rs140291094, STAC3

N. diseases: 11
Disease: Native American myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 GeneticVariation UNIPROT Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491 2017
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 GeneticVariation BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491 2017
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 GeneticVariation UNIPROT Structural insights into binding of STAC proteins to voltage-gated calcium channels. 29078335 2017
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 CausalMutation CLINVAR Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491 2017
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 CausalMutation CLINVAR Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 23736855 2013
Native American myopathy
CUI: C1850625
Disease: Native American myopathy
0.810 GeneticVariation UNIPROT Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 23736855 2013