rs143570936, SGCA

N. diseases: 5
Disease: Sarcoglycanopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 24565866 2014
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. 21031578 2010
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 18996010 2008
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. 12566530 2003
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 10942431 2000
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. 9153448 1997
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
0.700 CausalMutation CLINVAR Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 7663524 1995