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: 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 Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
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: 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