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 CausalMutation 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 CausalMutation 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 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 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 CausalMutation 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 CausalMutation 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 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 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 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 CausalMutation disease CLINVAR In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. 15327385 2004
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 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 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 CausalMutation 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