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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol ▼ | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0497327 | Dementia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0038644 | Sudden infant death syndrome | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0024305 | Lymphoma, Non-Hodgkin | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0010346 | Crohn Disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0740391 | Middle Cerebral Artery Occlusion | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0017658 | Glomerulonephritis | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0684249 | Carcinoma of lung | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0752347 | Lewy Body Disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
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 |
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Last updated: August 19, 2024