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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0598608 | Hyperhomocysteinemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0598608 | Hyperhomocysteinemia | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C0598608 | Hyperhomocysteinemia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0598608 | Hyperhomocysteinemia | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0598608 | Hyperhomocysteinemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0598608 | Hyperhomocysteinemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0598608 | Hyperhomocysteinemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0598608 | Hyperhomocysteinemia | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0598226 | Harlequin type ichthyosis | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0598226 | Harlequin type ichthyosis | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0595995 | Idiopathic scoliosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0595995 | Idiopathic scoliosis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0595995 | Idiopathic scoliosis | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0595989 | Carcinoma of larynx | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0595989 | Carcinoma of larynx | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0595989 | Carcinoma of larynx | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0595989 | Carcinoma of larynx | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0595989 | Carcinoma of larynx | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0595989 | Carcinoma of larynx | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0595989 | Carcinoma of larynx | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0595989 | Carcinoma of larynx | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0595989 | Carcinoma of larynx | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0595989 | Carcinoma of larynx | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0595989 | Carcinoma of larynx | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0595989 | Carcinoma of larynx | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
