NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Finnish congenital nephrotic syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185 2012
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864 2011
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 GeneticVariation CLINVAR Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 21415313 2011
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 GeneticVariation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 GeneticVariation CLINVAR No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 15338398 2004
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 GeneticVariation CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550 2001
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550 2001
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 11317351 2001
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 10652016 2000
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943 1999
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943 1999