NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Finnish congenital nephrotic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1. 12047969 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS). 11854170 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. 14570703 2003
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome. 15579507 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 15086927 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. 15213260 2004
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 16316524 2005
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 15780077 2005
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. 15906409 2005
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 15780077 2005
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin. 16941028 2006
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 17371932 2007
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 CausalMutation disease CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease CLINVAR Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009