Genopathy
Gene-Disorder Association · Article
Gene
CHRNA1
Cholinergic Receptor Nicotinic Alpha 1 Subunit
Disorder
Myasthenic Syndrome, Congenital, 1a, Slow-Channel
First reported 1995
Supporting publications 9
Key publication · gene–disorder Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.Neuron · 1995
Key publication · disorder Congenital myasthenia gravis: clinical and HLA studies in two brothers.Journal of neurology, neurosurgery, and psychiatry · 1976
Manually curated
Association Review

In brief

The association between CHRNA1 (Cholinergic Receptor Nicotinic Alpha 1 Subunit) and Myasthenic Syndrome, Congenital, 1a, Slow-Channel is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 25
Symptoms 39
Compounds 0
Trials 0
Publications 9
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
CHRNA1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Myasthenic Syndrome, Congenital, 1a, Slow-Channel

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

20 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

25 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

9 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access