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 |
---|---|---|---|---|---|
C0007102 | Malignant tumor of colon | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0020758 | Congenital ichthyosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0007785 | Cerebral Infarction | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0022735 | Klinefelter Syndrome | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0009081 | Congenital clubfoot | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0019196 | Hepatitis C | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0020255 | Hydrocephalus | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0008925 | Cleft Palate | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0008497 | Choriocarcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0023448 | Lymphoid leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0699885 | Carcinoma of bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0018784 | Sensorineural Hearing Loss (disorder) | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0037274 | Dermatologic disorders | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0013604 | Edema | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
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 |
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Last updated: August 19, 2024