Gene: NPHS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 9660941 1998
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 19194555 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. 21672106 2012
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene. 9915943 1999
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. 11317351 2001
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. 10972661 2000
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 25720465 2015
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 19194555 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease BEFREE Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). 25557780 2015
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 19321760 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 19406966 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 15086927 2004
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. 22584503 2012
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Treatment and outcome of congenital nephrotic syndrome. 29474669 2019
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 15780077 2005
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Functional analysis of NPHS1 mutations in Japanese patients. 24142548 2014
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 Biomarker disease GENOMICS_ENGLAND Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 10652016 2000
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 25729976 2015