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: 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: rs386833945
rs386833945
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403397
Disease:
Steroid-resistant nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR
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: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0033687
Disease:
Proteinuria 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0032285
Disease:
Pneumonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). 15086927 2004
dbSNP: rs267606919
rs267606919
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0027726
Disease:
Nephrotic Syndrome 		A 0.700 CausalMutation CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
dbSNP: rs267606919
rs267606919
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0027726
Disease:
Nephrotic Syndrome 		A 0.700 CausalMutation CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
dbSNP: rs267606919
rs267606919
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0027726
Disease:
Nephrotic Syndrome 		A 0.700 CausalMutation CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
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: rs386833945
rs386833945
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0445118
Disease:
Nephrotic range proteinuria 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs386833945
rs386833945
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C3501848
Disease:
Nephrosis, congenital 		A 0.700 GeneticVariation CLINVAR
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: 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: 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: rs1131692245
rs1131692245
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C2243051
Disease:
Large head (disorder) 		T 0.700 CausalMutation CLINVAR
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: 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: 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: 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: 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: 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: 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