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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 ▲ |
|---|---|---|---|---|---|
| C0575158 | Kyphoscoliosis deformity of spine | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007786 | Brain Ischemia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C3887499 | Renal cyst | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0031046 | Pericarditis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010964 | Dandy-Walker Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1956257 | Pulmonary Stenosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0031117 | Peripheral Neuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0003469 | Anxiety Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0024236 | Lymphedema | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0002395 | Alzheimer's Disease | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0015695 | Fatty Liver | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4317224 | Congenital disorder of glycosylation type 1q | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010417 | Cryptorchidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025517 | Metabolic Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0036341 | Schizophrenia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020676 | Hypothyroidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0027726 | Nephrotic Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0027651 | Neoplasms | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0040128 | Thyroid Diseases | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0007107 | Malignant neoplasm of larynx | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0235974 | Pancreatic carcinoma | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0678222 | Breast Carcinoma | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0006142 | Malignant neoplasm of breast | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0376358 | Malignant neoplasm of prostate | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
