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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 |
|---|---|---|---|---|---|
| C0220766 | Congenital hypoplasia of adrenal gland | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0030567 | Parkinson Disease | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0020179 | Huntington Disease | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0003873 | Rheumatoid Arthritis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0035372 | Rett Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751494 | Convulsive Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0520679 | Sleep Apnea, Obstructive | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0175709 | Centronuclear myopathy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0032290 | Aspiration Pneumonia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0234535 | Clonic Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0024117 | Chronic Obstructive Airway Disease | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0025202 | melanoma | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0029408 | Degenerative polyarthritis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0026769 | Multiple Sclerosis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0004153 | Atherosclerosis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0017636 | Glioblastoma | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0004623 | Bacterial Infections | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0037221 | Situs Inversus | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0002395 | Alzheimer's Disease | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0009319 | Colitis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0023418 | leukemia | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0027873 | Neuromyelitis Optica | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0032463 | Polycythemia Vera | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0014070 | Encephalomyelitis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0003850 | Arteriosclerosis | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
