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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 |
|---|---|---|---|---|---|
| C0013069 | Double Outlet Right Ventricle | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3151221 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C4015619 | EPILEPSY, PROGRESSIVE MYOCLONIC, 8 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0494475 | Tonic - clonic seizures | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0020179 | Huntington Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751782 | May-White Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3178805 | Heterotaxy Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0238463 | Papillary thyroid carcinoma | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0015695 | Fatty Liver | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1868193 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751778 | Myoclonic Epilepsies, Progressive | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0027651 | Neoplasms | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0006826 | Malignant Neoplasms | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0024530 | Malaria | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| 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 |
