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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 |
|---|---|---|---|---|---|
| C0035410 | Rhabdomyolysis | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C1565489 | Renal Insufficiency | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0476089 | Endometrial Carcinoma | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0026848 | Myopathy | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0007103 | Malignant neoplasm of endometrium | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0021364 | Male infertility | PGAM4 | 441531 | phosphoglycerate mutase family member 4 | Q8N0Y7 |
| C4014343 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0079541 | Holoprosencephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013421 | Dystonia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0085584 | Encephalopathies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0008489 | Chorea | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0036857 | Severe intellectual disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C3714756 | Intellectual Disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0025958 | Microcephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0234533 | Generalized seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1292769 | Precursor B-cell lymphoblastic leukemia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0520947 | Clumsiness - motor delay | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013336 | Dwarfism | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0235946 | Cerebral atrophy | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0015526 | Factor XII Deficiency | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1527366 | Salaam Seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013384 | Dyskinetic syndrome | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0684276 | Hypsarrhythmia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0854723 | Retinal Dystrophies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
