SYNPO, synaptopodin, 11346

N. diseases: 37; N. variants: 3
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		0.310 GeneticVariation disease BEFREE So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS. 19666657 2010
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		0.310 Biomarker disease GENOMICS_ENGLAND Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. 19666657 2010