SGCB, sarcoglycan beta, 6443

N. diseases: 64; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease BEFREE Limb-girdle muscular dystrophy type 2E (LGMD2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscles. 29476695 2018
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease 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
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181 2017
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 Biomarker disease BEFREE In this well-defined model of LGMD2E, we have demonstrated the efficacy and safety of systemic scAAV.hSGCB delivery, and these findings have established a path for clinically beneficial AAV-mediated gene therapy for LGMD2E. 28284983 2017
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 Biomarker disease BEFREE β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice. 26214262 2016
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. 25862795 2015
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375 2015
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. 25862795 2015
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Clinical aspects of patients with sarcoglycanopathies under steroids therapy. 25337728 2014
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. 21480868 2012
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. 20071171 2010
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. 20071171 2010
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease BEFREE Further analysis on the muscle biopsy revealed homozygous beta-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E). 20071171 2010
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540 2009
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 CausalMutation disease CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		0.960 GeneticVariation disease CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008