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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 |
| C0002985 | Angiokeratoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0002985 | Angiokeratoma | GLA | 2717 | galactosidase alpha | P06280 |
| C0002985 | Angiokeratoma | MANBA | 4126 | mannosidase beta | O00462 |
| C0002982 | Angioid Streaks | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0002982 | Angioid Streaks | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0002982 | Angioid Streaks | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0002982 | Angioid Streaks | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0002982 | Angioid Streaks | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0002982 | Angioid Streaks | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002965 | Angina, Unstable | ARSA | 410 | arylsulfatase A | P15289 |
| C0002965 | Angina, Unstable | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002965 | Angina, Unstable | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0002965 | Angina, Unstable | CHGA | 1113 | chromogranin A | P10645 |
| C0002965 | Angina, Unstable | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0002965 | Angina, Unstable | ACE | 1636 | angiotensin I converting enzyme | P12821 |
