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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0005129 | Bernard-Soulier Syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
C0005129 | Bernard-Soulier Syndrome | LGALS8 | 3964 | galectin 8 | O00214 |
C0005129 | Bernard-Soulier Syndrome | PRNP | 5621 | prion protein | P04156 |
C0005129 | Bernard-Soulier Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
C0005122 | Beriberi | CHAT | 1103 | choline O-acetyltransferase | P28329 |
C0005122 | Beriberi | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
C0005122 | Beriberi | TKT | 7086 | transketolase | P29401 |
C0005001 | Benign prostatic hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
C0004997 | Benign Ovarian Neoplasm | NEU1 | 4758 | neuraminidase 1 | Q99519 |
C0004997 | Benign Ovarian Neoplasm | HPSE | 10855 | heparanase | Q9Y251 |
C0004997 | Benign Ovarian Neoplasm | CS | 1431 | citrate synthase | O75390 |
C0004997 | Benign Ovarian Neoplasm | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
C0004997 | Benign Ovarian Neoplasm | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
C0004997 | Benign Ovarian Neoplasm | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
C0004991 | Benign neoplasm of colon | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0004943 | Behcet Syndrome | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C0004943 | Behcet Syndrome | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
C0004943 | Behcet Syndrome | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
C0004943 | Behcet Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0004943 | Behcet Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
C0004943 | Behcet Syndrome | ENO1 | 2023 | enolase 1 | P06733 |
C0004943 | Behcet Syndrome | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
C0004943 | Behcet Syndrome | LYZ | 4069 | lysozyme | P61626 |
C0004943 | Behcet Syndrome | CALR | 811 | calreticulin | P27797 |
C0004943 | Behcet Syndrome | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
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Last updated: August 19, 2024