rs267606919, NPHS1

N. diseases: 2
Disease: Finnish congenital nephrotic syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185 2012
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 14570703 2003
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
0.700 CausalMutation CLINVAR Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943 1999