SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024003
Disease: Lordosis
Lordosis
0.110 Biomarker phenotype BEFREE Defect of SGCA was previously shown to lead to severe childhood autosomal recessive muscular dystrophy (LGMD2D) which result in progressive muscle weakness and can also be associated with hyperlordosis or scoliosis. 25106685 2014
CUI: C0024003
Disease: Lordosis
Lordosis
0.110 Biomarker phenotype HPO