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 |
---|---|---|---|---|---|
C0007867 | Cervix Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C3250443 | MYOTONIC DYSTROPHY 1 | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1840333 | Barakat syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0029456 | Osteoporosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1306459 | Primary malignant neoplasm | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C1510586 | Autism Spectrum Disorders | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0008312 | Primary biliary cirrhosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0031900 | Pierre Robin Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0031511 | Pheochromocytoma | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0002726 | Amyloidosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0158266 | Intervertebral Disc Degeneration | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0025958 | Microcephaly | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0004364 | Autoimmune Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0005744 | Blepharophimosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0036572 | Seizures | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0027651 | Neoplasms | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0029124 | Optic Atrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0023418 | leukemia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0029422 | Osteochondrodysplasias | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0005684 | Malignant neoplasm of urinary bladder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0023473 | Myeloid Leukemia, Chronic | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0003507 | Aortic Valve Stenosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0000768 | Congenital Abnormality | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0008445 | Chondrodysplasia Punctata | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C2239176 | Liver carcinoma | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
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Last updated: August 19, 2024