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 ▼ |
---|---|---|---|---|---|
C1458155 | Mammary Neoplasms | SQLE | 6713 | squalene epoxidase | Q14534 |
C0376358 | Malignant neoplasm of prostate | SQLE | 6713 | squalene epoxidase | Q14534 |
C0006826 | Malignant Neoplasms | SQLE | 6713 | squalene epoxidase | Q14534 |
C1306459 | Primary malignant neoplasm | SQLE | 6713 | squalene epoxidase | Q14534 |
C0003811 | Cardiac Arrhythmia | SQLE | 6713 | squalene epoxidase | Q14534 |
C0023976 | Long QT Syndrome | SQLE | 6713 | squalene epoxidase | Q14534 |
C1306459 | Primary malignant neoplasm | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0027651 | Neoplasms | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0006826 | Malignant Neoplasms | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0036572 | Seizures | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0004352 | Autistic Disorder | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0025958 | Microcephaly | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0014544 | Epilepsy | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
C0677886 | Epithelial ovarian cancer | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C1846142 | HOYERAAL-HREIDARSSON SYNDROME | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0007134 | Renal Cell Carcinoma | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0263628 | Tumoral calcinosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C1854310 | Hypotrichosis simplex | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0007097 | Carcinoma | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C4721610 | Carcinoma, Ovarian Epithelial | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0014175 | Endometriosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0011849 | Diabetes Mellitus | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0265354 | CHARGE Syndrome | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
C0085681 | Hyperphosphatemia (disorder) | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
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Last updated: August 19, 2024