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: rs386833887
rs386833887
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. 22584503 2012
dbSNP: rs386833887
rs386833887
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009
dbSNP: rs386833887
rs386833887
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 11317351 2001
dbSNP: rs386833887
rs386833887
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 CausalMutation CLINVAR