Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718

2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945

2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286

2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation CLINVAR Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation. 26413278

2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 Biomarker 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation CLINVAR Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733

2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199

2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation CLINVAR Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478

2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477

2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 CausalMutation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.680 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530

2013