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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 |
|---|---|---|---|---|---|
| C0002170 | Alopecia | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0002170 | Alopecia | LSS | 4047 | lanosterol synthase | P48449 |
| C0002170 | Alopecia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0002170 | Alopecia | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0002170 | Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002170 | Alopecia | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0002170 | Alopecia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002170 | Alopecia | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0002170 | Alopecia | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0002170 | Alopecia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002170 | Alopecia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0431363 | Alobar Holoprosencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0559469 | Allergy to eggs | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0559469 | Allergy to eggs | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0559469 | Allergy to eggs | LYZ | 4069 | lysozyme | P61626 |
| C0559469 | Allergy to eggs | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C2607914 | Allergic rhinitis (disorder) | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C2607914 | Allergic rhinitis (disorder) | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C2607914 | Allergic rhinitis (disorder) | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C2607914 | Allergic rhinitis (disorder) | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C2607914 | Allergic rhinitis (disorder) | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C2607914 | Allergic rhinitis (disorder) | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C2607914 | Allergic rhinitis (disorder) | KLB | 152831 | klotho beta | Q86Z14 |
| C2607914 | Allergic rhinitis (disorder) | CTBS | 1486 | chitobiase | Q01459 |
| C2607914 | Allergic rhinitis (disorder) | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
