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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 |
|---|---|---|---|---|---|
| C0023801 | Lipomatosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0028754 | Obesity | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751449 | Acquired Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1565489 | Renal Insufficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0034152 | Henoch-Schoenlein Purpura | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0269102 | Endometrioma | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0028064 | Niemann-Pick Diseases | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0014175 | Endometriosis | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0005695 | Bladder Neoplasm | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C1306459 | Primary malignant neoplasm | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0023051 | Laryngeal Diseases | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0040580 | Tracheal Diseases | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0677886 | Epithelial ovarian cancer | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0006826 | Malignant Neoplasms | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C4721610 | Carcinoma, Ovarian Epithelial | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0019163 | Hepatitis B | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0302592 | Cervix carcinoma | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0027651 | Neoplasms | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0011847 | Diabetes | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0279014 | Childhood Germ Cell Tumor | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0038454 | Cerebrovascular accident | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0919267 | ovarian neoplasm | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0001973 | Alcoholic Intoxication, Chronic | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0004238 | Atrial Fibrillation | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0026470 | Monoclonal Gammopathy of Undetermined Significance | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
