Name

CTD Gene-Disease Associations Dataset

From Comparative Toxicogenomics Database

disease-gene interactions curated from literature

DISEASES Curated Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by manual literature curation

DISEASES Experimental Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by integrating experimental data (GWAS)

DISEASES Text-mining Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

gene-disease co-occurrence scores from text-mining biomedical abstracts

GAD Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

GAD High Level Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

GEO Signatures of Differentially Expressed Genes for Diseases Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following disease perturbation

GWASdb SNP-Disease Associations Dataset

From GWASdb

SNP-disease association p-values curated from published GWAS

HPO Gene-Disease Associations Dataset

From Human Phenotype Ontology

phenotype-causing gene mutations of human phenotypes from disease knowledgebases

OMIM Gene-Disease Associations Dataset

From Online Mendelian Inheritance in Man

disease- or phenotype-causing gene mutations for heritable human diseases or phenotypes curated from biomedical publications

PhosphoSitePlus Phosphosite-Disease Associations Dataset

From PhosphoSitePlus

disease-phosphosite associations curated from literature

CPS1 Gene

carbamoyl-phosphate synthase 1, mitochondrial

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

CAD Gene

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

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

MMAA Gene

methylmalonic aciduria (cobalamin deficiency) cblA type

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MMAB Gene

methylmalonic aciduria (cobalamin deficiency) cblB type

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

SHFLD3 Gene

Split-hand/foot malformation with long bone deficiency 3

GCCD2 Gene

Glucocorticoid deficiency 2

GCCD3 Gene

glucocorticoid deficiency 3

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

MMACHC Gene

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

SHFLD2 Gene

Split-hand/foot malformation with long deficiency 2

MMADHC Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

AGMX2 Gene

agammaglobulinemia, X-linked 2 (with growth hormone deficiency)

RRDX Gene

Radial ray deficiency

MCFD2P1 Gene

multiple coagulation factor deficiency 2 pseudogene 1

SHFL1 Gene

Split-hand/foot malformation with long bone deficiency 1

LOC100216356 Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

LOC100216355 Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

CANDN1 Gene

candidiasis, nail 1 (with ICAM1 deficiency)

MCFD2 Gene

multiple coagulation factor deficiency 2

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

NKCD Gene

Natural killer cell deficiency, familial isolated

AGPS Gene

alkylglycerone phosphate synthase

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

ISYNA1 Gene

inositol-3-phosphate synthase 1

This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

LOC645433 Gene

inositol-3-phosphate synthase 1 pseudogene

PTGS2 Gene

prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)

Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]

PTGS1 Gene

prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)

This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC100421321 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

SLC25A3P2 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2

DNPH1 Gene

2'-deoxynucleoside 5'-phosphate N-hydrolase 1

This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]

LOC100421253 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421244 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

GAPDHP39 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 39

GAPDHP38 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 38

GAPDHP31 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 31

GAPDHP30 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 30

GAPDHP33 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 33

GAPDHP32 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 32

GAPDHP35 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 35

GAPDHP34 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 34

GAPDHP37 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 37

GAPDHP36 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 36

LOC100421247 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421243 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

ALG5 Gene

ALG5, dolichyl-phosphate beta-glucosyltransferase

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

RPEP2 Gene

ribulose-5-phosphate-3-epimerase pseudogene 2

RPEP3 Gene

ribulose-5-phosphate-3-epimerase pseudogene 3

RPEP1 Gene

ribulose-5-phosphate-3-epimerase pseudogene 1

RPEP6 Gene

ribulose-5-phosphate-3-epimerase pseudogene 6

RPEP4 Gene

ribulose-5-phosphate-3-epimerase pseudogene 4

H6PD Gene

hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

LOC100421100 Gene

RNA terminal phosphate cyclase-like 1 pseudogene

SLC37A1 Gene

solute carrier family 37 (glucose-6-phosphate transporter), member 1

SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM, Jul 2004]

MRI1 Gene

methylthioribose-1-phosphate isomerase 1

PNPO Gene

pyridoxamine 5'-phosphate oxidase

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

SLC25A3P3 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene

SLC25A3P1 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1

SGPL1 Gene

sphingosine-1-phosphate lyase 1

DPM3 Gene

dolichyl-phosphate mannosyltransferase polypeptide 3

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

DPM2 Gene

dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

DPM1 Gene

dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq, Jul 2008]

GAPDHP2 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 2

GAPDHP1 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 1

LOC100421256 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421251 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

PCYT2 Gene

phosphate cytidylyltransferase 2, ethanolamine

This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

ETNPPL Gene

ethanolamine-phosphate phospho-lyase

LOC100421304 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

GAPDHP55 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 55

GAPDHP54 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 54

GAPDHP53 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 53

GAPDHP52 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 52

GAPDHP51 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 51

GAPDHP50 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 50

RPIA Gene

ribose 5-phosphate isomerase A

The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

PIP4K2A Gene

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

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

PIP4K2C Gene

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

PIP4K2B Gene

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

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

GPAM Gene

glycerol-3-phosphate acyltransferase, mitochondrial

This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

PCYT1A Gene

phosphate cytidylyltransferase 1, choline, alpha

PCYT1B Gene

phosphate cytidylyltransferase 1, choline, beta

The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

PIK3C2B Gene

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

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

PIK3C2A Gene

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

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

PIK3C2G Gene

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

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

PIP5K1P1 Gene

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

PIP5K1P2 Gene

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

GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

GAPDHP76 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 76

GAPDHP57 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 57

AGPAT6 Gene

1-acylglycerol-3-phosphate O-acyltransferase 6

Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]

AGPAT5 Gene

1-acylglycerol-3-phosphate O-acyltransferase 5

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]

AGPAT4 Gene

1-acylglycerol-3-phosphate O-acyltransferase 4

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]

AGPAT3 Gene

1-acylglycerol-3-phosphate O-acyltransferase 3

The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

AGPAT2 Gene

1-acylglycerol-3-phosphate O-acyltransferase 2

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AGPAT1 Gene

1-acylglycerol-3-phosphate O-acyltransferase 1

This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

AGPAT9 Gene

1-acylglycerol-3-phosphate O-acyltransferase 9

This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]

SLC34A1 Gene

solute carrier family 34 (type II sodium/phosphate cotransporter), member 1

This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SLC34A3 Gene

solute carrier family 34 (type II sodium/phosphate cotransporter), member 3

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

SLC34A2 Gene

solute carrier family 34 (type II sodium/phosphate cotransporter), member 2

The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]

M6PR Gene

mannose-6-phosphate receptor (cation dependent)

This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]

CPTP Gene

ceramide-1-phosphate transfer protein

RPIAP1 Gene

ribose 5-phosphate isomerase A pseudogene 1

GAPDHP26 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 26

GAPDHP25 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 25

GAPDHP22 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 22

GAPDHP23 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 23

GAPDHP20 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 20

GAPDHP21 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 21

GAPDHP29 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 29

RPE Gene

ribulose-5-phosphate-3-epimerase

SLC25A23 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23

SLC25A24 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SLC25A25 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25

The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]

GPD1 Gene

glycerol-3-phosphate dehydrogenase 1 (soluble)

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

GPD2 Gene

glycerol-3-phosphate dehydrogenase 2 (mitochondrial)

The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]

LOC100421409 Gene

glucosamine-phosphate N-acetyltransferase 1 pseudogene

GALT Gene

galactose-1-phosphate uridylyltransferase

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GAPDHP24 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 24

GAPDHP28 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 28

GAPDHP68 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 68

GPAT2 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial

LOC100131200 Gene

mannose-6-phosphate receptor (cation dependent) pseudogene

RPEL1 Gene

ribulose-5-phosphate-3-epimerase-like 1

LOC653924 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial pseudogene

MPI Gene

mannose phosphate isomerase

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GNPNAT1 Gene

glucosamine-phosphate N-acetyltransferase 1

SLC37A2 Gene

solute carrier family 37 (glucose-6-phosphate transporter), member 2

SLC37A4 Gene

solute carrier family 37 (glucose-6-phosphate transporter), member 4

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

PHEX Gene

phosphate regulating endopeptidase homolog, X-linked

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GNPTG Gene

N-acetylglucosamine-1-phosphate transferase, gamma subunit

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

AGPAT5P1 Gene

1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1

GPD1L Gene

glycerol-3-phosphate dehydrogenase 1-like

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]

GAPDHP75 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 75

GAPDHP74 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 74

GAPDHP71 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 71

GAPDHP70 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 70

GAPDHP73 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 73

GAPDHP72 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 72

G6PD Gene

glucose-6-phosphate dehydrogenase

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GAPDH Gene

glyceraldehyde-3-phosphate dehydrogenase

This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

LPPR3 Gene

lipid phosphate phosphatase-related protein type 3

The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]

GAPDHP65 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 65

GPI Gene

glucose-6-phosphate isomerase

This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phophsate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GFPT1 Gene

glutamine--fructose-6-phosphate transaminase 1

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

GFPT2 Gene

glutamine-fructose-6-phosphate transaminase 2

HPBP Gene

phosphate binding apolipoprotein

LOC401767 Gene

1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) pseudogene

LOC100421317 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421314 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

SLC20A2 Gene

solute carrier family 20 (phosphate transporter), member 2

This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

SLC20A1 Gene

solute carrier family 20 (phosphate transporter), member 1

The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]

LOC729999 Gene

glycerol-3-phosphate dehydrogenase 2 (mitochondrial) pseudogene

LOC100423044 Gene

solute carrier family 34 (type II sodium/phosphate cotransporter), member 2 pseudogene

SLC20A1P1 Gene

solute carrier family 20 (phosphate transporter), member 1 pseudogene 1

SLC20A1P3 Gene

solute carrier family 20 (phosphate transporter), member 1 pseudogene 3

SLC20A1P2 Gene

solute carrier family 20 (phosphate transporter), member 1 pseudogene 2

SGPP2 Gene

sphingosine-1-phosphate phosphatase 2

Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP2 catalyzes the degradation of S1P (Ogawa et al., 2003 [PubMed 12411432]).[supplied by OMIM, Jun 2009]

SGPP1 Gene

sphingosine-1-phosphate phosphatase 1

Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]

LOC100421261 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421264 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100420790 Gene

glucosamine-6-phosphate deaminase 2 pseudogene

GAPDHP48 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 48

GAPDHP49 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 49

GAPDHP44 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 44

GAPDHP45 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 45

GAPDHP46 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 46

GAPDHP47 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 47

GAPDHP40 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 40

GAPDHP41 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 41

GAPDHP42 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 42

GAPDHP43 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 43

SLC25A3 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

DPAGT1 Gene

dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

RCL1 Gene

RNA terminal phosphate cyclase-like 1

LPPR5 Gene

lipid phosphate phosphatase-related protein type 5

The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LPPR4 Gene

lipid phosphate phosphatase-related protein type 4

The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

LPPR2 Gene

lipid phosphate phosphatase-related protein type 2

LPPR1 Gene

lipid phosphate phosphatase-related protein type 1

This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

PIP5KL1 Gene

phosphatidylinositol-4-phosphate 5-kinase-like 1

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

GAPDHP17 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 17

GAPDHP16 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 16

GAPDHP14 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 14

GAPDHP19 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 19

RTCB Gene

RNA 2',3'-cyclic phosphate and 5'-OH ligase

RTCA Gene

RNA 3'-terminal phosphate cyclase

This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

GAPDHP59 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 59

GAPDHP58 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 58

GAPDHP56 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 56

GAPDHS Gene

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]

FPGT Gene

fucose-1-phosphate guanylyltransferase

L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]

S1PR3 Gene

sphingosine-1-phosphate receptor 3

This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]

S1PR2 Gene

sphingosine-1-phosphate receptor 2

This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation [provided by RefSeq, Jul 2008]

S1PR1 Gene

sphingosine-1-phosphate receptor 1

The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. [provided by RefSeq, Jul 2008]

S1PR5 Gene

sphingosine-1-phosphate receptor 5

The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]

S1PR4 Gene

sphingosine-1-phosphate receptor 4

This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]

LOC100421335 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

GAPDHP15 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 15

DERA Gene

deoxyribose-phosphate aldolase (putative)

GNPDA2 Gene

glucosamine-6-phosphate deaminase 2

The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

GNPDA1 Gene

glucosamine-6-phosphate deaminase 1

Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]

GAPDHP62 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 62

GAPDHP63 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 63

GAPDHP60 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 60

GAPDHP61 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 61

GAPDHP66 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 66

GAPDHP67 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 67

GAPDHP64 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene 64

GAPDHP69 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 69

LOC100133147 Gene

glucosamine-phosphate N-acetyltransferase 1 pseudogene

LOC100421322 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC643219 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial pseudogene

GAPDHP27 Gene

glyceraldehyde 3 phosphate dehydrogenase pseudogene 27

LOC100421265 Gene

glyceraldehyde-3-phosphate dehydrogenase pseudogene

LOC100421444 Gene

glucosamine-phosphate N-acetyltransferase 1 pseudogene

PIP5K1C Gene

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

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

PIP5K1B Gene

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

PIP5K1A Gene

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

ATP5C1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

PDSS2 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 2

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

PDSS1 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1

The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]

TGS1 Gene

trimethylguanosine synthase 1

ADSS Gene

adenylosuccinate synthase

This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]

HPGDS Gene

hematopoietic prostaglandin D synthase

Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]

PTS-P1 Gene

6-pyruvoyltetrahydropterin synthase pseudogene

LOC100420851 Gene

nitric oxide synthase 2, inducible pseudogene

HMBS Gene

hydroxymethylbilane synthase

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

LOC642590 Gene

spermine synthase pseudogene

ATP5L2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2

LOC100127892 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene

ILVBL Gene

ilvB (bacterial acetolactate synthase)-like

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

NUS1P4 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4

NUS1P1 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1

NUS1P3 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3

NUS1P2 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2

PTDSS1 Gene

phosphatidylserine synthase 1

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

PTDSS2 Gene

phosphatidylserine synthase 2

Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS2, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM, May 2009]

LOC100418973 Gene

citrate synthase pseudogene

CHSY3 Gene

chondroitin sulfate synthase 3

CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]

CHSY1 Gene

chondroitin sulfate synthase 1

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

THNSL2 Gene

threonine synthase-like 2 (S. cerevisiae)

This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

THNSL1 Gene

threonine synthase-like 1 (S. cerevisiae)

ADSSL1 Gene

adenylosuccinate synthase like 1

ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008]

LOC100289091 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 pseudogene

ATP5BP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1

NOSIP Gene

nitric oxide synthase interacting protein

The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]

NUS1 Gene

nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)

LOC101929583 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

FASN Gene

fatty acid synthase

The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]

HMGCS1 Gene

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)

HMGCS2 Gene

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

PTGES3 Gene

prostaglandin E synthase 3 (cytosolic)

PTGES2 Gene

prostaglandin E synthase 2

The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]

PDSS1P1 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 1

PDSS1P2 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2

OXSM Gene

3-oxoacyl-ACP synthase, mitochondrial

This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

ATP5J2LP Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene

PGS1 Gene

phosphatidylglycerophosphate synthase 1

PTGIS Gene

prostaglandin I2 (prostacyclin) synthase

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]

LOC100288416 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene

DHDDS Gene

dehydrodolichyl diphosphate synthase

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

LOC101928296 Gene

ATP synthase-coupling factor 6, mitochondrial-like

CERS6 Gene

ceramide synthase 6

CERS4 Gene

ceramide synthase 4

CERS5 Gene

ceramide synthase 5

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CERS2 Gene

ceramide synthase 2

This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

CERS3 Gene

ceramide synthase 3

CERS1 Gene

ceramide synthase 1

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2008]

ACCSL Gene

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

LOC100420897 Gene

5'-aminolevulinate synthase 1 pseudogene

ATP5JP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1

ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

NANS Gene

N-acetylneuraminic acid synthase

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

GGPS1 Gene

geranylgeranyl diphosphate synthase 1

This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

ALAS1 Gene

5'-aminolevulinate synthase 1

This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

ALAS2 Gene

5'-aminolevulinate synthase 2

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DHPS Gene

deoxyhypusine synthase

This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]

ATP5J2P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6

ATP5J2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4

ATP5J2P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5

ATP5J2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2

ATP5J2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3

ATP5S Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP5J Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010]

ATP5I Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ATP5H Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]

ATP5O Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

ATP5B Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

ATP5E Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

ATP5D Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

LOC100996643 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

LOC100132849 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit pseudogene

LSS Gene

lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

LOC102724580 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

ATP5C1P1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1

PTGDS Gene

prostaglandin D2 synthase 21kDa (brain)

The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]

LOC100507083 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene

CARNS1 Gene

carnosine synthase 1

CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

DUS4L Gene

dihydrouridine synthase 4-like (S. cerevisiae)

ATP5J2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]

PUS1 Gene

pseudouridylate synthase 1

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

PUS3 Gene

pseudouridylate synthase 3

The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GSK3A Gene

glycogen synthase kinase 3 alpha

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

GSK3B Gene

glycogen synthase kinase 3 beta

The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

NOS1 Gene

nitric oxide synthase 1 (neuronal)

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]

NOS2 Gene

nitric oxide synthase 2, inducible

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

NOS3 Gene

nitric oxide synthase 3 (endothelial cell)

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

TBXAS1 Gene

thromboxane A synthase 1 (platelet)

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PUS7 Gene

pseudouridylate synthase 7 (putative)

PFAS Gene

phosphoribosylformylglycinamidine synthase

Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]

PAPSS1 Gene

3'-phosphoadenosine 5'-phosphosulfate synthase 1

Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]

PAPSS2 Gene

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

UROS Gene

uroporphyrinogen III synthase

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

NOS2P3 Gene

nitric oxide synthase 2 pseudogene 3

ATP5EP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1

ATP5EP2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2

SGMS2 Gene

sphingomyelin synthase 2

Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]

SGMS1 Gene

sphingomyelin synthase 1

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]

RPUSD4 Gene

RNA pseudouridylate synthase domain containing 4

ATP5G2P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1

ATP5G2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3

ATP5G2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2

ATP5G2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4

DUS1L Gene

dihydrouridine synthase 1-like (S. cerevisiae)

ATP5HP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1

ATP5HP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3

ATP5HP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2

ATP5HP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4

NPL Gene

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)

This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

LOC100420226 Gene

argininosuccinate synthase 1 pseudogene

LOC105379443 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

ATP5G3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

ATP5G2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010]

GYS1 Gene

glycogen synthase 1 (muscle)

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GYS2 Gene

glycogen synthase 2 (liver)

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

ASS1 Gene

argininosuccinate synthase 1

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

CTPS2 Gene

CTP synthase 2

The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CTPS1 Gene

CTP synthase 1

This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

QRSL1 Gene

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1

LOC440514 Gene

citrate synthase, mitochondrial-like

LOC649024 Gene

citrate synthase pseudogene

TRUB1 Gene

TruB pseudouridine (psi) synthase family member 1

Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]

TRUB2 Gene

TruB pseudouridine (psi) synthase family member 2

Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]

SMS Gene

spermine synthase

This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SRMP2 Gene

spermidine synthase pseudogene 2

NOS2P1 Gene

nitric oxide synthase 2 pseudogene 1

NOS2P2 Gene

nitric oxide synthase 2 pseudogene 2

NOS2P4 Gene

nitric oxide synthase 2 pseudogene 4

RPUSD1 Gene

RNA pseudouridylate synthase domain containing 1

RPUSD2 Gene

RNA pseudouridylate synthase domain containing 2

RPUSD3 Gene

RNA pseudouridylate synthase domain containing 3

LOC128136 Gene

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) pseudogene

C1GALT1P2 Gene

ore 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 2

HAS1 Gene

hyaluronan synthase 1

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HAS2 Gene

hyaluronan synthase 2

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]

HAS3 Gene

hyaluronan synthase 3

The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

ATP5A1P4 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4

ATP5A1P5 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5

ATP5A1P7 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7

ATP5A1P2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2

ATP5A1P3 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3

ATP5A1P8 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8

LOC100529111 Gene

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) pseudogene

ATP5A1P10 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10

SEPSECS Gene

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]

ISPD Gene

isoprenoid synthase domain containing

This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LOC100132039 Gene

spermine synthase pseudogene

NAGS Gene

N-acetylglutamate synthase

The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]

QRSL1P2 Gene

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 2

QRSL1P3 Gene

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 3

NOS1AP Gene

nitric oxide synthase 1 (neuronal) adaptor protein

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]

ATP5F1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1

ATP5F1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3

ATP5F1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5

ATP5F1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4

ATP5F1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7

ATP5F1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6

FDPS Gene

farnesyl diphosphate synthase

This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

CRLS1 Gene

cardiolipin synthase 1

PTGES3L Gene

prostaglandin E synthase 3 (cytosolic)-like

MT-ATP8 Gene

ATP synthase F0 subunit 8

MT-ATP6 Gene

ATP synthase F0 subunit 6

ATPAF2 Gene

ATP synthase mitochondrial F1 complex assembly factor 2

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

ATPAF1 Gene

ATP synthase mitochondrial F1 complex assembly factor 1

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

HCCS Gene

holocytochrome c synthase

The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]

ACCS Gene

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)

ATP5LP5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5

ATP5LP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4

ATP5LP7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7

ATP5LP6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6

ATP5LP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1

ATP5LP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3

ATP5LP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2

ATP5LP8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8

QRSL1P1 Gene

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 1

ATP5G1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3

ATP5G1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1

LOC100419053 Gene

spermine synthase pseudogene

FDPSP10 Gene

farnesyl diphosphate synthase pseudogene 10

LOC102724560 Gene

cystathionine beta-synthase

PTGES Gene

prostaglandin E synthase

The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008]

LOC646347 Gene

spermine synthase pseudogene

DUS3L Gene

dihydrouridine synthase 3-like (S. cerevisiae)

LOC100631337 Gene

nitric oxide synthase trafficking pseudogene

PUS7L Gene

pseudouridylate synthase 7 homolog (S. cerevisiae)-like

ATP5F1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2

LOC100287544 Gene

s-adenosylmethionine synthase isoform type-2-like

LOC648934 Gene

citrate synthase, mitochondrial-like

C1GALT1P1 Gene

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 1

PUS7P1 Gene

pseudouridylate synthase 7 pseudogene 1

SRMP1 Gene

spermidine synthase pseudogene 1

SRM Gene

spermidine synthase

The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]

LTC4S Gene

leukotriene C4 synthase

The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008]

LOC100419085 Gene

spermidine synthase pseudogene

ATP5L Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ATP5G1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2

ATP5G1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6

ATP5G1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7

ATP5G1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4

ATP5G1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5

ATP5G1P8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8

PUSL1 Gene

pseudouridylate synthase-like 1

LOC101928195 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

LOC100420852 Gene

nitric oxide synthase 2, inducible pseudogene

LOC100420853 Gene

nitric oxide synthase 2, inducible pseudogene

AASS Gene

aminoadipate-semialdehyde synthase

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

FPGS Gene

folylpolyglutamate synthase

This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]

LOC100506103 Gene

6-pyruvoyltetrahydropterin synthase pseudogene

MTATP6P2 Gene

mitochondrially encoded ATP synthase 6 pseudogene 2

LOC100422646 Gene

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like pseudogene

DUS2 Gene

dihydrouridine synthase 2

This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

LOC100420061 Gene

adenylosuccinate synthase pseudogene

ATP5F1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

GMPS Gene

guanine monphosphate synthase

In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]

CDS1 Gene

CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1

Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]

CDS2 Gene

CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2

Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]

CS Gene

citrate synthase

The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]

PTS Gene

6-pyruvoyltetrahydropterin synthase

The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]

LOC102724904 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

COASY Gene

CoA synthase

Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]

CBS Gene

cystathionine-beta-synthase

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]

LOC100287966 Gene

ATP synthase-coupling factor 6, mitochondrial-like

NOSTRIN Gene

nitric oxide synthase trafficking

Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]

LOC100419037 Gene

spermine synthase pseudogene

LOC101929293 Gene

prostaglandin E synthase 3 pseudogene

FDPSP9 Gene

farnesyl diphosphate synthase pseudogene 9

FDPSP3 Gene

farnesyl diphosphate synthase pseudogene 3

FDPSP2 Gene

farnesyl diphosphate synthase pseudogene 2

FDPSP1 Gene

farnesyl diphosphate synthase pseudogene 1

FDPSP7 Gene

farnesyl diphosphate synthase pseudogene 7

FDPSP6 Gene

farnesyl diphosphate synthase pseudogene 6

FDPSP5 Gene

farnesyl diphosphate synthase pseudogene 5

FDPSP4 Gene

farnesyl diphosphate synthase pseudogene 4

ATP5G1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

PUS10 Gene

pseudouridylate synthase 10

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

FDPSP8 Gene

farnesyl diphosphate synthase pseudogene 8

C1GALT1 Gene

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

PTGES3P3 Gene

prostaglandin E synthase 3 (cytosolic) pseudogene 3

PTGES3P1 Gene

prostaglandin E synthase 3 (cytosolic) pseudogene 1

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

carbamoyl phosphate synthetase i deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

carbamoyl-phosphate synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity Gene Set

From GO Molecular Function Annotations

genes performing the carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity molecular function from the curated GO Molecular Function Annotations dataset.

carbamoyl-phosphate synthase (ammonia) activity Gene Set

From GO Molecular Function Annotations

genes performing the carbamoyl-phosphate synthase (ammonia) activity molecular function from the curated GO Molecular Function Annotations dataset.

Carbamoyl-phosphate synthase, large subunit, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

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

Carbamoyl-phosphate synthase, small subunit N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbamoyl-phosphate synthase, small subunit N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbamoyl-phosphate synthase, large subunit Gene Set

From InterPro Predicted Protein Domain Annotations

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

Carbamoyl-phosphate synthase large subunit, CPSase domain Gene Set

From InterPro Predicted Protein Domain Annotations

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

Carbamoyl-phosphate synthase, small subunit Gene Set

From InterPro Predicted Protein Domain Annotations

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

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

From CTD Gene-Disease Associations

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

(3S)-3-{[(2S)-1-[(2S)-2-(2-aminoacetamido)-4-methylpentanoyl]pyrrolidin-2-yl]formamido}-3-({[(carboxymethyl)carbamoyl]methyl}carbamoyl)propanoic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (3S)-3-{[(2S)-1-[(2S)-2-(2-aminoacetamido)-4-methylpentanoyl]pyrrolidin-2-yl]formamido}-3-({[(carboxymethyl)carbamoyl]methyl}carbamoyl)propanoic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

carbamoyl phosphate metabolic process Gene Set

From GO Biological Process Annotations

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

carbamoyl phosphate biosynthetic process Gene Set

From GO Biological Process Annotations

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

Carbamoyl phosphate Gene Set

From HMDB Metabolites of Enzymes

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

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

From InterPro Predicted Protein Domain Annotations

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

Carbamoyl-phosphate synthetase, large subunit oligomerisation domain Gene Set

From InterPro Predicted Protein Domain Annotations

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

addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease addison disease; addison's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; graves disease; graves' disease; hashimoto disease; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

dolichol-phosphate-mannose synthase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dolichol-phosphate-mannose synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

alpha,alpha-trehalose-phosphate synthase complex (udp-forming) Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the alpha,alpha-trehalose-phosphate synthase complex (udp-forming) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Dolichol-phosphate mannose (DPM) synthase Gene Set

From CORUM Protein Complexes

proteins in the Dolichol-phosphate mannose (DPM) synthase protein complex from the CORUM Protein Complexes dataset.

dolichol-phosphate-mannose synthase complex Gene Set

From GO Cellular Component Annotations

proteins localized to the dolichol-phosphate-mannose synthase complex cellular component from the curated GO Cellular Component Annotations dataset.

glycogen synthase activity, transferring glucose-1-phosphate Gene Set

From GO Molecular Function Annotations

genes performing the glycogen synthase activity, transferring glucose-1-phosphate molecular function from the curated GO Molecular Function Annotations dataset.

alkylglycerone-phosphate synthase activity Gene Set

From GO Molecular Function Annotations

genes performing the alkylglycerone-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations dataset.

inositol-3-phosphate synthase activity Gene Set

From GO Molecular Function Annotations

genes performing the inositol-3-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations dataset.

n-acylneuraminate-9-phosphate synthase activity Gene Set

From GO Molecular Function Annotations

genes performing the n-acylneuraminate-9-phosphate synthase activity molecular function from the curated GO Molecular Function Annotations dataset.

Myo-inositol-1-phosphate synthase, GAPDH-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myo-inositol-1-phosphate synthase, GAPDH-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myo-inositol-1-phosphate synthase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myo-inositol-1-phosphate synthase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

adenosine 3'-phosphate-5'-phosphate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical adenosine 3'-phosphate-5'-phosphate from the curated CTD Gene-Chemical Interactions dataset.

3'-Phosphate-Adenosine-5'-Phosphate Sulfate Gene Set

From DrugBank Drug Targets

interacting proteins for the 3'-Phosphate-Adenosine-5'-Phosphate Sulfate drug from the curated DrugBank Drug Targets dataset.

protein-pyridoxal-5-phosphate linkage via peptidyl-n6-pyridoxal phosphate-l-lysine Gene Set

From GO Biological Process Annotations

genes participating in the protein-pyridoxal-5-phosphate linkage via peptidyl-n6-pyridoxal phosphate-l-lysine biological process from the curated GO Biological Process Annotations dataset.

sedoheptulose-7-phosphate:d-glyceraldehyde-3-phosphate glyceronetransferase activity Gene Set

From GO Molecular Function Annotations

genes performing the sedoheptulose-7-phosphate:d-glyceraldehyde-3-phosphate glyceronetransferase activity molecular function from the curated GO Molecular Function Annotations dataset.

Glycerol-3-phosphate O-acyltransferase/Dihydroxyacetone phosphate acyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycerol-3-phosphate O-acyltransferase/Dihydroxyacetone phosphate acyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

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

From GAD Gene-Disease Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From 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 Set

From 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.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From 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.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From 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.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From 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.

hyperhomocystinemia; cystathionine beta-synthase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocystinemia; cystathionine beta-synthase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

?mitochondrial complex (atp synthase) deficiency, nuclear type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex (atp synthase) deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex v (atp synthase) deficiency, nuclear type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex v (atp synthase) deficiency, nuclear type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex v (atp synthase) deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?thromboxane synthase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?thromboxane synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leukotriene c4 synthase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukotriene c4 synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hmg-coa synthase-2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hmg-coa synthase-2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

n-acetylglutamate synthase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the n-acetylglutamate synthase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex v (atp synthase) deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

2-(((3,5-dichlorophenyl)carbamoyl)oxy)-2-methyl-3-butenoic acid Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 2-(((3,5-dichlorophenyl)carbamoyl)oxy)-2-methyl-3-butenoic acid from the curated CTD Gene-Chemical Interactions dataset.

1-(2-((1-ethoxycarbonyloxyethoxycarbonylmethyl)carbamoyl)-3-phenylpropyldisulfanylmethyl)-3-methylsulfanylpropylamine Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 1-(2-((1-ethoxycarbonyloxyethoxycarbonylmethyl)carbamoyl)-3-phenylpropyldisulfanylmethyl)-3-methylsulfanylpropylamine from the curated CTD Gene-Chemical Interactions dataset.

6-chloro-5-methyl-1-((2-(2-methylpyrid-3-yloxy)pyrid-5-yl)carbamoyl)indoline Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 6-chloro-5-methyl-1-((2-(2-methylpyrid-3-yloxy)pyrid-5-yl)carbamoyl)indoline from the curated CTD Gene-Chemical Interactions dataset.

(1'S, 2S)-4-amino-N-(1'-carbamoyl-2'-phenylethyl)-2-(4''-methyl-1''-naphthalenesulfonylamino)butanamide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical (1'S, 2S)-4-amino-N-(1'-carbamoyl-2'-phenylethyl)-2-(4''-methyl-1''-naphthalenesulfonylamino)butanamide from the curated CTD Gene-Chemical Interactions dataset.

N-{1-[5-(1-Carbamoyl-2-Mercapto-Ethylcarbamoyl)-Pentylcarbamoyl]-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethyl}-3-{2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Acetylamino}-Succinamic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the N-{1-[5-(1-Carbamoyl-2-Mercapto-Ethylcarbamoyl)-Pentylcarbamoyl]-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethyl}-3-{2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Acetylamino}-Succinamic Acid drug from the curated DrugBank Drug Targets dataset.

5-[(2-methyl-5-{[3-(trifluoromethyl)phenyl]carbamoyl}phenyl)amino]pyridine-3-carboxamide Gene Set

From DrugBank Drug Targets

interacting proteins for the 5-[(2-methyl-5-{[3-(trifluoromethyl)phenyl]carbamoyl}phenyl)amino]pyridine-3-carboxamide drug from the curated DrugBank Drug Targets dataset.

4-AMINO-N-[(2-SULFANYLETHYL)CARBAMOYL]BENZENESULFONAMIDE Gene Set

From DrugBank Drug Targets

interacting proteins for the 4-AMINO-N-[(2-SULFANYLETHYL)CARBAMOYL]BENZENESULFONAMIDE drug from the curated DrugBank Drug Targets dataset.

N-({4-[(2-aminopyridin-4-yl)oxy]-3-fluorophenyl}carbamoyl)-2-(4-fluorophenyl)acetamide Gene Set

From DrugBank Drug Targets

interacting proteins for the N-({4-[(2-aminopyridin-4-yl)oxy]-3-fluorophenyl}carbamoyl)-2-(4-fluorophenyl)acetamide drug from the curated DrugBank Drug Targets dataset.

2-(4-fluorophenyl)-N-{[3-fluoro-4-(1H-pyrrolo[2,3-b]pyridin-4-yloxy)phenyl]carbamoyl}acetamide Gene Set

From DrugBank Drug Targets

interacting proteins for the 2-(4-fluorophenyl)-N-{[3-fluoro-4-(1H-pyrrolo[2,3-b]pyridin-4-yloxy)phenyl]carbamoyl}acetamide drug from the curated DrugBank Drug Targets dataset.

4-Benzoylamino-4-{1-{1-Carbamoyl-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethylcarbamoyl}-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethylcarbamoyl}-Butyric Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the 4-Benzoylamino-4-{1-{1-Carbamoyl-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethylcarbamoyl}-2-[4-(Difluoro-Phosphono-Methyl)-Phenyl]-Ethylcarbamoyl}-Butyric Acid drug from the curated DrugBank Drug Targets dataset.

4-Carbamoyl-4-{[6-(Difluoro-Phosphono-Methyl)-Naphthalene-2-Carbonyl]-Amino}-Butyric Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the 4-Carbamoyl-4-{[6-(Difluoro-Phosphono-Methyl)-Naphthalene-2-Carbonyl]-Amino}-Butyric Acid drug from the curated DrugBank Drug Targets dataset.

{4-[2-Acetylamino-2-(3-Carbamoyl-2-Cyclohexylmethoxy-6,7,8,9-Tetrahydro-5h-Benzocyclohepten-5ylcarbamoyl)-Ethyl]-2-Phosphono-Phenyl}-Phosphonic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the {4-[2-Acetylamino-2-(3-Carbamoyl-2-Cyclohexylmethoxy-6,7,8,9-Tetrahydro-5h-Benzocyclohepten-5ylcarbamoyl)-Ethyl]-2-Phosphono-Phenyl}-Phosphonic Acid drug from the curated DrugBank Drug Targets dataset.

N-Carbamoyl-Alanine Gene Set

From DrugBank Drug Targets

interacting proteins for the N-Carbamoyl-Alanine drug from the curated DrugBank Drug Targets dataset.

5-Chloro-1h-Indole-2-Carboxylic Acid{[Cyclopentyl-(2-Hydroxy-Ethyl)-Carbamoyl]-Methyl}-Amide Gene Set

From DrugBank Drug Targets

interacting proteins for the 5-Chloro-1h-Indole-2-Carboxylic Acid{[Cyclopentyl-(2-Hydroxy-Ethyl)-Carbamoyl]-Methyl}-Amide drug from the curated DrugBank Drug Targets dataset.

Cysteine-Methylene-Carbamoyl-1,10-Phenanthroline Gene Set

From DrugBank Drug Targets

interacting proteins for the Cysteine-Methylene-Carbamoyl-1,10-Phenanthroline drug from the curated DrugBank Drug Targets dataset.

N-({(1R)-1-carboxy-2-[(4-fluorobenzyl)sulfanyl]ethyl}carbamoyl)-L-glutamic acid Gene Set

From DrugBank Drug Targets

interacting proteins for the N-({(1R)-1-carboxy-2-[(4-fluorobenzyl)sulfanyl]ethyl}carbamoyl)-L-glutamic acid drug from the curated DrugBank Drug Targets dataset.

1-Benzyloxycarbonylamino-2-Phenyl-Ethyl)-{2-[1-Carbamoyl-2-(1h-Indol-3-Yl)-Ethylcarbamoyl]-5-Phenyl-Pentyl}-Phosphinic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the 1-Benzyloxycarbonylamino-2-Phenyl-Ethyl)-{2-[1-Carbamoyl-2-(1h-Indol-3-Yl)-Ethylcarbamoyl]-5-Phenyl-Pentyl}-Phosphinic Acid drug from the curated DrugBank Drug Targets dataset.

trans-4-(7-carbamoyl-1H-benzimidazol-2-yl)-1-propylpiperidinium Gene Set

From DrugBank Drug Targets

interacting proteins for the trans-4-(7-carbamoyl-1H-benzimidazol-2-yl)-1-propylpiperidinium drug from the curated DrugBank Drug Targets dataset.

(4-{2-Acetylamino-2-[1-(3-Carbamoyl-4-Cyclohexylmethoxy-Phenyl)-Ethylcarbamoyl}-Ethyl}-2-Phosphono-Phenoxy)-Acetic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the (4-{2-Acetylamino-2-[1-(3-Carbamoyl-4-Cyclohexylmethoxy-Phenyl)-Ethylcarbamoyl}-Ethyl}-2-Phosphono-Phenoxy)-Acetic Acid drug from the curated DrugBank Drug Targets dataset.

(2R)-2-(7-carbamoyl-1H-benzimidazol-2-yl)-2-methylpyrrolidinium Gene Set

From DrugBank Drug Targets

interacting proteins for the (2R)-2-(7-carbamoyl-1H-benzimidazol-2-yl)-2-methylpyrrolidinium drug from the curated DrugBank Drug Targets dataset.

carbamoyl Gene Set

From GeneRIF Biological Term Annotations

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

(3R 5R)-7-(5-{[(4-cyanophenyl)methyl]carbamoyl}-3-(4-fluorophenyl)-4-phenyl-1-(propan-2-yl)-1H-pyrrol-2-yl)-3 5-dihydroxyheptanoate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (3R 5R)-7-(5-{[(4-cyanophenyl)methyl]carbamoyl}-3-(4-fluorophenyl)-4-phenyl-1-(propan-2-yl)-1H-pyrrol-2-yl)-3 5-dihydroxyheptanoate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(1S 2S 3S 5R)-1-(carboxymethyl)-3 5-bis({[(4-phenoxyphenyl)methyl](propyl)carbamoyl})cyclopentane-1 2-dicarboxylic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (1S 2S 3S 5R)-1-(carboxymethyl)-3 5-bis({[(4-phenoxyphenyl)methyl](propyl)carbamoyl})cyclopentane-1 2-dicarboxylic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(1S 2S 3S 4S)-3 4-bis[(2-methylpropyl)[(4-phenoxyphenyl)methyl]carbamoyl]cyclobutane-1 2-dicarboxylic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (1S 2S 3S 4S)-3 4-bis[(2-methylpropyl)[(4-phenoxyphenyl)methyl]carbamoyl]cyclobutane-1 2-dicarboxylic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(2S)-N-[(2S 3R)-1-cyclohexyl-4 4-difluoro-3-hydroxy-4-{[(2S)-2-methylbutyl]carbamoyl}butan-2-yl]-2-[(2S)-2-[(morpholine-4-sulfonyl)amino]-3-phenylpropanamido]pent-4-enamide Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (2S)-N-[(2S 3R)-1-cyclohexyl-4 4-difluoro-3-hydroxy-4-{[(2S)-2-methylbutyl]carbamoyl}butan-2-yl]-2-[(2S)-2-[(morpholine-4-sulfonyl)amino]-3-phenylpropanamido]pent-4-enamide ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(1S 2S 3S 4S)-3 4-bis({butyl[(4-phenoxyphenyl)methyl]carbamoyl})cyclobutane-1 2-dicarboxylic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (1S 2S 3S 4S)-3 4-bis({butyl[(4-phenoxyphenyl)methyl]carbamoyl})cyclobutane-1 2-dicarboxylic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

2-({[(3-{[(2E)-3 7-dimethylocta-2 6-dien-1-yl]oxy}phenyl)methyl]carbamoyl}(hydroxy)amino)-2-methylpropanoate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the 2-({[(3-{[(2E)-3 7-dimethylocta-2 6-dien-1-yl]oxy}phenyl)methyl]carbamoyl}(hydroxy)amino)-2-methylpropanoate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(2S 4R 5S 6S)-2-[(4S 5R)-4-(acetyloxy)-5-benzyl-3-methylidenehexyl]-2-carbamoyl-4-({[(2E 4S 6S)-4 6-dimethyloct-2-enoyl]oxy}methyl)-5-hydroxy-1 3-dioxane-4 5 6-tricarboxylic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (2S 4R 5S 6S)-2-[(4S 5R)-4-(acetyloxy)-5-benzyl-3-methylidenehexyl]-2-carbamoyl-4-({[(2E 4S 6S)-4 6-dimethyloct-2-enoyl]oxy}methyl)-5-hydroxy-1 3-dioxane-4 5 6-tricarboxylic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(6R 7R)-1-[(4S 5R)-4-(acetyloxy)-5-benzyl-3-methylidenehexyl]-4 7-dihydroxy-6-{[(11-phenoxyundecyl)carbamoyl]oxy}-2 8-dioxabicyclo[3.2.1]octane-3 4 5-tricarboxylic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (6R 7R)-1-[(4S 5R)-4-(acetyloxy)-5-benzyl-3-methylidenehexyl]-4 7-dihydroxy-6-{[(11-phenoxyundecyl)carbamoyl]oxy}-2 8-dioxabicyclo[3.2.1]octane-3 4 5-tricarboxylic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(1-methyl-1-{[3-(3-phenoxyphenyl)propyl]carbamoyl}ethyl)phosphonate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (1-methyl-1-{[3-(3-phenoxyphenyl)propyl]carbamoyl}ethyl)phosphonate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

(3R 5R)-7-[1-(4-fluorophenyl)-3-{methyl[(1R)-1-phenylethyl]carbamoyl}-4-(propan-2-yl)-1H-pyrazol-5-yl]-3 5-dihydroxyheptanoate Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the (3R 5R)-7-[1-(4-fluorophenyl)-3-{methyl[(1R)-1-phenylethyl]carbamoyl}-4-(propan-2-yl)-1H-pyrazol-5-yl]-3 5-dihydroxyheptanoate ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

3-Carbamoyl-2-phenylpropionaldehyde Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 3-Carbamoyl-2-phenylpropionaldehyde metabolite from the curated HMDB Metabolites of Enzymes dataset.

3-Carbamoyl-2-phenylpropionic acid Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the 3-Carbamoyl-2-phenylpropionic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.

Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

ribose 5-phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ribose 5-phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyridoxamine 5'-phosphate oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyridoxamine 5'-phosphate oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial phosphate carrier deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial phosphate carrier deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hiv infections; sexually transmitted diseases, viral; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

coronary artery disease; coronary disease; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; disease progression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn disease; crohn's disease; granuloma; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alveolar bone loss; mandibular diseases; maxillary diseases; periodontal diseases; tooth loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alveolar bone loss; mandibular diseases; maxillary diseases; periodontal diseases; tooth loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

graves disease; graves' disease; hashimoto disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease graves disease; graves' disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; crohn disease; crohn's disease; diabetes mellitus; disease; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; parkinson disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

addison disease; graves disease; hashimoto disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease addison disease; graves disease; hashimoto disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn disease; crohn's disease; disease susceptibility Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn disease; crohn's disease; disease susceptibility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; multiple system atrophy; nervous system diseases; parkinson disease; polyradiculoneuropathy, chronic inflammatory demyelinating; tauopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease addison disease; autoimmune diseases; graves disease; hashimoto disease; thyroid diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; cardiovascular diseases; chronic disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

parkinsons disease; alzheimers disease; ataxia; huntingtons disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease parkinsons disease; alzheimers disease; ataxia; huntingtons disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; colorectal neoplasms; crohn disease; crohn's disease; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; disease susceptibility; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; hyperhomocysteinemia; inflammatory bowel disease, nos; inflammatory bowel diseases; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; dementia; dementia, vascular; lewy body disease; pick disease of the brain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

graves disease; graves' disease; hashimoto disease; hypothyroidism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease graves disease; graves' disease; hashimoto disease; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; dementia; dementia, vascular; lewy body disease; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone neoplasms; gastrointestinal diseases; hematologic diseases; kidney diseases; osteosarcoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; gastrointestinal diseases; hematologic diseases; kidney diseases; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; graves disease; graves' disease; hashimoto disease; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colitis; crohn disease; crohn's disease; disease models, animal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colitis; crohn disease; crohn's disease; disease models, animal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; crohn disease; crohn's disease; inflammation; inflammatory bowel disease, nos; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; graft vs host disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; graft vs host disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; infant, premature, diseases; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; infant, premature, diseases; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

nutritional deficiency disease Gene Set

From DISEASES Experimental Gene-Disease Assocation 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 Set

From DISEASES Text-mining Gene-Disease Assocation 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.

coenzyme q10 deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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.

selective igg deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nutritional deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

systemic primary carnitine deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective iga deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

selective immunoglobulin deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

vitamin k deficiency hemorrhagic disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cytochrome-c oxidase deficiency; leigh disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ornithine carbamoyltransferase deficiency disease Gene Set

From GAD Gene-Disease Associations

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

ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acid lipase deficiency and cholesterol ester storage disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deficiency diseases Gene Set

From GAD Gene-Disease Associations

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

celiac disease; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease celiac disease; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron deficiency; anemia of chronic disease Gene Set

From GAD Gene-Disease Associations

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

alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; lung diseases, obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung diseases, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia; gastritis, atrophic; nervous system diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

factor vii deficiency; peripheral vascular diseases; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor vii deficiency; peripheral vascular diseases; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; carcinoma, hepatocellular; hemophilia a; hemophilia b; hepatitis c; lcc - liver cell carcinoma; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hepatitis c Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hepatitis c in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; folic acid deficiency; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

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

kidney diseases; vitamin a deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney diseases; vitamin a deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; arthritis; hemophilia a; synovitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; arthritis; hemophilia a; synovitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a; hemophilia b; hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hemophilia b; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; liver diseases; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; occupational diseases; smoke inhalation injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; vascular diseases; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; vascular diseases; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

celiac disease; common variable immunodeficiency; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; hemophilia a Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary disease; factor xii deficiency; hypercholesterolemia; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

selective ige deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease selective ige deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

selective igg deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease selective igg deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

selective iga deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease selective iga deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

selective immunoglobulin deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease selective immunoglobulin deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

nutritional deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease nutritional deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Deficiency Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ornithine Carbamoyltransferase Deficiency Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

mitochondrial proton-transporting atp synthase complex, catalytic core f(1) Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial proton-transporting atp synthase complex, catalytic core f(1) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

proton-transporting atp synthase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the proton-transporting atp synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

proton-transporting atp synthase, catalytic core Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the proton-transporting atp synthase, catalytic core cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial proton-transporting atp synthase complex, coupling factor f(o) Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial proton-transporting atp synthase complex, coupling factor f(o) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial proton-transporting atp synthase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial proton-transporting atp synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

proton-transporting atp synthase complex, catalytic core f(1) Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the proton-transporting atp synthase complex, catalytic core f(1) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial proton-transporting atp synthase, catalytic core Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial proton-transporting atp synthase, catalytic core cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

proton-transporting atp synthase complex, coupling factor f(o) Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the proton-transporting atp synthase complex, coupling factor f(o) cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

molybdopterin synthase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the molybdopterin synthase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secondary cell wall cellulose synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secondary cell wall cellulose synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

acetyl-coa decarbonylase/synthase-carbon monoxide dehydrogenase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the acetyl-coa decarbonylase/synthase-carbon monoxide dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cellulose synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

anthranilate synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

proton-transporting atp synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chloroplast atp synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

decaprenyl diphosphate synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

fatty acid synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

cysteine synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial proton-transporting atp synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial proton-transporting atp synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polyketide synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

type iii polyketide synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

proton-transporting atp synthase complex, catalytic core f(1) Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the proton-transporting atp synthase complex, catalytic core f(1) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

1,3-beta-d-glucan synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the 1,3-beta-d-glucan synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

proton-transporting atp synthase complex, coupling factor f(o) Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the proton-transporting atp synthase complex, coupling factor f(o) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

type ii polyketide synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

F1F0-ATP synthase (EC 3.6.3.14), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the F1F0-ATP synthase (EC 3.6.3.14), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Molybdopterin synthase Gene Set

From CORUM Protein Complexes

proteins in the Molybdopterin synthase protein complex from the CORUM Protein Complexes dataset.

Nitric oxide synthase-dystrophin complex, skeletal muscle Gene Set

From CORUM Protein Complexes

proteins in the Nitric oxide synthase-dystrophin complex, skeletal muscle protein complex from the CORUM Protein Complexes dataset.

neuronal no synthase (nos1) gene polymorphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neuronal no synthase (nos1) gene polymorphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glycogen synthase protein in muscle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glycogen synthase protein in muscle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

synthase Gene Set

From GeneRIF Biological Term Annotations

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

regulation of thymidylate synthase biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of thymidylate synthase b<