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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 |
|---|---|---|---|---|---|
| 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 |
| C0011581 | Depressive disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0017601 | Glaucoma | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011351 | Dental Enamel Hypoplasia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C2713392 | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020302 | Hydrophthalmos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0033687 | Proteinuria | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0271441 | Chronic otitis media | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0017574 | Gingivitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0268731 | Renal glomerular disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
