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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 |
|---|---|---|---|---|---|
| C0030297 | Pancreatic Neoplasm | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0032580 | Adenomatous Polyposis Coli | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0036572 | Seizures | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007194 | Hypertrophic Cardiomyopathy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0001125 | Acidosis, Lactic | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0024623 | Malignant neoplasm of stomach | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013421 | Dystonia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0019158 | Hepatitis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0036857 | Severe intellectual disability | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1708349 | Hereditary Diffuse Gastric Cancer | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023264 | Leigh Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0028754 | Obesity | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C2239176 | Liver carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0019159 | Hepatitis A | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0025517 | Metabolic Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018818 | Ventricular Septal Defects | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013384 | Dyskinetic syndrome | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0006142 | Malignant neoplasm of breast | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023520 | Leukodystrophy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0038356 | Stomach Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0002871 | Anemia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0027651 | Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
