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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 |
|---|---|---|---|---|---|
| C0004943 | Behcet Syndrome | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004943 | Behcet Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004943 | Behcet Syndrome | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0004991 | Benign neoplasm of colon | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| 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 |
| C0005001 | Benign prostatic hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| 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 |
| 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 |
| C0005138 | Berylliosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0005283 | beta Thalassemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0005283 | beta Thalassemia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0005283 | beta Thalassemia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0005283 | beta Thalassemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0005283 | beta Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0005283 | beta Thalassemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
