Gene: NPHS2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. 23595123 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome. 20001346 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185 2012
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 15780077 2005
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. 16810518 2006
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss. 21636722 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. 18443213 2008
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Broadening the spectrum of diseases related to podocin mutations. 12707396 2003
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. 19406966 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 26138234 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. 15496146 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 20507940 2010
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 CausalMutation disease CLINVAR Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002