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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 |
|---|---|---|---|---|---|
| C1301937 | Talipes | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3714756 | Intellectual Disability | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0020255 | Hydrocephalus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0009714 | Hepatic Fibrosis, Congenital | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3203102 | Idiopathic pulmonary arterial hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0039685 | Tetralogy of Fallot | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0023529 | Leukomalacia, Periventricular | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0038379 | Strabismus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C2931779 | Congenital defect of skull and scalp | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0020541 | Portal Hypertension | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0000889 | Acanthosis Nigricans | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0085636 | Photophobia | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0013238 | Dry Eye Syndromes | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0162309 | Adrenoleukodystrophy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C1527231 | Adrenomyeloneuropathy | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0011603 | Dermatitis | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0027651 | Neoplasms | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0020456 | Hyperglycemia | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0005697 | Neurogenic Urinary Bladder | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0025202 | melanoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0017636 | Glioblastoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C1621958 | Glioblastoma Multiforme | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0017638 | Glioma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0278878 | Adult Glioblastoma | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ELOVL2 | 54898 | ELOVL fatty acid elongase 2 | Q9NXB9 |
