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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 |
|---|---|---|---|---|---|
| C0035334 | Retinitis Pigmentosa | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0476254 | Dyslexia | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003507 | Aortic Valve Stenosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0086795 | Pfaundler-Hurler Syndrome | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0684249 | Carcinoma of lung | TPST1 | 8460 | tyrosylprotein sulfotransferase 1 | O60507 |
| C0009402 | Colorectal Carcinoma | TPST1 | 8460 | tyrosylprotein sulfotransferase 1 | O60507 |
| C0242379 | Malignant neoplasm of lung | TPST1 | 8460 | tyrosylprotein sulfotransferase 1 | O60507 |
| C0003868 | Arthritis, Gouty | TPST1 | 8460 | tyrosylprotein sulfotransferase 1 | O60507 |
| C0027651 | Neoplasms | TPST1 | 8460 | tyrosylprotein sulfotransferase 1 | O60507 |
| C0006142 | Malignant neoplasm of breast | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0014859 | Esophageal Neoplasms | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0206682 | Follicular thyroid carcinoma | ST6GAL2 | 84620 | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 | Q96JF0 |
| C0086445 | Idiopathic Membranous Glomerulonephritis | PLA2G12B | 84647 | phospholipase A2 group XIIB | Q9BX93 |
| C0025322 | Premature Menopause | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0015695 | Fatty Liver | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0022661 | Kidney Failure, Chronic | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0028754 | Obesity | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C4721453 | Peripheral Nervous System Diseases | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0852949 | Arteriopathic disease | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C2750441 | LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0015696 | Fatty Liver, Alcoholic | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0027651 | Neoplasms | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0008370 | Cholestasis | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0007959 | Charcot-Marie-Tooth Disease | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
