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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 |
|---|---|---|---|---|---|
| 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 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0026010 | Microphthalmos | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C4551482 | Adams-Oliver syndrome 1 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0040034 | Thrombocytopenia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0282160 | Aplasia Cutis Congenita | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0265268 | Adams Oliver syndrome | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0003857 | Congenital arteriovenous malformation | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0086543 | Cataract | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0023530 | Leukopenia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0002170 | Alopecia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0036572 | Seizures | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| 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 |
