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 |
---|---|---|---|---|---|
C0239946 | Fibrosis, Liver | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0003507 | Aortic Valve Stenosis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0595989 | Carcinoma of larynx | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0018802 | Congestive heart failure | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0007134 | Renal Cell Carcinoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0015695 | Fatty Liver | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0848558 | Hypospadias | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0079744 | Diffuse Large B-Cell Lymphoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0028860 | Oculocerebrorenal Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0009691 | Congenital cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0341703 | Adult Fanconi syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0015624 | Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0878681 | Dent's disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0392525 | Nephrolithiasis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C1561643 | Chronic Kidney Diseases | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0004509 | Azoospermia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0009806 | Constipation | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0013336 | Dwarfism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0038379 | Strabismus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C1306503 | Congenital exomphalos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0015625 | Fanconi Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C1531647 | Cerebral ventriculomegaly | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C1857395 | De Toni-Debre-Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0027709 | Nephrocalcinosis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0086543 | Cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
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Last updated: August 19, 2024