus, the encoded protein 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 encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008]

GPX4 Gene

glutathione peroxidase 4

This gene encodes a member of the glutathione peroxidase protein family. Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. The encoded protein has been identified as a moonlighting protein based on its ability to serve dual functions as a peroxidase as well as a structural protein in mature spermatozoa. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GPX7 Gene

glutathione peroxidase 7

GPX6 Gene

glutathione peroxidase 6

This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq, Jul 2008]

GPX8 Gene

glutathione peroxidase 8 (putative)

ACSS3 Gene

acyl-CoA synthetase short-chain family member 3

ACSS2 Gene

acyl-CoA synthetase short-chain family member 2

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

ACSS1 Gene

acyl-CoA synthetase short-chain family member 1

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

ASS1P4 Gene

argininosuccinate synthetase 1 pseudogene 4

NARSP1 Gene

asparaginyl-tRNA synthetase pseudogene 1

NARSP2 Gene

asparaginyl-tRNA synthetase pseudogene 2

PAICSP3 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3

PAICSP2 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2

PAICSP1 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1

PAICSP7 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7

PAICSP6 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6

PAICSP5 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5

PAICSP4 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4

LIAS Gene

lipoic acid synthetase

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

TYMS Gene

thymidylate synthetase

Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq, Jul 2008]

MARS2 Gene

methionyl-tRNA synthetase 2, mitochondrial

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

AACSP1 Gene

acetoacetyl-CoA synthetase pseudogene 1

PROSC Gene

proline synthetase co-transcribed homolog (bacterial)

ACSBG1 Gene

acyl-CoA synthetase bubblegum family member 1

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]

ACSBG2 Gene

acyl-CoA synthetase bubblegum family member 2

IARS2P1 Gene

isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1

WARS2P1 Gene

tryptophanyl tRNA synthetase 2 pseudogene 1

AARS Gene

alanyl-tRNA synthetase

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

NADSYN1 Gene

NAD synthetase 1

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

ASNSP6 Gene

asparagine synthetase (glutamine-hydrolyzing) pseudogene 6

ASNSP5 Gene

asparagine synthetase pseudogene 5

ASNSP4 Gene

asparagine synthetase pseudogene 4

ASNSP3 Gene

asparagine synthetase pseudogene 3

ASNSP2 Gene

asparagine synthetase pseudogene 2

ASNSP1 Gene

asparagine synthetase pseudogene 1

CARS2 Gene

cysteinyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]

VARS2 Gene

valyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

ASS1P14 Gene

argininosuccinate synthetase 1 pseudogene 14

ASS1P10 Gene

argininosuccinate synthetase 1 pseudogene 10

ASS1P11 Gene

argininosuccinate synthetase 1 pseudogene 11

ASS1P12 Gene

argininosuccinate synthetase 1 pseudogene 12

ASS1P13 Gene

argininosuccinate synthetase 1 pseudogene 13

ACSM5P1 Gene

acyl-CoA synthetase medium-chain family member 5 pseudogene 1

GARS Gene

glycyl-tRNA synthetase

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008]

PRPS1P2 Gene

phosphoribosyl pyrophosphate synthetase 1 pseudogene 2

RARS Gene

arginyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

EPRS Gene

glutamyl-prolyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]

HARS Gene

histidyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

LOC100421308 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

DARS Gene

aspartyl-tRNA synthetase

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

CARSP1 Gene

cysteinyl-tRNA synthetase pseudogene 1

GARSP1 Gene

glycyl-tRNA synthetase pseudogene 1

ACSF2 Gene

acyl-CoA synthetase family member 2

ACSF3 Gene

acyl-CoA synthetase family member 3

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

FARSBP1 Gene

phenylalanyl-tRNA synthetase, beta subunit pseudogene 1

TARS2 Gene

threonyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

PRORSD1P Gene

prolyl-tRNA synthetase associated domain containing 1, pseudogene

KARS Gene

lysyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACSM1 Gene

acyl-CoA synthetase medium-chain family member 1

ACSM3 Gene

acyl-CoA synthetase medium-chain family member 3

ACSM5 Gene

acyl-CoA synthetase medium-chain family member 5

ACSM4 Gene

acyl-CoA synthetase medium-chain family member 4

ACSM6 Gene

acyl-CoA synthetase medium-chain family member 6

PPCS Gene

phosphopantothenoylcysteine synthetase

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

MTHFSD Gene

methenyltetrahydrofolate synthetase domain containing

WARS Gene

tryptophanyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TARS2P1 Gene

threonyl-tRNA synthetase 2, mitochondrial pseudogene

PRPS1P1 Gene

phosphoribosyl pyrophosphate synthetase 1 pseudogene 1

HARS2 Gene

histidyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

SEPHS2P1 Gene

selenophosphate synthetase 2 pseudogene 1

ACSM2A Gene

acyl-CoA synthetase medium-chain family member 2A

ACSM2B Gene

acyl-CoA synthetase medium-chain family member 2B

LANCL2 Gene

LanC lantibiotic synthetase component C-like 2 (bacterial)

LANCL3 Gene

LanC lantibiotic synthetase component C-like 3 (bacterial)

LANCL1 Gene

LanC lantibiotic synthetase component C-like 1 (bacterial)

This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]

WARS2 Gene

tryptophanyl tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

LOC100421400 Gene

alanyl-tRNA synthetase domain containing 1 pseudogene

GMPSP1 Gene

guanine monphosphate synthetase pseudogene 1

FARS2 Gene

phenylalanyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008]

FARSB Gene

phenylalanyl-tRNA synthetase, beta subunit

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

FARSA Gene

phenylalanyl-tRNA synthetase, alpha subunit

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]

RNASEL Gene

ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)

This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]

AARS2 Gene

alanyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

SEPHS1P6 Gene

selenophosphate synthetase 1 pseudogene 6

ASNS Gene

asparagine synthetase (glutamine-hydrolyzing)

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

PRPS2 Gene

phosphoribosyl pyrophosphate synthetase 2

This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PRPS1 Gene

phosphoribosyl pyrophosphate synthetase 1

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

LOC100420983 Gene

acyl-CoA synthetase medium-chain family member 6 pseudogene

LOC100421294 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

SARS2 Gene

seryl-tRNA synthetase 2, mitochondrial

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

MTHFS Gene

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

LOC100130673 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

VARS Gene

valyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

SARS Gene

seryl-tRNA synthetase

This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]

LOC100887080 Gene

acyl-CoA synthetase medium-chain family member 4 pseudogene

LOC100419610 Gene

thymidylate synthetase pseudogene

IARS Gene

isoleucyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

CAD Gene

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

LARS Gene

leucyl-tRNA synthetase

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]

LARS2 Gene

leucyl-tRNA synthetase 2, mitochondrial

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

AIMP1P1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1

AIMP1P2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2

FLJ43315 Gene

asparagine synthetase pseudogene

ASS1P8 Gene

argininosuccinate synthetase 1 pseudogene 8

ASS1P9 Gene

argininosuccinate synthetase 1 pseudogene 9

ASS1P6 Gene

argininosuccinate synthetase 1 pseudogene 6

ASS1P7 Gene

argininosuccinate synthetase 1 pseudogene 7

ASS1P5 Gene

argininosuccinate synthetase 1 pseudogene 5

ASS1P2 Gene

argininosuccinate synthetase 1 pseudogene 2

ASS1P3 Gene

argininosuccinate synthetase 1 pseudogene 3

ASS1P1 Gene

argininosuccinate synthetase 1 pseudogene 1

LOC101060199 Gene

acyl-coenzyme A synthetase ACSM6, mitochondrial-like

UMPS Gene

uridine monophosphate synthetase

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

SEPHS1P2 Gene

selenophosphate synthetase 1 pseudogene 2

SEPHS1P3 Gene

selenophosphate synthetase 1 pseudogene 3

QARS Gene

glutaminyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

LOC100421637 Gene

acyl-CoA synthetase long-chain family member 3 pseudogene

PAICS Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase

This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

YARS Gene

tyrosyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]

ASNSD1 Gene

asparagine synthetase domain containing 1

AACS Gene

acetoacetyl-CoA synthetase

HLCS Gene

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

KARSP3 Gene

lysyl-tRNA synthetase pseudogene 3

KARSP2 Gene

lysyl-tRNA synthetase pseudogene 2

KARSP1 Gene

lysyl-tRNA synthetase pseudogene 1

TARS Gene

threonyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]

CARS Gene

cysteinyl-tRNA synthetase

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

MTHFD1 Gene

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

NARS Gene

asparaginyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]

OAS1 Gene

2'-5'-oligoadenylate synthetase 1, 40/46kDa

This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OAS3 Gene

2'-5'-oligoadenylate synthetase 3, 100kDa

This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]

OAS2 Gene

2'-5'-oligoadenylate synthetase 2, 69/71kDa

This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OASL Gene

2'-5'-oligoadenylate synthetase-like

PRPS1L1 Gene

phosphoribosyl pyrophosphate synthetase 1-like 1

This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]

TARSL2 Gene

threonyl-tRNA synthetase-like 2

PARS2 Gene

prolyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

EARS2 Gene

glutamyl-tRNA synthetase 2, mitochondrial

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

RARS2 Gene

arginyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008]

MARS Gene

methionyl-tRNA synthetase

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]

YARS2 Gene

tyrosyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

NARS2 Gene

asparaginyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

CMAS Gene

cytidine monophosphate N-acetylneuraminic acid synthetase

Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012]

LGSN Gene

lengsin, lens protein with glutamine synthetase domain

This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GLULP1 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 1

GLULP2 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 2

GLULP3 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 3

GLULP4 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 4

GLULP5 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 5

GLULP6 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 6

WARSP1 Gene

tryptophanyl-tRNA synthetase pseudogene 1

SEPHS1P4 Gene

selenophosphate synthetase 1 pseudogene 4

SEPHS1P7 Gene

selenophosphate synthetase 1 pseudogene 7

SEPHS1P1 Gene

selenophosphate synthetase 1 pseudogene 1

AIMP2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008]

AIMP1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

SEPHS2 Gene

selenophosphate synthetase 2

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. Genes encoding selenocysteine contain a stem-loop secondary structure in their 3' UTR called a selenocysteine insertion sequence (SECIS) element. The protein encoded by this gene contains a selenocysteine residue in its predicted active site. There is a pseudogene for this gene on chromosome 5. [provided by RefSeq, Aug 2013]

SEPHS1 Gene

selenophosphate synthetase 1

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]

IARS2 Gene

isoleucyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

ACSL3 Gene

acyl-CoA synthetase long-chain family member 3

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ACSL1 Gene

acyl-CoA synthetase long-chain family member 1

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ACSL6 Gene

acyl-CoA synthetase long-chain family member 6

The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]

ACSL4 Gene

acyl-CoA synthetase long-chain family member 4

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

ACSL5 Gene

acyl-CoA synthetase long-chain family member 5

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FLAD1 Gene

flavin adenine dinucleotide synthetase 1

This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

RARSP1 Gene

arginyl-tRNA synthetase pseudogene 1

LOC100422408 Gene

LanC lantibiotic synthetase component C-like 3 (bacterial) pseudogene

PRPSAP1 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 1

PRPSAP2 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 2

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

DARS2 Gene

aspartyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Glutathione synthetase deficiency Gene Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia; anemia, sickle cell; hemoglobin c disease; hemoglobin sc disease; heterozygous haemoglobin s; malaria, falciparum; parasitemia; sickle cell anemia; sickle cell trait Gene Set

From 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.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, iron deficiency; anemia of chronic disease Gene Set

From 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 Set

From 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 Set

From 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.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

Hemolytic anemia Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Anemia, Hemolytic, Congenital Gene Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hemolytic, Autoimmune from the curated CTD Gene-Disease Associations dataset.

hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital hemolytic anemia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

hemolytic anemia Gene Set

From DISEASES Experimental Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, rh-null, regulator type phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

carbamoyl phosphate synthetase i deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease carbamoyl phosphate synthetase i deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease holocarboxylase synthetase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

holocarboxylase synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the holocarboxylase synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

carbamoylphosphate synthetase i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the carbamoylphosphate synthetase i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

asparagine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the asparagine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; bacterial infections; enterobacteriaceae infections; osteomyelitis; sepsis; sickle cell anemia; staphylococcal infections; systemic infection; unspecified osteomyelitis nos Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From 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 Set

From 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 Set

From DISEASES Experimental Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the iron-refractory iron deficiency anemia phenotype from the curated OMIM Gene-Disease Associations dataset.

Atypical hemolytic-uremic syndrome 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease hemolytic-uremic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hemolytic-uremic syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the {hemolytic uremic syndrome, atypical, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset.

Glutathione Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Glutathione from the curated CTD Gene-Chemical Interactions dataset.

N-ethylmaleimide-S-glutathione Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical gamma-glutamyl-glutathione from the curated CTD Gene-Chemical Interactions dataset.

glutathione sulfinamide Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Glutathione Disulfide from the curated CTD Gene-Chemical Interactions dataset.

glutathione-C4 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical glutathione-C4 from the curated CTD Gene-Chemical Interactions dataset.

Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the Glutathione drug from the curated DrugBank Drug Targets dataset.

Glutathione S-(2,4 Dinitrobenzene) Gene Set

From DrugBank Drug Targets

interacting proteins for the Glutathione S-(2,4 Dinitrobenzene) drug from the curated DrugBank Drug Targets dataset.

S-(N-Hydroxy-N-Iodophenylcarbamoyl)Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the S-(N-Hydroxy-N-Iodophenylcarbamoyl)Glutathione drug from the curated DrugBank Drug Targets dataset.

Oxidized Glutathione Disulfide Gene Set

From DrugBank Drug Targets

interacting proteins for the Oxidized Glutathione Disulfide drug from the curated DrugBank Drug Targets dataset.

S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione drug from the curated DrugBank Drug Targets dataset.

S-METHYL-GLUTATHIONE Gene Set

From DrugBank Drug Targets

interacting proteins for the S-METHYL-GLUTATHIONE drug from the curated DrugBank Drug Targets dataset.

S-Hydroxymethyl Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the S-Hydroxymethyl Glutathione drug from the curated DrugBank Drug Targets dataset.

Glutathione Sulfonic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the Glutathione Sulfonic Acid drug from the curated DrugBank Drug Targets dataset.

GLUTATHIONE SULFINATE Gene Set

From DrugBank Drug Targets

interacting proteins for the GLUTATHIONE SULFINATE drug from the curated DrugBank Drug Targets dataset.

S-(P-Nitrobenzyl)Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the S-(P-Nitrobenzyl)Glutathione drug from the curated DrugBank Drug Targets dataset.

S-Benzyl-Glutathione Gene Set

From DrugBank Drug Targets

interacting proteins for the S-Benzyl-Glutathione drug from the curated DrugBank Drug Targets dataset.

decreased glutathione production. Gene Set

From 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 Set

From 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 Set

From GO Biological Process Annotations

genes participating in the glutathione derivative biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

glutathione catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the glutathione catabolic process biological process from the curated GO Biological Process Annotations dataset.

glutathione transport Gene Set

From GO Biological Process Annotations

genes participating in the glutathione transport biological process from the curated GO Biological Process Annotations dataset.

glutathione derivative metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the glutathione derivative metabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of glutathione peroxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations dataset.

regulation of glutathione peroxidase activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of glutathione peroxidase activity biological process from the curated GO Biological Process Annotations dataset.

glutathione metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the glutathione metabolic process biological process from the curated GO Biological Process Annotations dataset.

glutathione biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the glutathione biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

glutathione dehydrogenase (ascorbate) activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione dehydrogenase (ascorbate) activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione disulfide oxidoreductase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione disulfide oxidoreductase activity molecular function from the curated GO Molecular Function Annotations dataset.

s-(hydroxymethyl)glutathione dehydrogenase activity Gene Set

From GO Molecular Function Annotations

genes performing the s-(hydroxymethyl)glutathione dehydrogenase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione synthase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione synthase activity molecular function from the curated GO Molecular Function Annotations dataset.

protein-disulfide reductase (glutathione) activity Gene Set

From GO Molecular Function Annotations

genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione oxidoreductase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione oxidoreductase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione-disulfide reductase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione transferase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione transferase activity molecular function from the curated GO Molecular Function Annotations dataset.

phospholipid-hydroperoxide glutathione peroxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the phospholipid-hydroperoxide glutathione peroxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione hydrolase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione hydrolase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione peroxidase activity Gene Set

From GO Molecular Function Annotations

genes performing the glutathione peroxidase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione binding Gene Set

From GO Molecular Function Annotations

genes performing the glutathione binding molecular function from the curated GO Molecular Function Annotations dataset.

S-(2-Chloroacetyl)glutathione Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the S-(2-Chloroacetyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset.

Oxidized glutathione Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Oxidized glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset.

S-(Hydroxymethyl)glutathione Gene Set

From 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 Set

From HMDB Metabolites of Enzymes

interacting proteins for the S-(1,2-Dichlorovinyl)glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset.

Glutathione Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset.

2-Hydroxyestrone-4-S-glutathione Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From HMDB Metabolites of Enzymes

interacting proteins for the S-(PGJ2)-glutathione metabolite from the curated HMDB Metabolites of Enzymes dataset.

Glutathione episulfonium ion Gene Set

From 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 Set

From 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 Set

From HumanCyc Pathways

proteins participating in the glutathione-mediated detoxification pathway from the HumanCyc Pathways dataset.

glutathione biosynthesis Gene Set

From HumanCyc Pathways

proteins participating in the glutathione biosynthesis pathway from the HumanCyc Pathways dataset.

glutathione redox reactions I Gene Set

From HumanCyc Pathways

proteins participating in the glutathione redox reactions I pathway from the HumanCyc Pathways dataset.

Glutathione peroxidase Gpx7, putative Gene Set

From 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 degradosome, DUG1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 peroxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutathione peroxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutathione S-transferase, N-terminal Gene Set

From 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 Set

From 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 Set

From 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 peroxidase active site Gene Set

From 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 synthase domain Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 peroxidase conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutathione peroxidase conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutathione S-transferase, omega-class Gene Set

From 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 Set

From KEGG Pathways

proteins participating in the glutathione metabolism pathway from the KEGG Pathways dataset.

abnormal glutathione peroxidase activity Gene Set

From 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 Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased glutathione peroxidase activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased glutathione level Gene Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways

proteins participating in the Glutathione conjugation pathway from the Reactome Pathways dataset.

Glutathione synthesis and recycling Gene Set

From Reactome Pathways

proteins participating in the Glutathione synthesis and recycling pathway from the Reactome Pathways dataset.

Glutathione and one carbon metabolism(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Glutathione and one carbon metabolism(Mus musculus) pathway from the Wikipathways Pathways dataset.

Glutathione metabolism(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Glutathione metabolism(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Glutathione metabolism(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Glutathione metabolism(Mus musculus) pathway from the Wikipathways Pathways dataset.

Phosphoribosylpyrophosphate synthetase superactivity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoribosylpyrophosphate synthetase superactivity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

aminoacyl-trna synthetase multienzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the aminoacyl-trna synthetase multienzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

enterobactin synthetase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the enterobactin synthetase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

aminoacyl-trna synthetase multienzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the aminoacyl-trna synthetase multienzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Succinyl-CoA synthetase, GDP-forming Gene Set

From CORUM Protein Complexes

proteins in the Succinyl-CoA synthetase, GDP-forming protein complex from the CORUM Protein Complexes dataset.

Succinyl-CoA synthetase, ADP-forming Gene Set

From CORUM Protein Complexes

proteins in the Succinyl-CoA synthetase, ADP-forming protein complex from the CORUM Protein Complexes dataset.

Phosphoribosylpyrophosphate Synthetase Superactivity Gene Set

From CTD Gene-Disease Associations

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

synthetase Gene Set

From GeneRIF Biological Term Annotations

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

aminoacyl-trna synthetase multienzyme complex Gene Set

From GO Cellular Component Annotations

proteins localized to the aminoacyl-trna synthetase multienzyme complex cellular component from the curated GO Cellular Component Annotations dataset.

malonyl-coa synthetase activity Gene Set

From GO Molecular Function Annotations

genes performing the malonyl-coa synthetase activity molecular function from the curated GO Molecular Function Annotations dataset.

2'-5'-oligoadenylate synthetase activity Gene Set

From GO Molecular Function Annotations

genes performing the 2'-5'-oligoadenylate synthetase activity molecular function from the curated GO Molecular Function Annotations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, B3/B4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, B3/B4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GMP synthetase ATP pyrophosphatase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GMP synthetase ATP pyrophosphatase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Zinc finger, DNA glycosylase/AP lyase/isoleucyl tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc finger, DNA glycosylase/AP lyase/isoleucyl tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Folylpolyglutamate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Folylpolyglutamate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, alpha subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prolyl-tRNA synthetase, class IIa, bacterial-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prolyl-tRNA synthetase, class IIa, bacterial-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, core domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, core domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (D/K/N) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (D/K/N) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leucyl-tRNA synthetase, class Ia, archaeal/eukaryotic cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucyl-tRNA synthetase, class Ia, archaeal/eukaryotic cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginyl tRNA synthetase N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginyl tRNA synthetase N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Delta l-pyrroline-5-carboxylate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Delta l-pyrroline-5-carboxylate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosyl pyrophosphate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosyl pyrophosphate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine-dependent NAD(+) synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine-dependent NAD(+) synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class 1a, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class 1a, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SAICAR synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SAICAR synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (D/K/N)-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (D/K/N)-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase superfamily Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase superfamily protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine-tRNA synthetase, type1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine-tRNA synthetase, type1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, C-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, C-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Threonyl/alanyl tRNA synthetase, SAD Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Threonyl/alanyl tRNA synthetase, SAD protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ATP-grasp fold, succinyl-CoA synthetase-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ATP-grasp fold, succinyl-CoA synthetase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lanthionine synthetase C-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lanthionine synthetase C-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aspartyl/Asparaginyl-tRNA synthetase, class IIb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aspartyl/Asparaginyl-tRNA synthetase, class IIb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase, beta subunit, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl/Leucyl tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl/Leucyl tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, glycine-rich site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, glycine-rich site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2-5-oligoadenylate synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2-5-oligoadenylate synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase, beta subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class Ia Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class Ia protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class Ic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class Ic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl-tRNA synthetase, Zn-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl-tRNA synthetase, Zn-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl-tRNA synthetase, archaeal/eukaryotic cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl-tRNA synthetase, archaeal/eukaryotic cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

OB-fold nucleic acid binding domain, AA-tRNA synthetase-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the OB-fold nucleic acid binding domain, AA-tRNA synthetase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyprenyl synthetase-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyprenyl synthetase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase/guanido kinase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase/guanido kinase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cysteinyl-tRNA synthetase/mycothiol ligase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cysteinyl-tRNA synthetase/mycothiol ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase isozyme 2, chordates Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase isozyme 2, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl-tRNA synthetase, class II, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysyl-tRNA synthetase, class II, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase isozyme 1, chordates Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase isozyme 1, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, N-terminal conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, N-terminal conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SAICAR synthetase/ADE2, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SAICAR synthetase/ADE2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NAD(+) synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NAD(+) synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prolyl-tRNA synthetase, class II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prolyl-tRNA synthetase, class II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbamoyl-phosphate synthetase, large subunit oligomerisation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbamoyl-phosphate synthetase, large subunit oligomerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA synthetase, B5-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA synthetase, B5-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Folylpolyglutamate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Folylpolyglutamate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, beta-Grasp Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, beta-Grasp protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyprenyl synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyprenyl synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Selenophosphate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Selenophosphate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Argininosuccinate synthetase, catalytic/multimerisation domain body Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Argininosuccinate synthetase, catalytic/multimerisation domain body protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2-5-oligoadenylate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2-5-oligoadenylate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

AMP-dependent synthetase/ligase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AMP-dependent synthetase/ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Histidyl tRNA synthetase-related domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Histidyl tRNA synthetase-related domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD synthetase with the MoaB/Mog domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD synthetase with the MoaB/Mog domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

phosphoribosylpyrophosphate synthetase superactivity Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphoribosylpyrophosphate synthetase superactivity phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

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

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

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

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

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

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Fanconi anemia, complementation group O Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CORUM Protein Complexes

proteins 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 Set

From CORUM Protein Complexes

proteins 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 Set

From CORUM Protein Complexes

proteins in the FA complex (Fanconi anemia complex), cytoplasmic protein complex from the CORUM Protein Complexes dataset.

FA complex (Fanconi anemia complex) Gene Set

From CORUM Protein Complexes

proteins in the FA complex (Fanconi anemia complex) protein complex from the CORUM Protein Complexes dataset.

Anemia, Aplastic Gene Set

From 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 Set

From 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.

FANCONI ANEMIA, COMPLEMENTATION GROUP C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP C from the curated CTD Gene-Disease Associations dataset.

Diamond-Blackfan Anemia 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diamond-Blackfan Anemia 4 from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP E Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP E from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP F Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP F from the curated CTD Gene-Disease Associations dataset.

Anemia, Diamond-Blackfan, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Diamond-Blackfan, 2 from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group J from the curated CTD Gene-Disease Associations dataset.

Anemia, sideroblastic spinocerebellar ataxia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, sideroblastic spinocerebellar ataxia from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group B from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia, Complementation Group N Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fanconi Anemia, Complementation Group N from the curated CTD Gene-Disease Associations dataset.

MEGALOBLASTIC ANEMIA 1 Gene Set

From CTD Gene-Disease Associations

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

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Fanconi Anemia Gene Set

From CTD Gene-Disease Associations

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

Anemia, Hypoplastic, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset.

Anemia, Diamond-Blackfan Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Diamond-Blackfan from the curated CTD Gene-Disease Associations dataset.

Anemia, Megaloblastic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Sideroblastic Gene Set

From CTD Gene-Disease Associations

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

Anemia, Sickle Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Sickle Cell from the curated CTD Gene-Disease Associations dataset.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FANCONI ANEMIA, COMPLEMENTATION GROUP D2 from the curated CTD Gene-Disease Associations dataset.

Thiamine responsive megaloblastic anemia syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiamine responsive megaloblastic anemia syndrome from the curated CTD Gene-Disease Associations dataset.

Anemia, Macrocytic Gene Set

From CTD Gene-Disease Associations

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