Congenital myasthenic syndrome 16
Also known as CMS16, SCN4A congenital myasthenic syndrome, congenital myasthenic syndrome acetazolamide-responsive, congenital myasthenic syndrome caused by mutation in SCN4A+4 more
CMS16, SCN4A congenital myasthenic syndrome, congenital myasthenic syndrome acetazolamide-responsive, congenital myasthenic syndrome caused by mutation in SCN4A, congenital myasthenic syndrome type 16, myasthenic syndrome, congenital, type 16, myasthenic syndrome, congenital, 16, myasthenic syndrome, congenital, Acetazolamide-responsive.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
CMS16, SCN4A congenital myasthenic syndrome, congenital myasthenic syndrome acetazolamide-responsive, congenital myasthenic syndrome caused by mutation in SCN4A, congenital myasthenic syndrome type 16, myasthenic syndrome, congenital, type 16, myasthenic syndrome, congenital, 16, myasthenic syndrome, congenital, Acetazolamide-responsive
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.