GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Myopathy, Tubular Aggregate, 1  
Disease Aliases (14)

Aggregate myopathies, tubular

Aggregate myopathy, tubular

Myopathies, tubular aggregate

Myopathy with tubular aggregates

Stim1 tubular aggregate myopathy

Tam

Tam1

Tubular aggregate myopathy

Tubular aggregate myopathies

Myopathy, tubular aggregate, 1

Myopathy, tubular aggregate, 1; tam1

Myopathy, tubular aggregate, type 1

Tubular aggregate myopathy caused by mutation in stim1

Associated Genes (3)
 

NCBI-RefSeq:  ORAI1   (ORAI calcium release-activated calcium modulator 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CASQ1   (Calsequestrin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  STIM1   (Stromal interaction molecule 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Myopathy, tubular aggregate, 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations