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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 |
|---|---|---|---|---|---|
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0019562 | Von Hippel-Lindau Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0019562 | Von Hippel-Lindau Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042900 | Vitiligo | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0042900 | Vitiligo | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0042900 | Vitiligo | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0042900 | Vitiligo | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0042900 | Vitiligo | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0042900 | Vitiligo | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0042900 | Vitiligo | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0042900 | Vitiligo | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0042900 | Vitiligo | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0042900 | Vitiligo | CALR | 811 | calreticulin | P27797 |
| C0042900 | Vitiligo | CANX | 821 | calnexin | P27824 |
| C0042900 | Vitiligo | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042900 | Vitiligo | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C0042900 | Vitiligo | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0042900 | Vitiligo | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0042900 | Vitiligo | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0042900 | Vitiligo | KLRC1 | 3821 | killer cell lectin like receptor C1 | P26715 |
| C0042900 | Vitiligo | FADS1 | 3992 | fatty acid desaturase 1 | O60427 |
| C0042900 | Vitiligo | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0042900 | Vitiligo | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0042900 | Vitiligo | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
