SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation UNIPROT Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 30345904 2018
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation UNIPROT Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 30345904 2018
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation BEFREE Immunostaining of a muscle biopsy showed mildly diminished alpha sarcoglycan staining, and SGCA gene sequencing revealed n.C229T; p.Arg77Cys (R77C) and n.C850T; p.Arg284Cys (R284C), which is associated with alpha sarcoglycanopathy. 27297959 2016
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation BEFREE Immunostaining of a muscle biopsy showed mildly diminished alpha sarcoglycan staining, and SGCA gene sequencing revealed n.C229T; p.Arg77Cys (R77C) and n.C850T; p.Arg284Cys (R284C), which is associated with alpha sarcoglycanopathy. 27297959 2016
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults. 26453141 2015
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. 21856579 2011
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 GeneticVariation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 GeneticVariation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. 18252745 2008
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. 18421900 2007
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. 18421900 2007
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Alpha-sarcoglycan is recycled from the plasma membrane in the absence of sarcoglycan complex assembly. 16787395 2006
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. 15736300 2005
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		T 0.810 CausalMutation CLINVAR Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. 15298081 2004
dbSNP: rs137852623
rs137852623
Entrez Id: 6442
Gene Symbol: SGCA
SGCA
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation UNIPROT Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. 9585331 1998
dbSNP: rs28933693
rs28933693
Entrez Id: 6442;105371818
Gene Symbol: SGCA;LOC105371818
SGCA;LOC105371818
CUI: C2936332
Disease:
Alpha-Sarcoglycanopathies 		0.810 GeneticVariation UNIPROT Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. 9585331 1998