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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 |
|---|---|---|---|---|---|
| C0278878 | Adult Glioblastoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1842534 | DYSTONIA 18 (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1384666 | hearing impairment | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C4721453 | Peripheral Nervous System Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0699791 | Stomach Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0005745 | Blepharoptosis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0028738 | Nystagmus | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0006826 | Malignant Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0345904 | Malignant neoplasm of liver | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1306459 | Primary malignant neoplasm | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1621958 | Glioblastoma Multiforme | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023529 | Leukomalacia, Periventricular | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0393593 | Dystonia Disorders | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007682 | CNS disorder | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C3696376 | 3-Methylglutaconic Aciduria | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1306459 | Primary malignant neoplasm | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0027651 | Neoplasms | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0006826 | Malignant Neoplasms | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0009402 | Colorectal Carcinoma | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0235974 | Pancreatic carcinoma | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0699790 | Colon Carcinoma | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0376358 | Malignant neoplasm of prostate | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| 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 |
