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: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994 2019
dbSNP: rs2071327
rs2071327
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The frequencies of the four synonymous mutations (c.C294T [p.I98I], c.C2223T [p.T741 T], c.C2289T [p.V763 V], c.G3315A [p.S1105S]) were much higher in FSGS patients than in controls. 31216994 2019
dbSNP: rs4806213
rs4806213
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis
0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994 2019
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551 2018
dbSNP: rs778552202
rs778552202
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C3501848
Disease:
Nephrosis, congenital
0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071 2018
dbSNP: rs962888148
rs962888148
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551 2018
dbSNP: rs115308424
rs115308424
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome
0.010 GeneticVariation BEFREE Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 28059119 2017
dbSNP: rs115308424
rs115308424
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403548
Disease:
Salcedo syndrome
0.010 GeneticVariation BEFREE Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). 28059119 2017
dbSNP: rs35423326
rs35423326
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403440
Disease:
Thin basement membrane disease
0.010 GeneticVariation BEFREE Genotyping for two high-scored variants in 103 TBMN adult patients with founder mutations who were classified as mildly or severely affected, pointed to an association with variant NEPH3-V353M (filtrin). 28334007 2017
dbSNP: rs2285450
rs2285450
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation BEFREE Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family. 26147534 2015
dbSNP: rs437168
rs437168
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0027726
Disease:
Nephrotic Syndrome
0.010 GeneticVariation BEFREE Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS. 25599733 2015
dbSNP: rs437168
rs437168
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation BEFREE Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family. 26147534 2015
dbSNP: rs437168
rs437168
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0035078
Disease:
Kidney Failure
0.010 GeneticVariation BEFREE Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family. 26147534 2015
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital
0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976 2015
dbSNP: rs115489112
rs115489112
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
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: 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: rs146400394
rs146400394
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
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: 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: rs35238405
rs35238405
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022661
Disease:
Kidney Failure, Chronic
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: rs3814995
rs3814995
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The logistic regression analysis indicated that even after adjusting for the effect of proteinuria and hypertension the GG genotype of NPHS1 G349A was an independent risk factor for the deteriorated renal function at the time of diagnosis. 12920248 2003
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: rs447707
rs447707
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0022661
Disease:
Kidney Failure, Chronic
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: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome
A 0.700 CausalMutation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017