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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 ▼ |
|---|---|---|---|---|---|
| C0017168 | Gastroesophageal reflux disease | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0032285 | Pneumonia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0000768 | Congenital Abnormality | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0235974 | Pancreatic carcinoma | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C4551974 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0027651 | Neoplasms | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C1306459 | Primary malignant neoplasm | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0014550 | Myoclonic Epilepsy | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0005695 | Bladder Neoplasm | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0004096 | Asthma | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0006826 | Malignant Neoplasms | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0005684 | Malignant neoplasm of urinary bladder | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0007131 | Non-Small Cell Lung Carcinoma | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| 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 |
| C0442874 | Neuropathy | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
