SSPN, sarcospan, 8082

N. diseases: 31; N. variants: 16
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE Stabilization of the cardiac sarcolemma by sarcospan rescues DMD-associated cardiomyopathy. 31039133 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE This is the first demonstration that membrane expression of a mutant sarcoglycan-sarcospan complex is insufficient in preventing muscular dystrophy and cardiomyopathy and that the C-terminus of gamma-sarcoglycan is critical for the functioning of the entire sarcoglycan-sarcospan complex. 10942431 2000