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PIGA - phosphatidylinositol glycan anchor biosynthesis class A
- Synonym(s) : GPI3, paroxysmal nocturnal hemoglobinuria
- Previous symbols and names : phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
- Type : gene with protein product
- Chromosomal location : Xp22.2
- OMIM: 311770
- HGNC: 8957
- UniProtKB: P37287
- Genatlas: PIGA
- GenCC: PIGA
- Ensembl: ENSG00000165195
- IUPHAR-DB: -
- Reactome: P37287
- LOVD: PIGA
Diseases list
- Disease-causing germline mutation(s) in Ferro-cerebro-cutaneous syndrome
ORPHA:397922 - Disease-causing germline mutation(s) in Infantile spasms syndrome
ORPHA:3451 - Disease-causing germline mutation(s) in Malignant migrating focal seizures of infancy
ORPHA:293181 - Disease-causing germline mutation(s) in Multiple congenital anomalies-hypotonia-seizures syndrome type 2
ORPHA:300496 - Disease-causing somatic mutation(s) in Paroxysmal nocturnal hemoglobinuria
ORPHA:447

Additional information
Patient-centred resources for this gene
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