SYNPO, synaptopodin, 11346

N. diseases: 37; N. variants: 3
Disease: Primary Focal Segmental Glomerulosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1709661
Disease: Primary Focal Segmental Glomerulosclerosis
Primary Focal Segmental Glomerulosclerosis 		0.020 GeneticVariation disease BEFREE To investigate the promoter mutations of ACTN4 and SYNPO genes in patients with idiopathic focal segmental glomerulosclerosis (FSGS), and to provide functional analysis of these mutations in the role of FSGS occurrence. 19666657 2010
CUI: C1709661
Disease: Primary Focal Segmental Glomerulosclerosis
Primary Focal Segmental Glomerulosclerosis 		0.020 AlteredExpression disease BEFREE Reduced expression of both synaptopodin and GLEPP1 is associated with poor response to steroid therapy in primary FSGS. 16564554 2006