SGCB, sarcoglycan beta, 6443

N. diseases: 64; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		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: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. 25862795 2015
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. 25862795 2015
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR 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
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR 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
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.810 GeneticVariation 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
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 10942431 2000
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 10942431 2000
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. 10993494 2000
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.810 GeneticVariation UNIPROT LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. 9631401 1998
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.810 GeneticVariation UNIPROT Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. 9565988 1998
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 CausalMutation CLINVAR Mutations in the sarcoglycan genes in patients with myopathy. 9032047 1997
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		A 0.810 GeneticVariation CLINVAR Mutations in the sarcoglycan genes in patients with myopathy. 9032047 1997
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.810 GeneticVariation UNIPROT Mutations in the sarcoglycan genes in patients with myopathy. 9032047 1997
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.810 GeneticVariation UNIPROT Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). 8968749 1996
dbSNP: rs104893869
rs104893869
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C1858593
Disease:
Limb-girdle muscular dystrophy, type 2E 		0.800 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