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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 |
|---|---|---|---|---|---|
| C0001418 | Adenocarcinoma | A4GNT | 51146 | alpha-1,4-N-acetylglucosaminyltransferase | Q9UNA3 |
| C0700095 | Central neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0027819 | Neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0023467 | Leukemia, Myelocytic, Acute | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C2711227 | Steatohepatitis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0243026 | Sepsis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0400966 | Non-alcoholic Fatty Liver Disease | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0028754 | Obesity | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C3463824 | MYELODYSPLASTIC SYNDROME | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0342708 | Gamma aminobutyric acid transaminase deficiency | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C1510586 | Autism Spectrum Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0014544 | Epilepsy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0238111 | Lennox-Gastaut syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0037769 | West Syndrome | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0242422 | Parkinsonian Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0006826 | Malignant Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0282513 | Primary Progressive Aphasia (disorder) | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0004352 | Autistic Disorder | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751494 | Convulsive Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C1306459 | Primary malignant neoplasm | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0036572 | Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0376545 | Hematologic Neoplasms | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
