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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 ▼ |
|---|---|---|---|---|---|
| C0011226 | Hepatitis D Infection | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0006826 | Malignant Neoplasms | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C1561643 | Chronic Kidney Diseases | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0345904 | Malignant neoplasm of liver | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0011615 | Dermatitis, Atopic | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0006142 | Malignant neoplasm of breast | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C1306459 | Primary malignant neoplasm | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0678222 | Breast Carcinoma | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0022661 | Kidney Failure, Chronic | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0013595 | Eczema | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0007102 | Malignant tumor of colon | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0007113 | Rectal Carcinoma | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0009402 | Colorectal Carcinoma | CERS4 | 79603 | ceramide synthase 4 | Q9HA82 |
| C0010038 | Corneal Opacity | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0018801 | Heart failure | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | FKRP | 79147 | fukutin related protein | Q9H9S5 |
