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 GeneticVariation disease CLINVAR Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 28392951 2017
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 Genetic basis of congenital and infantile nephrotic syndromes. 22099579 2011
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 GeneticVariation disease CLINVAR 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 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 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 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 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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		0.800 CausalMutation disease CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016