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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 ▲ |
|---|---|---|---|---|---|
| C0020302 | Hydrophthalmos | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0042514 | Tachycardia, Ventricular | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036857 | Severe intellectual disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| 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 |
| C0006826 | Malignant Neoplasms | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002312 | alpha-Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0007102 | Malignant tumor of colon | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C1704272 | Benign Prostatic Hyperplasia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0017551 | Gilbert Disease (disorder) | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C3887461 | Head and Neck Carcinoma | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002895 | Anemia, Sickle Cell | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0235974 | Pancreatic carcinoma | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
