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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 |
|---|---|---|---|---|---|
| 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 |
| C0009373 | Colonic Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009375 | Colonic Neoplasms | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0009375 | Colonic Neoplasms | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C0009375 | Colonic Neoplasms | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0009375 | Colonic Neoplasms | B3GNT8 | 374907 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 | Q7Z7M8 |
| C0009375 | Colonic Neoplasms | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0009375 | Colonic Neoplasms | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C0009375 | Colonic Neoplasms | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0009375 | Colonic Neoplasms | OGA | 10724 | O-GlcNAcase | O60502 |
| C0009375 | Colonic Neoplasms | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009375 | Colonic Neoplasms | PARP4 | 143 | poly(ADP-ribose) polymerase family member 4 | Q9UKK3 |
