SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Disease: Sarcoglycanopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 GeneticVariation disease BEFREE Twenty-five patients with sarcoglycanopathies (11.5%) were identified from 218 confirmed LGMDs, comprising 18 with LGMD2D, 6 with LGMD2E, and one with LGMD2C. 30764848 2019
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 GeneticVariation disease BEFREE Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans). 29360879 2018
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 Biomarker disease BEFREE This could become a valuable tool for the diagnosis of some muscular dystrophies, dystrophinopathies, sarcoglycanopathies (LGMD2D, LGMD2E, and LGMD2C), and dysferlinopathy, especially in situations where the analysis of fresh frozen muscle samples is not routinely available. 28219397 2017
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 Biomarker disease BEFREE The findings suggest that LGMD2E is the most common form of SGCs in the Iranian population and that LGMD2D is the rarest. 28687063 2017
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D. 27120200 2016
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 24565866 2014
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. 21856579 2011
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. 21031578 2010
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. 18535179 2008
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. 18252745 2008
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. 18421900 2007
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. 15736300 2005
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. 12566530 2003
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Novel sarcoglycan gene mutations in a large cohort of Italian patients. 12746421 2003
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 10942431 2000
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. 9585331 1998
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. 9153448 1997
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Mutations in the sarcoglycan genes in patients with myopathy. 9032047 1997
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 9192266 1997
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 Biomarker disease BEFREE LGMD patients affected with primary "sarcoglycanopathies" are classified as LGMD2D, 2E, 2C, and 2F, respectively. 9429136 1997
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.450 CausalMutation disease CLINVAR Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 7663524 1995