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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 |
|---|---|---|---|---|---|
| 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 |
| C0271270 | Oculovestibuloauditory syndrome | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0494475 | Tonic - clonic seizures | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0036857 | Severe intellectual disability | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0020490 | Hyperopia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C2749283 | Gm2-Gangliosidosis, Variant B1 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0040963 | Tricuspid Valve Stenosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0268274 | Gangliosidoses, GM2 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0041341 | Tuberous Sclerosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0036161 | Sandhoff Disease | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0013384 | Dyskinetic syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C1832916 | Timothy syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0040517 | Gilles de la Tourette syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0039373 | Tay-Sachs Disease | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0027651 | Neoplasms | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0042900 | Vitiligo | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0024299 | Lymphoma | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0023473 | Myeloid Leukemia, Chronic | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
