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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 |
|---|---|---|---|---|---|
| C0038644 | Sudden infant death syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3887938 | Deuteranomaly | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0684249 | Carcinoma of lung | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0018784 | Sensorineural Hearing Loss (disorder) | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0020224 | Polyhydramnios | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0242422 | Parkinsonian Disorders | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0024809 | Marijuana Abuse | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0017168 | Gastroesophageal reflux disease | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270844 | Tonic Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751495 | Seizures, Focal | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0234533 | Generalized seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0040517 | Gilles de la Tourette syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0524851 | Neurodegenerative Disorders | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| 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 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
