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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 |
|---|---|---|---|---|---|
| C0031039 | Pericardial effusion | CAT | 847 | catalase | P04040 |
| C0030246 | Pustulosis of Palms and Soles | CAT | 847 | catalase | P04040 |
| C1868598 | PARIETAL FORAMINA | CAT | 847 | catalase | P04040 |
| C0259783 | mixed gliomas | CAT | 847 | catalase | P04040 |
| C1168401 | Squamous cell carcinoma of the head and neck | CAT | 847 | catalase | P04040 |
| C0220981 | Metabolic acidosis | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268583 | Methylmalonic acidemia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0025517 | Metabolic Diseases | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0017168 | Gastroesophageal reflux disease | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0032285 | Pneumonia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| 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 |
| C2239176 | Liver carcinoma | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
| C0019196 | Hepatitis C | DGAT2 | 84649 | diacylglycerol O-acyltransferase 2 | Q96PD7 |
