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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 |
|---|---|---|---|---|---|
| C0009375 | Colonic Neoplasms | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0009375 | Colonic Neoplasms | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0009375 | Colonic Neoplasms | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0009373 | Colonic Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009363 | Congenital ocular coloboma (disorder) | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0009363 | Congenital ocular coloboma (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0009363 | Congenital ocular coloboma (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0009363 | Congenital ocular coloboma (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0009363 | Congenital ocular coloboma (disorder) | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0009363 | Congenital ocular coloboma (disorder) | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0009363 | Congenital ocular coloboma (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0009363 | Congenital ocular coloboma (disorder) | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0009363 | Congenital ocular coloboma (disorder) | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0009363 | Congenital ocular coloboma (disorder) | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0009363 | Congenital ocular coloboma (disorder) | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0009363 | Congenital ocular coloboma (disorder) | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0009363 | Congenital ocular coloboma (disorder) | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0009363 | Congenital ocular coloboma (disorder) | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0009326 | Collagen Diseases | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0009326 | Collagen Diseases | SELE | 6401 | selectin E | P16581 |
| C0009324 | Ulcerative Colitis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0009324 | Ulcerative Colitis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0009324 | Ulcerative Colitis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
