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: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		AC 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
dbSNP: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		AC 0.700 CausalMutation CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
dbSNP: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006
dbSNP: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. 10577936 1999
dbSNP: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs386833935
rs386833935
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR