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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 |
|---|---|---|---|---|---|
| C0036439 | Scoliosis, unspecified | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0221356 | Brachycephaly | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036857 | Severe intellectual disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3714756 | Intellectual Disability | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0027765 | nervous system disorder | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0032285 | Pneumonia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0036572 | Seizures | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0079924 | Oligohydramnios | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0037769 | West Syndrome | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0019569 | Hirschsprung Disease | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0025362 | Mental Retardation | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0039446 | Telangiectasis | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014877 | Esotropia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014544 | Epilepsy | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014550 | Myoclonic Epilepsy | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0221356 | Brachycephaly | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0020295 | Hydronephrosis | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0036439 | Scoliosis, unspecified | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0235833 | Congenital diaphragmatic hernia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0748607 | Recurrent seizure | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0027066 | Myoclonus | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0684276 | Hypsarrhythmia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
