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 Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. 19423745 2009
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 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 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 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 GeneticVariation disease CLINVAR Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 18709391 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
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 GeneticVariation disease CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease UNIPROT A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 16316524 2005
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 GeneticVariation disease CLINVAR Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. 15906409 2005
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation 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 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
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 CausalMutation disease CLINVAR Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 15086927 2004