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
Displaying entries 4876 - 4900 of 62743 in total
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