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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 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID ▲ |
|---|---|---|---|---|---|
| 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 |
| C0038273 | Stereotypic Movement Disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1845167 | Dent Disease 2 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0003864 | Arthritis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0278878 | Adult Glioblastoma | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011848 | Diabetes Insipidus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3714756 | Intellectual Disability | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1136249 | Mental Retardation, X-Linked | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0040034 | Thrombocytopenia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0019294 | Hernia, Inguinal | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0017636 | Glioblastoma | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1565489 | Renal Insufficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0031099 | Periodontitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0023860 | Listeriosis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0003467 | Anxiety | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
