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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 ▲ |
|---|---|---|---|---|---|
| C0035579 | Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1848336 | Dent disease 1 | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0014761 | Erythroblastosis, Fetal | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0010417 | Cryptorchidism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020428 | Hyperaldosteronism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1848201 | Subcortical Band Heterotopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1621958 | Glioblastoma Multiforme | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0151491 | Congenital musculoskeletal anomalies | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0268435 | Renal Tubular Acidosis, Type II | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0028738 | Nystagmus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3887650 | Adult Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0007971 | Cheilitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0085682 | Hypophosphatemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020502 | Hyperparathyroidism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004352 | Autistic Disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0002418 | Amblyopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0026010 | Microphthalmos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0017168 | Gastroesophageal reflux disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857276 | Trichohepatoenteric Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0025267 | Multiple Endocrine Neoplasia Type 1 | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0001418 | Adenocarcinoma | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0042900 | Vitiligo | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0020538 | Hypertensive disease | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0024115 | Lung diseases | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0027651 | Neoplasms | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
