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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 |
|---|---|---|---|---|---|
| C0020445 | Hypercholesterolemia, Familial | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0276289 | Zika Virus Infection | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0278878 | Adult Glioblastoma | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0007682 | CNS disorder | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0034494 | Rabies (disorder) | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0034067 | Pulmonary Emphysema | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C1332977 | Childhood Leukemia | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C1621958 | Glioblastoma Multiforme | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0494463 | Alzheimer Disease, Late Onset | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0025958 | Microcephaly | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| 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 |
