| Name |
|---|
AKR7A2 Genealdo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
AKR7A3 Genealdo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] |
AKR1B1 Genealdo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] |
AKR1B10 Genealdo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] |
AKR1A1 Genealdo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] |
LOC159007 Genealdo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) pseudogene |
GRHPR Geneglyoxylate reductase/hydroxypyruvate reductase This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008] |
PECR Geneperoxisomal trans-2-enoyl-CoA reductase Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Mar 2025] |
SRD5A3 Genesteroid 5 alpha-reductase 3 The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011] |
SRD5A2 Genesteroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] |
SRD5A1 Genesteroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008] |
LOC100130018 Geneprostaglandin reductase 1 pseudogene |
SDR42E1 Geneshort chain dehydrogenase/reductase family 42E, member 1 Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CRYZL1 Genecrystallin, zeta (quinone reductase)-like 1 This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008] |
DHRS11 Genedehydrogenase/reductase (SDR family) member 11 Enables 3-keto sterol reductase activity and steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in steroid biosynthetic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS12 Genedehydrogenase/reductase (SDR family) member 12 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] |
DHRS13 Genedehydrogenase/reductase (SDR family) member 13 Predicted to enable oxidoreductase activity. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
FAR2P1 Genefatty acyl CoA reductase 2 pseudogene 1 |
DCXR Genedicarbonyl/L-xylulose reductase The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] |
AKR7A2P1 Genealdo-keto reductase family 7, member A2 pseudogene 1 |
SDR42E2 Geneshort chain dehydrogenase/reductase family 42E, member 2 Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025] |
RRM2 Generibonucleotide reductase M2 This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009] |
RRM1 Generibonucleotide reductase M1 This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
MSRA Genemethionine sulfoxide reductase A This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
KDSR Gene3-ketodihydrosphingosine reductase The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008] |
PTGR1 Geneprostaglandin reductase 1 This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] |
PTGR2 Geneprostaglandin reductase 2 This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] |
MGC34796 Genesepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene |
LOC100418560 Genedihydrofolate reductase pseudogene |
QDPR Genequinoid dihydropteridine reductase This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008] |
DHFRL1 Genedihydrofolate reductase-like 1 Enables dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS4L1 Genedehydrogenase/reductase (SDR family) member 4 like 1 Predicted to enable carbonyl reductase (NADPH) activity. Predicted to be involved in retinal metabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS4L2 Genedehydrogenase/reductase (SDR family) member 4 like 2 This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] |
AKR1B15 Genealdo-keto reductase family 1, member B15 Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
FRRS1L Geneferric-chelate reductase 1-like This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016] |
LOC644310 Geneubiquinol-cytochrome c reductase, complex III subunit X pseudogene |
SRD5A1P1 Genesteroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) |
LOC100418558 Genedihydrofolate reductase pseudogene |
DHRS7B Genedehydrogenase/reductase (SDR family) member 7B Predicted to enable acylglycerone-phosphate reductase (NADP+) activity. Predicted to be involved in ether lipid biosynthetic process. Predicted to act upstream of or within several processes, including brown fat cell differentiation; phosphatidylcholine biosynthetic process; and regulation of cold-induced thermogenesis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS7C Genedehydrogenase/reductase (SDR family) member 7C Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in D-glucose import; intracellular calcium ion homeostasis; and regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Predicted to be located in longitudinal sarcoplasmic reticulum and sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MSRB1P1 Genemethionine sulfoxide reductase B1 pseudogene 1 |
MECR Genemitochondrial trans-2-enoyl-CoA reductase The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017] |
LOC100420205 Generibonucleotide reductase M2 pseudogene |
TECRL Genetrans-2,3-enoyl-CoA reductase-like The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017] |
LOC100132056 Genedihydrofolate reductase pseudogene |
BLVRB Genebiliverdin reductase B Enables biliverdin reductase [NAD(P)+] activity; peptidyl-cysteine S-nitrosylase activity; and riboflavin reductase (NADPH) activity. Involved in heme catabolic process; megakaryocyte differentiation; and negative regulation of insulin receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
BLVRA Genebiliverdin reductase A The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] |
LOC728667 Genedehydrogenase/reductase (SDR family) member 2 pseudogene |
FAR2P4 Genefatty acyl CoA reductase 2 pseudogene 4 |
UQCR10 Geneubiquinol-cytochrome c reductase, complex III subunit X UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008] |
UQCR11 Geneubiquinol-cytochrome c reductase, complex III subunit XI This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009] |
MTRR Gene5-methyltetrahydrofolate-homocysteine methyltransferase reductase This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
UQCRQ Geneubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008] |
UQCRH Geneubiquinol-cytochrome c reductase hinge protein Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025] |
UQCRB Geneubiquinol-cytochrome c reductase binding protein This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011] |
LOC100421569 Geneglyoxylate reductase 1 homolog (Arabidopsis) pseudogene |
UQCRC2P1 Geneubiquinol-cytochrome c reductase core protein II pseudogene 1 |
UQCRFS1P1 Geneubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 Predicted to enable oxidoreductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
UQCRFS1P2 Geneubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 |
UQCRFS1P3 Geneubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3 |
CBR4 Genecarbonyl reductase 4 Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in fatty acid biosynthetic process; glycoside metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex. [provided by Alliance of Genome Resources, Mar 2025] |
CBR1 Genecarbonyl reductase 1 The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] |
CBR3 Genecarbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] |
SDR16C6P Geneshort chain dehydrogenase/reductase family 16C, member 6, pseudogene |
FAR2P3 Genefatty acyl CoA reductase 2 pseudogene 3 |
FAR2P2 Genefatty acyl CoA reductase 2 pseudogene 2 |
MSRB1 Genemethionine sulfoxide reductase B1 The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017] |
MSRB3 Genemethionine sulfoxide reductase B3 The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010] |
LOC727947 Geneubiquinol-cytochrome c reductase binding protein pseudogene |
DHRS9 Genedehydrogenase/reductase (SDR family) member 9 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
DHRS7 Genedehydrogenase/reductase (SDR family) member 7 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016] |
DHRS4 Genedehydrogenase/reductase (SDR family) member 4 Enables identical protein binding activity; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor; and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in several processes, including ketone metabolic process; positive regulation of reactive oxygen species metabolic process; and steroid metabolic process. Located in nucleus and peroxisomal membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS2 Genedehydrogenase/reductase (SDR family) member 2 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] |
DHRS3 Genedehydrogenase/reductase (SDR family) member 3 Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in regulation of retinoic acid receptor signaling pathway and retinoid metabolic process. Predicted to act upstream of or within several processes, including heart morphogenesis; negative regulation of retinoic acid receptor signaling pathway; and regulation of ossification. Predicted to be located in endoplasmic reticulum membrane and photoreceptor outer segment membrane. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025] |
DHRS1 Genedehydrogenase/reductase (SDR family) member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] |
DHRSX Genedehydrogenase/reductase (SDR family) X-linked Enables dolichal reductase activity and polyprenol dehydrogenase activity. Involved in dolichol biosynthetic process and positive regulation of autophagy. Located in extracellular region. Is active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025] |
VKORC1 Genevitamin K epoxide reductase complex, subunit 1 This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] |
RRM2B Generibonucleotide reductase M2 B (TP53 inducible) This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] |
AKR1B1P4 Genealdo-keto reductase family 1, member B1 pseudogene 4 |
AKR1B1P5 Genealdo-keto reductase family 1, member B1 pseudogene 5 |
AKR1B1P6 Genealdo-keto reductase family 1, member B1 pseudogene 6 |
AKR1B1P7 Genealdo-keto reductase family 1, member B1 pseudogene 7 |
AKR1B1P1 Genealdehyde reductase family 1, member B1 pseudogene 1 |
AKR1B1P2 Genealdo-keto reductase family 1, member B1 pseudogene 2 |
AKR1B1P3 Genealdo-keto reductase family 1, member B1 pseudogene 3 |
AKR1B1P8 Genealdo-keto reductase family 1, member B1 pseudogene 8 |
VKORC1L1 Genevitamin K epoxide reductase complex, subunit 1-like 1 This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016] |
AKR1C7P Genealdo-keto reductase family 1, member C7, pseudogene |
RRM2P4 Generibonucleotide reductase M2 polypeptide pseudogene 4 |
RRM2P3 Generibonucleotide reductase M2 polypeptide pseudogene 3 |
RRM2P2 Generibonucleotide reductase M2 polypeptide pseudogene 2 |
CYBRD1 Genecytochrome b reductase 1 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008] |
LOC441241 Genevitamin K epoxide reductase complex, subunit 1-like 1 pseudogene |
AKR1B10P1 Genealdo-keto reductase family 1, member B10 pseudogene 1 |
AKR1B10P2 Genealdo-keto reductase family 1, member B10 pseudogene 2 |
UQCRBP2 Geneubiquinol-cytochrome c reductase binding protein pseudogene 2 |
UQCRBP3 Geneubiquinol-cytochrome c reductase binding protein pseudogene 3 |
UQCRBP1 Geneubiquinol-cytochrome c reductase binding protein pseudogene 1 |
GMPR2 Geneguanosine monophosphate reductase 2 This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] |
LOC100422348 Geneshort chain dehydrogenase/reductase family 42E, member 1 pseudogene |
LOC100422346 Geneshort chain dehydrogenase/reductase family 42E, member 1 pseudogene |
LOC100422347 Geneshort chain dehydrogenase/reductase family 42E, member 1 pseudogene |
SPR Genesepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] |
TECRP1 Genetrans-2,3-enoyl-CoA reductase pseudogene 1 |
TECRP2 Genetrans-2,3-enoyl-CoA reductase pseudogene 2 |
MTHFR Genemethylenetetrahydrofolate reductase (NAD(P)H) The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] |
AKR1C8P Genealdo-keto reductase family 1, member C8, pseudogene Predicted to enable aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in prostaglandin biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100418573 Genedihydrofolate reductase-like 1 pseudogene |
FRRS1 Geneferric-chelate reductase 1 Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008] |
FAR1P1 Genefatty acyl CoA reductase 1 pseudogene 1 |
SDR42E1P1 Geneshort chain dehydrogenase/reductase family 42E, member 1 pseudogene 1 |
CRYZP1 Genecrystallin, zeta (quinone reductase) pseudogene 1 |
CRYZP2 Genecrystallin, zeta (quinone reductase) pseudogene 2 |
LOC100420006 Genefatty acyl CoA reductase 2 pseudogene |
UQCRHL Geneubiquinol-cytochrome c reductase hinge protein-like This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008] |
AKR1C1 Genealdo-keto reductase family 1, member C1 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] |
UQCRHP3 Geneubiquinol-cytochrome c reductase hinge protein pseudogene 3 |
LOC100420653 Geneguanosine monophosphate reductase pseudogene |
DHFRP2 Genedihydrofolate reductase pseudogene 2 |
BCS1L GeneBC1 (ubiquinol-cytochrome c reductase) synthesis-like This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016] |
FDXR Geneferredoxin reductase This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] |
AKR1D1P1 Genealdo-keto reductase family 1, member D1 pseudogene 1 |
UQCRFS1 Geneubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025] |
AKR1C4 Genealdo-keto reductase family 1, member C4 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] |
AKR1C2 Genealdo-keto reductase family 1, member C2 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
HMGCR Gene3-hydroxy-3-methylglutaryl-CoA reductase HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
AKR1C3 Genealdo-keto reductase family 1, member C3 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
LOC100420171 Genefatty acyl CoA reductase 2 pseudogene |
LOC100420172 Genefatty acyl CoA reductase 2 pseudogene |
LOC100420175 Genefatty acyl CoA reductase 2 pseudogene |
NDUFS5P3 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 3 |
NDUFS5P2 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 2 |
NDUFS5P7 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 7 |
NDUFS5P5 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 5 |
NDUFS5P4 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 4 |
SDR9C7 Geneshort chain dehydrogenase/reductase family 9C, member 7 This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010] |
GLYR1 Geneglyoxylate reductase 1 homolog (Arabidopsis) Enables several functions, including chromatin-protein adaptor activity; methylated histone binding activity; and nucleosome binding activity. Involved in transcription elongation-coupled chromatin remodeling and transcription initiation-coupled chromatin remodeling. Located in cytosol and nucleoplasm. Part of nucleosome. Is active in chromatin. [provided by Alliance of Genome Resources, Mar 2025] |
SQRDL Genesulfide quinone reductase-like (yeast) The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012] |
AKR7L Genealdo-keto reductase family 7-like (gene/pseudogene) This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017] |
AKR1C5P Genealdo-keto reductase family 1, member C5, pseudogene |
CYB5R4 Genecytochrome b5 reductase 4 NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010] |
CYB5R3 Genecytochrome b5 reductase 3 This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010] |
CYB5R2 Genecytochrome b5 reductase 2 The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
CYB5R1 Genecytochrome b5 reductase 1 Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
CYB5RL Genecytochrome b5 reductase-like Predicted to enable cytochrome-b5 reductase activity, acting on NAD(P)H. Predicted to be involved in bicarbonate transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NDUFS5P1 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 1 |
UQCRC2 Geneubiquinol-cytochrome c reductase core protein II The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015] |
UQCRC1 Geneubiquinol-cytochrome c reductase core protein I Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025] |
RETSAT Generetinol saturase (all-trans-retinol 13,14-reductase) Predicted to enable all-trans-retinol 13,14-reductase activity. Predicted to be involved in retinol metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TXNRD3NB Genethioredoxin reductase 3 neighbor |
LOC100419293 Genecarbonyl reductase 1 pseudogene |
CRYZ Genecrystallin, zeta (quinone reductase) Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008] |
KAR GeneAromatic alpha-keto acid reductase |
DHFRP1 Genedihydrofolate reductase pseudogene 1 Enables dihydrofolate reductase activity; heterocyclic compound binding activity; and nucleic acid binding activity. Involved in several processes, including dihydrofolate metabolic process; tetrahydrobiopterin biosynthetic process; and tetrahydrofolate biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NDUFS1 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] |
NDUFS2 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
NDUFS3 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009] |
NDUFS4 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
NDUFS5 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010] |
NDUFS6 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009] |
NDUFS7 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008] |
NDUFS8 GeneNADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010] |
PYCR2 Genepyrroline-5-carboxylate reductase family, member 2 This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] |
PYCR1 Genepyrroline-5-carboxylate reductase 1 This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
PYCRL Genepyrroline-5-carboxylate reductase-like This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016] |
AKR1D1 Genealdo-keto reductase family 1, member D1 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] |
FAR1 Genefatty acyl CoA reductase 1 The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015] |
FAR2 Genefatty acyl CoA reductase 2 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] |
UQCC1 Geneubiquinol-cytochrome c reductase complex assembly factor 1 This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] |
UQCC3 Geneubiquinol-cytochrome c reductase complex assembly factor 3 Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014] |
UQCC2 Geneubiquinol-cytochrome c reductase complex assembly factor 2 This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012] |
LOC100418559 Genedihydrofolate reductase pseudogene |
AKR1E2 Genealdo-keto reductase family 1, member E2 The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
AKR1C6P Genealdo-keto reductase family 1, member C6, pseudogene |
MSRB2 Genemethionine sulfoxide reductase B2 Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
LOC1720 Genedihydrofolate reductase pseudogene |
LOC100422339 Geneshort chain dehydrogenase/reductase family 42E, member 1 pseudogene |
GMPR Geneguanosine monophosphate reductase This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009] |
GSR Geneglutathione reductase This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010] |
TXNRD2 Genethioredoxin reductase 2 The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017] |
TXNRD3 Genethioredoxin reductase 3 The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017] |
TXNRD1 Genethioredoxin reductase 1 The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017] |
SDR16C5 Geneshort chain dehydrogenase/reductase family 16C, member 5 This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
UQCRHP4 Geneubiquinol-cytochrome c reductase hinge protein pseudogene 4 |
UQCRHP1 Geneubiquinol-cytochrome c reductase hinge protein pseudogene 1 |
UQCRHP2 Geneubiquinol-cytochrome c reductase hinge protein pseudogene 2 |
DECR2 Gene2,4-dienoyl CoA reductase 2, peroxisomal Enables 2,4-dienoyl-CoA reductase (NADPH) activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in unsaturated fatty acid biosynthetic process. Predicted to be located in cytosol and peroxisomal membrane. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025] |
DECR1 Gene2,4-dienoyl CoA reductase 1, mitochondrial Enables 2,4-dienoyl-CoA reductase (NADPH) activity; NADPH binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in cytosol; mitochondrion; and nucleoplasm. Part of catalytic complex. [provided by Alliance of Genome Resources, Mar 2025] |
DHFR Genedihydrofolate reductase Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] |
SRD5A3P1 Genesteroid 5 alpha-reductase 3 pseudogene 1 |
TECR Genetrans-2,3-enoyl-CoA reductase This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] |
SDR39U1 Geneshort chain dehydrogenase/reductase family 39U, member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014] |
LOC105371187 Geneputative short-chain dehydrogenase/reductase family 42E member 2 |
PYCR3 Genepyrroline-5-carboxylate reductase 3 This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016] |
UQCC4 Geneubiquinol-cytochrome c reductase complex assembly factor 4 Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
PTGR3 Geneprostaglandin reductase 3 Predicted to enable 15-oxoprostaglandin 13-oxidase [NAD(P)+] activity. Predicted to be involved in negative regulation of fat cell differentiation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
UQCC6 Geneubiquinol-cytochrome c reductase complex assembly factor 6 Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DHFR2 Genedihydrofolate reductase 2 Enables dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025] |
DHFRP3 Genedihydrofolate reductase pseudogene 3 |
AKR1C8 Genealdo-keto reductase family 1 member C8 Predicted to enable aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in prostaglandin biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
UQCC5 Geneubiquinol-cytochrome c reductase complex assembly factor 5 Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025] |
7-Dehydrocholesterol Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 7-Dehydrocholesterol Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
2,4-Dienoyl-CoA reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Cortisone reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
NADH cytochrome B5 reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
2,4-Dienoyl-CoA Reductase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset. |
methylenetetrahydrofolate reductase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease methylenetetrahydrofolate reductase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?2,4-dienoyl-coa reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?2,4-dienoyl-coa reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia due to glutathione reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortisone reductase deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortisone reductase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cortisone reductase deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cortisone reductase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
5,10-Methylenetetrahydrofolate Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 5,10-Methylenetetrahydrofolate Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Reductase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Reductase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh Cytochrome B5 Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh Cytochrome B5 Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
5-Alpha Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 5-Alpha Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh-Cytochrome B5 Reductase Deficiency, Type I Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh-Cytochrome B5 Reductase Deficiency, Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nadh-Cytochrome B5 Reductase Deficiency, Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cortisone Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cortisone Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2,4-Dienoyl-Coa Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2,4-Dienoyl-Coa Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Dihydrofolate Reductase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Dihydrofolate Reductase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Succinate-Coenzyme Q Reductase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Succinate-Coenzyme Q Reductase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sepiapterin reductase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Cortisone reductase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cortisone reductase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sepiapterin reductase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sepiapterin reductase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cortisone reductase deficiency 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cortisone reductase deficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Deficiency of cytochrome-b5 reductase Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Deficiency of cytochrome-b5 reductase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cortisone reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cortisone reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hemolytic anemia due to glutathione reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatty acyl-CoA reductase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatty acyl-CoA reductase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peroxisomal fatty acyl-coa reductase 1 disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peroxisomal fatty acyl-coa reductase 1 disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fumarate reductase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the fumarate reductase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the ribonucleoside-diphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
glycine reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the glycine reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
nitrate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the nitrate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Hydroxymethylglutaryl-CoA Reductase Inhibitors Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical Hydroxymethylglutaryl-CoA Reductase Inhibitors from the curated CTD Gene-Chemical Interactions dataset. |
carbonyl reductase 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbonyl reductase 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hmg-coa reductase inhibitors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hmg-coa reductase inhibitors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
reductase Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term reductase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
gmp reductase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the gmp reductase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
fumarate reductase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the fumarate reductase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
carbonyl reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the carbonyl reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
arsenate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the arsenate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
riboflavin reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the riboflavin reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph-adrenodoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph-adrenodoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferredoxin-nadp+ reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferredoxin-nadp+ reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sepiapterin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sepiapterin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-keto sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-keto sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gdp-4-dehydro-d-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gdp-4-dehydro-d-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
prostaglandin-e2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the prostaglandin-e2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
trans-2-enoyl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the trans-2-enoyl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cholestenone 5-alpha-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cholestenone 5-alpha-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide-methionine (r)-s-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide-methionine (r)-s-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
iron-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the iron-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
mercury (ii) reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the mercury (ii) reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cupric reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cupric reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
[methionine synthase] reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the [methionine synthase] reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
2-alkenal reductase [nad(p)] activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 2-alkenal reductase [nad(p)] activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cytochrome-b5 reductase activity, acting on nad(p)h Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cytochrome-b5 reductase activity, acting on nad(p)h molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferric-chelate reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferric-chelate reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-xylulose reductase (nadp+) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-xylulose reductase (nadp+) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aldo-keto reductase (nadp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aldo-keto reductase (nadp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glyoxylate reductase (nadp) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glyoxylate reductase (nadp) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
geranylgeranyl reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the geranylgeranyl reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutathione-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutathione-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
gmp reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the gmp reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
long-chain-fatty-acyl-coa reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the long-chain-fatty-acyl-coa reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
[hydroxymethylglutaryl-coa reductase (nadph)] kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the [hydroxymethylglutaryl-coa reductase (nadph)] kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
1,5-anhydro-d-fructose reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 1,5-anhydro-d-fructose reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide-methionine (s)-s-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide-methionine (s)-s-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
2,4-dienoyl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 2,4-dienoyl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
thioredoxin-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the thioredoxin-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ubiquinol-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methylenetetrahydrofolate reductase (nad(p)h) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methylenetetrahydrofolate reductase (nad(p)h) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methylarsonate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methylarsonate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
biliverdin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the biliverdin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
13-prostaglandin reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 13-prostaglandin reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
methionine-r-sulfoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the methionine-r-sulfoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
fatty-acyl-coa reductase (alcohol-forming) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the fatty-acyl-coa reductase (alcohol-forming) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
vitamin-k-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the vitamin-k-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
diiodophenylpyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the diiodophenylpyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
sterol 5-alpha reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the sterol 5-alpha reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxymethylglutaryl-coa reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxymethylglutaryl-coa reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
nadph:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the nadph:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
aquacobalamin reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the aquacobalamin reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxypyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxypyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alkyl hydroperoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alkyl hydroperoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
hydroxymethylglutaryl-coa reductase (nadph) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the hydroxymethylglutaryl-coa reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein-disulfide reductase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein-disulfide reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biliverdin reductase, catalytic Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biliverdin reductase, catalytic protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Flavoprotein pyridine nucleotide cytochrome reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Flavoprotein pyridine nucleotide cytochrome reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase R1 subunit, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase R1 subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase-related Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADH-ubiquinone reductase complex 1 MLRQ subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone reductase complex 1 MLRQ subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Biliverdin reductase A Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Biliverdin reductase A protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma-glutamyl phosphate reductase GPR Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-glutamyl phosphate reductase GPR protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome b561/ferric reductase transmembrane Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b561/ferric reductase transmembrane protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADPH-cytochrome P450 reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADPH-cytochrome P450 reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, eukaryotic/arcaheal type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, eukaryotic/arcaheal type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Protein-tyrosine phosphatase/arsenate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein-tyrosine phosphatase/arsenate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Thioredoxin/glutathione reductase selenoprotein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Thioredoxin/glutathione reductase selenoprotein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Guanosine monophosphate reductase 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanosine monophosphate reductase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Methylenetetrahydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Methylenetetrahydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/Fumarate reductase, transmembrane subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/Fumarate reductase, transmembrane subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
dTDP-4-dehydrorhamnose reductase family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the dTDP-4-dehydrorhamnose reductase family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferredoxin-NADP+ reductase, adrenodoxin-type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferredoxin-NADP+ reductase, adrenodoxin-type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma interferon inducible lysosomal thiol reductase GILT Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma interferon inducible lysosomal thiol reductase GILT protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome b reductase 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b reductase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol cytochrome reductase, transmembrane domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol cytochrome reductase, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome C reductase hinge domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome C reductase hinge domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferric reductase, NAD binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferric reductase, NAD binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dehydrogenase/reductase SDR member 4-like Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dehydrogenase/reductase SDR member 4-like protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase, class I , alpha subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase, class I , alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulphoxide reductase MsrA Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulphoxide reductase MsrA protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase, flavoprotein subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Gamma-glutamyl phosphate reductase GPR, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-glutamyl phosphate reductase GPR, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
IMP dehydrogenase/GMP reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the IMP dehydrogenase/GMP reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydogenase/fumarate reductase N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydogenase/fumarate reductase N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase small subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase large subunit, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase large subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dehydrogenase/reductase SDR member 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dehydrogenase/reductase SDR member 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome c reductase, iron-sulphur subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome c reductase, iron-sulphur subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
FAD/NAD-linked reductase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the FAD/NAD-linked reductase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Succinate dehydrogenase/fumarate reductase iron-sulphur protein Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase iron-sulphur protein protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fumarate reductase/succinate dehydrogenase, FAD-binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fumarate reductase/succinate dehydrogenase, FAD-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase subgroup Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADH:cytochrome b5 reductase (CBR) Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:cytochrome b5 reductase (CBR) protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Eukaryotic-type methylenetetrahydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic-type methylenetetrahydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulphoxide reductase MrsB Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulphoxide reductase MrsB protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Cytochrome cd1-nitrite reductase-like, haem d1 domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome cd1-nitrite reductase-like, haem d1 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
IMP dehydrogenase / GMP reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the IMP dehydrogenase / GMP reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, metazoan Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, metazoan protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Sepiapterin reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sepiapterin reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Short-chain dehydrogenase/reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short-chain dehydrogenase/reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Pyrroline-5-carboxylate reductase, catalytic, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyrroline-5-carboxylate reductase, catalytic, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Vitamin K epoxide reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Vitamin K epoxide reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferredoxin reductase-type FAD-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferredoxin reductase-type FAD-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aldo/keto reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aldo/keto reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ferric reductase transmembrane component-like domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ferric reductase transmembrane component-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phosphoadenosine phosphosulphate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphoadenosine phosphosulphate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutathione reductase, eukaryote/bacterial Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutathione reductase, eukaryote/bacterial protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Short-chain dehydrogenase/reductase SDR Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short-chain dehydrogenase/reductase SDR protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Peptide methionine sulfoxide reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptide methionine sulfoxide reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Sterol reductase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Sterol reductase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fatty acyl-CoA reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fatty acyl-CoA reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Leukotriene B4 12-hydroxydehydrogenase/15-oxo-prostaglandin 13-reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Nitrous oxide reductase, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nitrous oxide reductase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Dihydrofolate reductase conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Dihydrofolate reductase conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Phenol hydroxylase reductase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenol hydroxylase reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Reductase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Reductase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Hydroxymethylglutaryl-CoA reductase, class I/II Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Hydroxymethylglutaryl-CoA reductase, class I/II protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ubiquinol-cytochrome c reductase 8kDa, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome c reductase 8kDa, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ribonucleotide reductase large subunit, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase large subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
peroxisomal fatty acyl-coa reductase 1 disorder Gene SetFrom OMIM Gene-Disease Associations genes associated with the peroxisomal fatty acyl-coa reductase 1 disorder phenotype from the curated OMIM Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Gene Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Methylenetetrahydrofolate Reductase Polymorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Methylenetetrahydrofolate Reductase Polymorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
positive regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of pyrroline-5-carboxylate reductase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of pyrroline-5-carboxylate reductase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
nitrite reductase (NO-forming) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrite reductase (NO-forming) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
aldo-keto reductase (NADP) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aldo-keto reductase (NADP) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
carbonyl reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the carbonyl reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cytochrome-b5 reductase activity, acting on NAD(P)H Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cytochrome-b5 reductase activity, acting on NAD(P)H molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein-disulfide reductase (NAD(P)) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein-disulfide reductase (NAD(P)) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
hydroxymethylglutaryl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the hydroxymethylglutaryl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitroglycerin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitroglycerin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ubiquinol-cytochrome-c reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glucuronolactone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glucuronolactone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
prostaglandin-E2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the prostaglandin-E2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferredoxin-NADP+ reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferredoxin-NADP+ reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ribonucleoside-diphosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ribonucleoside-diphosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biliverdin reductase (NAD(P)+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biliverdin reductase (NAD(P)+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
riboflavin reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the riboflavin reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alkyl hydroperoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alkyl hydroperoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sterol 5-alpha reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sterol 5-alpha reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sepiapterin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sepiapterin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
GMP reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the GMP reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
prostaglandin H2 endoperoxidase reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the prostaglandin H2 endoperoxidase reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
methylenetetrahydrofolate reductase (NAD(P)H) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the methylenetetrahydrofolate reductase (NAD(P)H) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
biliberdin reductase NAD+ activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the biliberdin reductase NAD+ activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-keto sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-keto sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
GDP-4-dehydro-D-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the GDP-4-dehydro-D-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-alkenal reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-alkenal reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
13-prostaglandin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 13-prostaglandin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
13-lipoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 13-lipoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2,4-dienoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2,4-dienoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
long-chain-fatty-acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the long-chain-fatty-acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrite reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the nitrite reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferric-chelate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferric-chelate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
acylglycerone-phosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the acylglycerone-phosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
17-beta-ketosteroid reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 17-beta-ketosteroid reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-xylulose reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-xylulose reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
folate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the folate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peptide-methionine (R)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peptide-methionine (R)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
vitamin-K-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the vitamin-K-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
alcohol-forming very long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the alcohol-forming very long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
vitamin-K-epoxide reductase (warfarin-insensitive) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the vitamin-K-epoxide reductase (warfarin-insensitive) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
trans-2-enoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the trans-2-enoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
very-long-chain enoyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the very-long-chain enoyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
[methionine synthase] reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the [methionine synthase] reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
hydroxypyruvate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the hydroxypyruvate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glyoxylate reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glyoxylate reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peptide-methionine (S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peptide-methionine (S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cyanocobalamin reductase (cyanide-eliminating) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cyanocobalamin reductase (cyanide-eliminating) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-methionine-(S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-methionine-(S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cupric reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cupric reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
methionine-R-sulfoxide reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the methionine-R-sulfoxide reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
sterol delta7 reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the sterol delta7 reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NADPH-adrenodoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NADPH-adrenodoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferredoxin-NAD(P) reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferredoxin-NAD(P) reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
2-alkenal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 2-alkenal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glyoxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glyoxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
nitrite reductase (NO-forming) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrite reductase (NO-forming) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aldose reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aldose reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aldo-keto reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aldo-keto reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
carbonyl reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the carbonyl reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta14-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta14-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADPH:quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADPH:quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-disulfide reductase (glutathione) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-disulfide reductase (glutathione) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dihydrofolate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dihydrofolate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cytochrome-b5 reductase activity, acting on NAD(P)H Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cytochrome-b5 reductase activity, acting on NAD(P)H molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-disulfide reductase [NAD(P)H] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-disulfide reductase [NAD(P)H] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
nitrite reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrite reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxymethylglutaryl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxymethylglutaryl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
6,7-dihydropteridine reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 6,7-dihydropteridine reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-glucuronate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-glucuronate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glucuronolactone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glucuronolactone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADH:ubiquinone reductase (non-electrogenic) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADH:ubiquinone reductase (non-electrogenic) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dihydronicotinamide riboside quinone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dihydronicotinamide riboside quinone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
prostaglandin E2 9-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the prostaglandin E2 9-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NADPH-hemoprotein reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NADPH-hemoprotein reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chlordecone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chlordecone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferredoxin-NADP+ reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferredoxin-NADP+ reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ribonucleoside-diphosphate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biliverdin reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biliverdin reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
riboflavin reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the riboflavin reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
pyrroline-5-carboxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the pyrroline-5-carboxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
sepiapterin reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the sepiapterin reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
GMP reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the GMP reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
prostaglandin H2 endoperoxidase reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the prostaglandin H2 endoperoxidase reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta4-3-oxosteroid 5beta-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta4-3-oxosteroid 5beta-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
methylenetetrahydrofolate reductase (NAD(P)H) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the methylenetetrahydrofolate reductase (NAD(P)H) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
biliberdin reductase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the biliberdin reductase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-dehydrosphinganine reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-dehydrosphinganine reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
GDP-4-dehydro-D-rhamnose reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the GDP-4-dehydro-D-rhamnose reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2-alkenal reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2-alkenal reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
13-lipoxin reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 13-lipoxin reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta24(24-1) sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta24(24-1) sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Delta24-sterol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the Delta24-sterol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2,4-dienoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2,4-dienoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
very-long-chain 3-oxoacyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the very-long-chain 3-oxoacyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
nitrate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the nitrate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferric-chelate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferric-chelate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
acylglycerone-phosphate reductase (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the acylglycerone-phosphate reductase (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
all-trans-retinol 13,14-reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the all-trans-retinol 13,14-reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-xylulose reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-xylulose reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
folate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the folate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
peptide-methionine (R)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the peptide-methionine (R)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
vitamin-K-epoxide reductase (warfarin-sensitive) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the vitamin-K-epoxide reductase (warfarin-sensitive) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
dolichal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the dolichal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alcohol-forming long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alcohol-forming long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
alcohol-forming very long-chain fatty acyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the alcohol-forming very long-chain fatty acyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
vitamin-K-epoxide reductase (warfarin-insensitive) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the vitamin-K-epoxide reductase (warfarin-insensitive) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enoyl-[acyl-carrier-protein] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enoyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
trans-2-enoyl-CoA reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the trans-2-enoyl-CoA reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
polyprenal reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the polyprenal reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
arsenate reductase (glutaredoxin) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the arsenate reductase (glutaredoxin) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
very-long-chain enoyl-CoA reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the very-long-chain enoyl-CoA reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
[methionine synthase] reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the [methionine synthase] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxypyruvate reductase (NADH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxypyruvate reductase (NADH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
hydroxypyruvate reductase [NAD(P)H] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the hydroxypyruvate reductase [NAD(P)H] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glyoxylate reductase (NADPH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glyoxylate reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
peptide-methionine (S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the peptide-methionine (S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ADP-ribosyl-[dinitrogen reductase] hydrolase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ADP-ribosyl-[dinitrogen reductase] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
polyprenol reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the polyprenol reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cupric reductase (NADH) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cupric reductase (NADH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-methionine-(S)-S-oxide reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-methionine-(S)-S-oxide reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferredoxin-[NAD(P)H] reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferredoxin-[NAD(P)H] reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enone reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enone reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
2-alkenal reductase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 2-alkenal reductase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ferric-chelate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ferric-chelate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) Gene SetFrom GO Molecular Function Annotations 2025 genes performing the enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glyoxylate reductase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glyoxylate reductase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the ribonucleoside-diphosphate reductase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
ribonucleoside-diphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the ribonucleoside-diphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Nitrate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Nitrate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
thioredoxin-disulfide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the thioredoxin-disulfide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
GMP reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the GMP reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
pyrroline-5-carboxylate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the pyrroline-5-carboxylate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Methyl coenzyme M reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Methyl coenzyme M reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
trimethylamine-N-oxide reductase (cytochrome c) complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the trimethylamine-N-oxide reductase (cytochrome c) complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Dimethyl sulfoxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Dimethyl sulfoxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Plasma membrane fumarate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plasma membrane fumarate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
trimethylamine-N-oxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the trimethylamine-N-oxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glycine reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glycine reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
ferredoxin-thioredoxin reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the ferredoxin-thioredoxin reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
CoB-CoM heterodisulfide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the CoB-CoM heterodisulfide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Alkyl hydroperoxide reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Alkyl hydroperoxide reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Anaerobic ribonucleoside-triphosphate reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Anaerobic ribonucleoside-triphosphate reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
FMN reductase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the FMN reductase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Sulfite reductase complex (NADPH) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Sulfite reductase complex (NADPH) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Hmg coa reductase inhibitors response - Toxicity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hmg coa reductase inhibitors response - Toxicity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Medication use (HMG CoA reductase inhibitors) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Medication use (HMG CoA reductase inhibitors) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HMG-COA REDUCTASE INHIBITOR Gene Setinteracting proteins for the HMG-COA REDUCTASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoglycemia with deficiency of glycogen synthetase in the liver Gene SetFrom 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. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ganglioside sialidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet glycoprotein IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-acetylaspartate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor II deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, a subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosteroid-binding globulin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holocarboxylase synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerate kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of galactokinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Purine-nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antithrombin III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anaphylotoxin inactivator deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cytochrome-c oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte amp deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor VII deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Apolipoprotein a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-aminobutyric acid transaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myeloperoxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Very long chain acyl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IRAK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginine:glycine amidinotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator protein 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mannose-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myd88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fructose-biphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proline dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerol kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of xanthine oxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urocanate hydratase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvate dioxygenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, b subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prolidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of guanidinoacetate methyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glycoprotein IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte Adhesion Deficiency, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset. |
Prekallikrein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XI Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine palmitoyl transferase 1A deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Tyrosine Kinase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Proopiomelanocortin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Intrinsic Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenosine monophosphate deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Deficiency, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset. |
IgA Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
DNA Repair-Deficiency Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Lecithin Acyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Neuraminidase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Folic Acid Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Vitamin B 12 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine-Acylcarnitine Translocase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset. |
Flaujeac factor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset. |
Ribose 5-Phosphate Isomerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor 8 deficiency, acquired Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Thiopurine S methyltranferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset. |
Vitamin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Molybdenum cofactor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Kinase 1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin D Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor V Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase Deficiency Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset. |
Dimethylglycine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset. |
Trehalase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Aminoacylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Antithrombin III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset. |
17-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Heparin Cofactor II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset. |
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Arginine:Glycine Amidinotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Biotinidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Methionine Adenosyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycine N-Methyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Magnesium Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset. |
2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor Xiii, A Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset. |
Isobutyryl-CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Corticosteroid-Binding Globulin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset. |
ACTH Deficiency, Isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset. |
Factor XIII, B Subunit, Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset. |
GLUT1 DEFICIENCY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Iron-Refractory Iron Deficiency Anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset. |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Specific Granule Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset. |
Insulin-Like Growth Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement component 5 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lactate dehydrogenase deficiency type A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Peroxisomal ACYL-COA oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
3b-Hydroxysteroid Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Thiamine Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiamine Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex II Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Systemic carnitine deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma-cystathionase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset. |
Combined Saposin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Radial Ray Deficiency, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Beta-Ureidopropionase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset. |
Protein C Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Carboxypeptidase N Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset. |
Purine Nucleoside Phosphorylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Component 4, Partial Deficiency Of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset. |
Familial Glucocorticoid Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Endplate Acetylcholinesterase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XIII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset. |
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Fructose-1,6-Diphosphatase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset. |
MASP2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Alpha-ketoglutarate dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor H Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset. |
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 2 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
TRANSCOBALAMIN II DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prolidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte-Adhesion Deficiency Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset. |
Dihydropyrimidinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Deficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Vitamin E Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Infantile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset. |
CD59 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myeloperoxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myeloperoxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonyl-CoA Epimerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mevalonate Kinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Complement Factor I Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset. |
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Cytochrome-c Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Hyaluronidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyaluronidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Sulfatase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Lysosomal beta-mannosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Medium chain acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial apoceruloplasmin deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Sulfite oxidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Kinase Deficiency of Red Cells Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset. |
Factor VII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
IRAK4 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Butyrylcholinesterase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Butyrylcholinesterase deficiency from the curated CTD Gene-Disease Associations dataset. |
Short chain Acyl CoA dehydrogenase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset. |
Gamma aminobutyric acid transaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Carboxylase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Complement Component 6 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XII Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Urocanase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoserine Aminotransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset. |
Immunoglobulin a deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Immunoglobulin a deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Glucosephosphate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset. |
Split-hand/foot malformation with long bone deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset. |
Immunologic Deficiency Syndromes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset. |
protein s deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
systemic primary carnitine deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
purine nucleoside phosphorylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
alpha 1-antitrypsin deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
holocarboxylase synthetase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
gamma chain deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
pyruvate decarboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
serine deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cerebral creatine deficiency syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
complement deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
agat deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
prothrombin deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease prothrombin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
complement factor i deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
glucosephosphate dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glucosephosphate dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
protein c deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease protein c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
dihydropyrimidine dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease dihydropyrimidine dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
biotinidase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease biotinidase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
beta-ketothiolase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease beta-ketothiolase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ornithine carbamoyltransferase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine carbamoyltransferase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
factor v deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease factor v deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ornithine translocase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ornithine translocase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cd40 ligand deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
b cell deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease b cell deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
3-methylcrotonyl-coa carboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
phgdh deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease phgdh deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
succinic semialdehyde dehydrogenase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
adenosine deaminase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease adenosine deaminase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
antithrombin iii deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease antithrombin iii deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
cytochrome-c oxidase deficiency disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
multiple carboxylase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
iron deficiency anemia Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease iron deficiency anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
nutritional deficiency disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease nutritional deficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
choline deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease choline deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mhc class ii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mhc class ii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
t lymphocyte deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease t lymphocyte deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leukocyte-adhesion deficiency syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte-adhesion deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
complement deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
urethral intrinsic sphincter deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease urethral intrinsic sphincter deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital intrinsic factor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
folic acid deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fructose-1,6-bisphosphatase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fructose-1,6-bisphosphatase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
coenzyme q10 deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease coenzyme q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pyruvate decarboxylase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
psat deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease psat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carbamoyl phosphate synthetase i deficiency disease Gene SetFrom DISEASES Text-mining Gene-Disease Association 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. |
leukocyte adhesion deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leukocyte adhesion deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
adenosine deaminase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease adenosine deaminase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
antithrombin iii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease antithrombin iii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
factor xiii deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease factor xiii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
b cell linker protein deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease b cell linker protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd3delta deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd3delta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
iron deficiency anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
protein s deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease protein s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
gamma chain deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease gamma chain deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
immunoglobulin alpha deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
intestinal disaccharidase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease intestinal disaccharidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
artemis deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease artemis deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd40 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
agat deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease agat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dna ligase iv deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dna ligase iv deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cd45 deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cd45 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |