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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 |
|---|---|---|---|---|---|
| C0009375 | Colonic Neoplasms | CHKA | 1119 | choline kinase alpha | P35790 |
| C0266508 | Rachischisis | CHKA | 1119 | choline kinase alpha | P35790 |
| C0751882 | Myasthenic Syndromes, Congenital | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1568363 | Tendinosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3714756 | Intellectual Disability | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0028043 | Nicotine Dependence | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004096 | Asthma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270824 | Visual seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0699790 | Colon Carcinoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038454 | Cerebrovascular accident | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0011570 | Mental Depression | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0002395 | Alzheimer's Disease | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0036341 | Schizophrenia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0028738 | Nystagmus | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751398 | Familial Olivopontocerebellar Atrophy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0233794 | Memory impairment | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0027651 | Neoplasms | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0494463 | Alzheimer Disease, Late Onset | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0520680 | Sleep Apnea, Central | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0005745 | Blepharoptosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0393929 | Familial infantile myasthenia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1843013 | Alzheimer disease, familial, type 3 | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0494475 | Tonic - clonic seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | CHAT | 1103 | choline O-acetyltransferase | P28329 |
