ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
Disease: Salcedo syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403548
Disease: Salcedo syndrome
Salcedo syndrome 		0.010 Biomarker disease BEFREE By linkage analysis and exome sequencing, we unexpectedly identified an LMX1B mutation segregating with disease in a pedigree of five patients with autosomal dominant FSGS but without either extrarenal features or ultrastructural abnormalities of the GBM suggestive of nail-patella-like renal disease. 23687361 2013