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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 |
|---|---|---|---|---|---|
| C0270853 | Juvenile Myoclonic Epilepsy | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0018802 | Congestive heart failure | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0002395 | Alzheimer's Disease | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0008370 | Cholestasis | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0011615 | Dermatitis, Atopic | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0036572 | Seizures | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0013595 | Eczema | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0001973 | Alcoholic Intoxication, Chronic | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0010346 | Crohn Disease | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0018784 | Sensorineural Hearing Loss (disorder) | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0001339 | Acute pancreatitis | CPTP | 80772 | ceramide-1-phosphate transfer protein | Q5TA50 |
| C0007134 | Renal Cell Carcinoma | SLC35G2 | 80723 | solute carrier family 35 member G2 | Q8TBE7 |
| C0011849 | Diabetes Mellitus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1855553 | Pyruvate Dehydrogenase E3-Binding Protein Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0037772 | Spastic Paraplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0346647 | Malignant neoplasm of pancreas | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0027651 | Neoplasms | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0740457 | Malignant neoplasm of kidney | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0342276 | Maturity onset diabetes mellitus in young | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0008312 | Primary biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1335168 | Ovarian mucinous tumor | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0020459 | Hyperinsulinism | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
