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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0002871 | Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0036439 | Scoliosis, unspecified | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1263846 | Attention deficit hyperactivity disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020621 | Hypokalemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0010038 | Corneal Opacity | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0025362 | Mental Retardation | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3665347 | Visual Impairment | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0011334 | Dental caries | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0036572 | Seizures | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0029408 | Degenerative polyarthritis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0035078 | Kidney Failure | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0024523 | Malabsorption Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0037299 | Skin Ulcer | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0037286 | Skin Neoplasms | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020438 | Hypercalciuria | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0241005 | Creatine phosphokinase serum increased | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
