Gene table: search width pubmed_id = 34164833


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
Congenital myasthenic syndrome - (AR)
11.41
33215087
34164833
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
* LAP1B related muscular dystrophy
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC
* Congenital myasthenic syndrome