SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Disease: Respiratory Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.010 GeneticVariation phenotype LHGDN In this study, two adult brothers, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory. 15298081 2004