SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
Disease: Sarcoglycanopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.020 Biomarker disease BEFREE The loss of any protein (α-, β-, γ-, δ-sarcoglycan) that represent sarcoglycanopathy may cause reduction or absence of the other three proteins. 30989758 2019
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.020 GeneticVariation disease BEFREE A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. 9832045 1998