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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 |
|---|---|---|---|---|---|
| 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 |
| C0027651 | Neoplasms | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0011849 | Diabetes Mellitus | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C1306459 | Primary malignant neoplasm | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0028754 | Obesity | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0524851 | Neurodegenerative Disorders | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C4478379 | MENTAL RETARDATION, X-LINKED 106 | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0678222 | Breast Carcinoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C3714756 | Intellectual Disability | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0006142 | Malignant neoplasm of breast | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0002395 | Alzheimer's Disease | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0345904 | Malignant neoplasm of liver | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C2239176 | Liver carcinoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0002418 | Amblyopia | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0025958 | Microcephaly | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0011884 | Diabetic Retinopathy | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
