Gene table: search width pubmed_id = 22742743


Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, congenital, 13, with tubular aggregates - (AR)
11.21
22742743
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
* Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2
* Myasthenic syndrome, congenital, 13, with tubular aggregates - CMS13