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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 ▲ |
|---|---|---|---|---|---|
| C0024121 | Lung Neoplasms | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0011847 | Diabetes | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0016978 | gallbladder neoplasm | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0022661 | Kidney Failure, Chronic | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| 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 |
| C0206754 | Neuroendocrine Tumors | SQLE | 6713 | squalene epoxidase | Q14534 |
| C2239176 | Liver carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0600139 | Prostate carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0242379 | Malignant neoplasm of lung | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0684249 | Carcinoma of lung | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0206695 | Carcinoma, Neuroendocrine | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0279626 | Squamous cell carcinoma of esophagus | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0009402 | Colorectal Carcinoma | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0400966 | Non-alcoholic Fatty Liver Disease | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0002395 | Alzheimer's Disease | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0006142 | Malignant neoplasm of breast | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0040252 | Tinea corporis (disorder) | SQLE | 6713 | squalene epoxidase | Q14534 |
