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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 |
|---|---|---|---|---|---|
| C0027960 | Nevus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027960 | Nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0027960 | Nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027960 | Nevus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2675526 | Neutropenia, Severe Congenital, Autosomal Recessive 4 | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0027947 | Neutropenia | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0027947 | Neutropenia | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0027947 | Neutropenia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0027947 | Neutropenia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0027947 | Neutropenia | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0027947 | Neutropenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0027947 | Neutropenia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0027947 | Neutropenia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0027947 | Neutropenia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0027947 | Neutropenia | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0027947 | Neutropenia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0027947 | Neutropenia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0027947 | Neutropenia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0027947 | Neutropenia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0027947 | Neutropenia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0027947 | Neutropenia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0027947 | Neutropenia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0027947 | Neutropenia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0027947 | Neutropenia | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0027947 | Neutropenia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
