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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 |
|---|---|---|---|---|---|
| C0342482 | X-linked Adrenal Hypoplasia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0022610 | Kernicterus | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0011581 | Depressive disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004352 | Autistic Disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4310654 | MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1863051 | ALZHEIMER DISEASE 2 | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0035309 | Retinal Diseases | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004936 | Mental disorders | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0162292 | External Ophthalmoplegia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0497327 | Dementia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0014070 | Encephalomyelitis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0024121 | Lung Neoplasms | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0007102 | Malignant tumor of colon | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004238 | Atrial Fibrillation | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0011847 | Diabetes | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0013080 | Down Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0027868 | Neuromuscular Diseases | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0029408 | Degenerative polyarthritis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0017605 | Angle Closure Glaucoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0017606 | Primary angle-closure glaucoma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0009806 | Constipation | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0034069 | Pulmonary Fibrosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038273 | Stereotypic Movement Disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0575158 | Kyphoscoliosis deformity of spine | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0086647 | Mucopolysaccharidosis Type IIIA | CHAT | 1103 | choline O-acetyltransferase | P28329 |
