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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 |
|---|---|---|---|---|---|
| C0018572 | Hand, Foot and Mouth Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0011265 | Presenile dementia | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1306459 | Primary malignant neoplasm | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751780 | Biotin-Responsive Encephalopathy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0700095 | Central neuroblastoma | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0027066 | Myoclonus | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0039685 | Tetralogy of Fallot | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1168401 | Squamous cell carcinoma of the head and neck | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751776 | Atypical Inclusion-Body Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0011311 | Dengue Fever | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3714756 | Intellectual Disability | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0151744 | Myocardial Ischemia | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0376358 | Malignant neoplasm of prostate | UGT2B11 | 10720 | UDP glucuronosyltransferase family 2 member B11 | O75310 |
| C0345905 | Intrahepatic Cholangiocarcinoma | UGT2B11 | 10720 | UDP glucuronosyltransferase family 2 member B11 | O75310 |
| C0028064 | Niemann-Pick Diseases | OGA | 10724 | O-GlcNAcase | O60502 |
| C0030567 | Parkinson Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0039373 | Tay-Sachs Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0011847 | Diabetes | OGA | 10724 | O-GlcNAcase | O60502 |
| C0087012 | Ataxia, Spinocerebellar | OGA | 10724 | O-GlcNAcase | O60502 |
| C0011849 | Diabetes Mellitus | OGA | 10724 | O-GlcNAcase | O60502 |
| C0036161 | Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C1565489 | Renal Insufficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C0040963 | Tricuspid Valve Stenosis | OGA | 10724 | O-GlcNAcase | O60502 |
