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 GeneticVariation disease BEFREE To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years). 11854170 2002
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 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. 15769810 2005
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 GeneticVariation disease CLINVAR NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. 15817495 2005
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208 2007
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 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166 2002
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 GeneticVariation disease CLINVAR NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147 2013
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 GeneticVariation disease CLINVAR Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. 14978175 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956 2012
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 GeneticVariation disease CLINVAR Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. 11733557 2001
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. 14675423 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation. 21171529 2010
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 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 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 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.610 GeneticVariation disease CLINVAR NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 23013956 2012