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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 |
|---|---|---|---|---|---|
| C0266362 | Ambiguous Genitalia | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0011849 | Diabetes Mellitus | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C4721610 | Carcinoma, Ovarian Epithelial | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| 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 |
| 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 |
| C0338480 | Common Migraine | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0038505 | Sturge-Weber Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271623 | Hypogonadotropic hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0344315 | Depressed mood | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0035334 | Retinitis Pigmentosa | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0002170 | Alopecia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0028738 | Nystagmus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0524851 | Neurodegenerative Disorders | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0700095 | Central neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0027819 | Neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
