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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 |
|---|---|---|---|---|---|
| C0595989 | Carcinoma of larynx | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0595989 | Carcinoma of larynx | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0595989 | Carcinoma of larynx | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0595989 | Carcinoma of larynx | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0595989 | Carcinoma of larynx | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| 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 |
| C0598226 | Harlequin type ichthyosis | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0598226 | Harlequin type ichthyosis | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0598608 | Hyperhomocysteinemia | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0598608 | Hyperhomocysteinemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0598608 | Hyperhomocysteinemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0598608 | Hyperhomocysteinemia | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0598608 | Hyperhomocysteinemia | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0598608 | Hyperhomocysteinemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0598608 | Hyperhomocysteinemia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0598608 | Hyperhomocysteinemia | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0598608 | Hyperhomocysteinemia | FOLR1 | 2348 | folate receptor alpha | P15328 |
| C0598608 | Hyperhomocysteinemia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0598608 | Hyperhomocysteinemia | GPX7 | 2882 | glutathione peroxidase 7 | Q96SL4 |
| C0598608 | Hyperhomocysteinemia | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0598608 | Hyperhomocysteinemia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0598608 | Hyperhomocysteinemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0598608 | Hyperhomocysteinemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
