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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 ▲ |
|---|---|---|---|---|---|
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0025958 | Microcephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266174 | Duodenal atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0585442 | Osteosarcoma of bone | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339789 | Congenital deafness | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0039685 | Tetralogy of Fallot | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C2981150 | Uranostaphyloschisis | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1609433 | Congenital absence of kidneys syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0000768 | Congenital Abnormality | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0027819 | Neuroblastoma | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266667 | Cyclocephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0004096 | Asthma | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339573 | Glaucoma, Primary Open Angle | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1840235 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0242343 | Panhypopituitarism | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0036572 | Seizures | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0027651 | Neoplasms | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0029294 | Orofaciodigital Syndromes | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0020456 | Hyperglycemia | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0013336 | Dwarfism | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017919 | Glycogen Storage Disease | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C2239176 | Liver carcinoma | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017922 | Glycogen Storage Disease Type III | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C1855520 | Hyperglycemia, Postprandial | GYS2 | 2998 | glycogen synthase 2 | P54840 |
