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 CausalMutation disease CLINVAR Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 24565866 2014