PIGA

phosphatidylinositol glycan anchor biosynthesis class A

2 disorders 1 causative 1 untyped Xp22.2 gene with protein product

HGNC:8957 Monarch NCBI Gene 5277 ENSG00000165195 UniProt P37287 OMIM 311770

Aliases: GPI3, PIG-A.

Normal function · from ai-gene-review (P37287, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	causative germline	mechanism: GPI Anchor Biosynthesis Defect subtype: MCAHS2 scoped to subtype: MCAHS2
Paroxysmal Nocturnal Hemoglobinuria	untyped somatic	mechanism: PIGA Mutation and GPI-Anchor Deficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
complex neurodevelopmental disorder MONDO:0100038	XL	Definitive 2024-04-16	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.