SGCB, sarcoglycan beta, 6443

N. diseases: 64; N. variants: 30
Disease: Beta-sarcoglycanopathy ×
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: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 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: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 CausalMutation CLINVAR Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. 20071171 2010
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 CausalMutation CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 CausalMutation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
dbSNP: rs886042503
rs886042503
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C2930900
Disease:
Beta-sarcoglycanopathy 		C 0.700 GeneticVariation CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
dbSNP: rs150518260
rs150518260
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 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: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 CausalMutation CLINVAR Mutations in the sarcoglycan genes in patients with myopathy. 9032047 1997
dbSNP: rs752492870
rs752492870
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C2930900
Disease:
Beta-sarcoglycanopathy 		A 0.700 GeneticVariation CLINVAR