Gene table: search width pubmed_id = 11172068


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Congenital myasthenic syndrome related to choline acetyltransferase - (AR)
11.12
11172068
1840566
CHAT (10q11.2)
Choline acetyltransferase isoform
* Myasthenia gravis, autosomal recessive - MGI
* Myasthenia gravis, familial infantile - FIMG
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA
* Myasthenia gravis, familial infantile, 2 - FIMG2