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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 ▼ |
|---|---|---|---|---|---|
| C0040034 | Thrombocytopenia | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0919267 | ovarian neoplasm | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1168401 | Squamous cell carcinoma of the head and neck | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1140680 | Malignant neoplasm of ovary | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0376358 | Malignant neoplasm of prostate | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C3887461 | Head and Neck Carcinoma | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C2239176 | Liver carcinoma | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0034152 | Henoch-Schoenlein Purpura | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0017658 | Glomerulonephritis | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0024117 | Chronic Obstructive Airway Disease | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0152018 | Esophageal carcinoma | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0014859 | Esophageal Neoplasms | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0024117 | Chronic Obstructive Airway Disease | AGPAT3 | 56894 | 1-acylglycerol-3-phosphate O-acyltransferase 3 | Q9NRZ7 |
| C0524851 | Neurodegenerative Disorders | AGPAT3 | 56894 | 1-acylglycerol-3-phosphate O-acyltransferase 3 | Q9NRZ7 |
| C0270715 | Degenerative Diseases, Central Nervous System | AGPAT3 | 56894 | 1-acylglycerol-3-phosphate O-acyltransferase 3 | Q9NRZ7 |
| C0005684 | Malignant neoplasm of urinary bladder | AGPAT4 | 56895 | 1-acylglycerol-3-phosphate O-acyltransferase 4 | Q9NRZ5 |
| C0699885 | Carcinoma of bladder | AGPAT4 | 56895 | 1-acylglycerol-3-phosphate O-acyltransferase 4 | Q9NRZ5 |
| C0005695 | Bladder Neoplasm | AGPAT4 | 56895 | 1-acylglycerol-3-phosphate O-acyltransferase 4 | Q9NRZ5 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551568 | Joubert syndrome 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0155299 | Coloboma of optic disc | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028754 | Obesity | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0086543 | Cataract | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
