NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0003962
Disease:
Ascites 		T 0.700 CausalMutation CLINVAR
dbSNP: rs115489112
rs115489112
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE Two additional variants (H800R and Y1174H) were nominally associated with protection from end stage renal disease (P=0.036; odds ratio, 0.44; P=0.0084; odds ratio, 0.040, respectively) in the locus-wide single-variant association tests. 24948143 2014
dbSNP: rs146400394
rs146400394
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE Two additional variants (H800R and Y1174H) were nominally associated with protection from end stage renal disease (P=0.036; odds ratio, 0.44; P=0.0084; odds ratio, 0.040, respectively) in the locus-wide single-variant association tests. 24948143 2014
dbSNP: rs35238405
rs35238405
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE In a combined analysis (all patients with end</span> stage renal disease versus all controls), T233A was associated with all-cause end stage renal disease (P=0.0038; odds ratio, 2.82; n=3270 patients and n=1187 controls). 24948143 2014
dbSNP: rs447707
rs447707
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C1561643
Disease:
Chronic Kidney Diseases 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs35238405
rs35238405
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0854078
Disease:
Diabetic end stage renal disease 		0.010 GeneticVariation BEFREE Initial analysis identified rs35238405 (T233A; minor allele frequency=0.0096) as associated with type 2 diabetic end stage renal disease (adjustment for admixture P=0.042; adjustment for admixture+APOL1 P=0.080; odds ratio, 2.89 and 2.36, respectively); with replication in independent type 2 diabetic end stage renal disease samples (P=0.018; odds ratio, 4.30) and nondiabetic end stage renal disease samples (P=0.016; odds ratio, 4.48). 24948143 2014
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0011991
Disease:
Diarrhea 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0013604
Disease:
Edema 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs114203578
rs114203578
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs114203578
rs114203578
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs138656762
rs138656762
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: rs138656762
rs138656762
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: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 GeneticVariation CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
dbSNP: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
dbSNP: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. 24902943 2014
dbSNP: rs138656762
rs138656762
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: rs138656762
rs138656762
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: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 9660941 1998
dbSNP: rs138656762
rs138656762
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: rs138656762
rs138656762
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: rs138656762
rs138656762
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: rs138656762
rs138656762
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: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010