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: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123 2013
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 21415313 2011
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 18709391 2009
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 9915943 1999
dbSNP: rs386833947
rs386833947
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR