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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 |
|---|---|---|---|---|---|
| C0220981 | Metabolic acidosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0262655 | Recurrent urinary tract infection | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0007097 | Carcinoma | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0687120 | Nephronophthisis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0002871 | Anemia | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C3808739 | MYASTHENIC SYNDROME, CONGENITAL, 8 | AGRN | 375790 | agrin | O00468 |
| C0023467 | Leukemia, Myelocytic, Acute | AGRN | 375790 | agrin | O00468 |
| C0152013 | Adenocarcinoma of lung (disorder) | AGRN | 375790 | agrin | O00468 |
| C0028738 | Nystagmus | AGRN | 375790 | agrin | O00468 |
| C0238463 | Papillary thyroid carcinoma | AGRN | 375790 | agrin | O00468 |
| C0036572 | Seizures | AGRN | 375790 | agrin | O00468 |
| C0018784 | Sensorineural Hearing Loss (disorder) | AGRN | 375790 | agrin | O00468 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | AGRN | 375790 | agrin | O00468 |
| C0751882 | Myasthenic Syndromes, Congenital | AGRN | 375790 | agrin | O00468 |
| C0002395 | Alzheimer's Disease | AGRN | 375790 | agrin | O00468 |
| C0026998 | Acute Myeloid Leukemia, M1 | AGRN | 375790 | agrin | O00468 |
| C0014877 | Esotropia | AGRN | 375790 | agrin | O00468 |
| C1306459 | Primary malignant neoplasm | AGRN | 375790 | agrin | O00468 |
| C0520680 | Sleep Apnea, Central | AGRN | 375790 | agrin | O00468 |
| C0017168 | Gastroesophageal reflux disease | AGRN | 375790 | agrin | O00468 |
| C1276035 | Pena-Shokeir syndrome type I | AGRN | 375790 | agrin | O00468 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | AGRN | 375790 | agrin | O00468 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | AGRN | 375790 | agrin | O00468 |
| C4082299 | Bulbar palsy | AGRN | 375790 | agrin | O00468 |
