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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 |
|---|---|---|---|---|---|
| C0002986 | Fabry Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0002986 | Fabry Disease | LGALS3 | 3958 | galectin 3 | P17931 |
| C0002986 | Fabry Disease | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0002986 | Fabry Disease | SELE | 6401 | selectin E | P16581 |
| C0002986 | Fabry Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0002986 | Fabry Disease | UMOD | 7369 | uromodulin | P07911 |
| C0002986 | Fabry Disease | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0002986 | Fabry Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0002986 | Fabry Disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0002986 | Fabry Disease | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0002989 | Epithelioid hemangioma of skin | LGALS9 | 3965 | galectin 9 | O00182 |
| C0002994 | Angioedema | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0003028 | Anhidrosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0003028 | Anhidrosis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0003028 | Anhidrosis | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0003028 | Anhidrosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0003028 | Anhidrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0003028 | Anhidrosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0003028 | Anhidrosis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0003076 | Aniridia | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0003076 | Aniridia | FH | 2271 | fumarate hydratase | P07954 |
| C0003076 | Aniridia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0003076 | Aniridia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0003076 | Aniridia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0003076 | Aniridia | CAT | 847 | catalase | P04040 |
