CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

4 disorders 3 untyped 1 susceptibility 2q31.1 gene with protein product

HGNC:1955 Monarch NCBI Gene 1134 ENSG00000138435 UniProt P02708 OMIM 100690

Previous symbols: CHRNA.

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
Adult-Onset Myasthenia Gravis	susceptibility
CHRNA1-Associated Fetal Hypo-akinesia Disorder of Prenatal Onset	untyped Causative	mechanism: Fetal acetylcholine receptor alpha-1 deficiency
Congenital Myasthenic Syndrome	untyped Causal	mechanism: Postsynaptic AChR Deficiency, Kinetic Defect, and Impaired Clustering subtype: CMS1A; CMS1B scoped to subtype: Postsynaptic
Myasthenia Gravis	untyped Risk Factor

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
myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156	AR	Definitive 2024-06-26	Congenital Myasthenic Syndrome untyped

Mechanism modules · computed from kb/

neuromuscular_transmission_failure via Congenital Myasthenic Syndrome

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