Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 GeneticVariation disease BEFREE Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. 26820844 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 GeneticVariation disease CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 Biomarker disease GENOMICS_ENGLAND Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 26138234 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 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 		0.680 GeneticVariation disease UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. 24500309 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation 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 		0.680 GeneticVariation disease BEFREE Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. 24509478 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 CausalMutation disease CLINVAR Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family. 25852895 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. 24856380 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease UNIPROT 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 		0.680 GeneticVariation disease UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530 2013