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: rs749341977
rs749341977
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
dbSNP: rs749341977
rs749341977
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. 19423745 2009