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 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 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 15253708

2004

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 CausalMutation CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893

2004

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 21415313

2011

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 CausalMutation CLINVAR Intracellular mislocalization of mutant podocin and correction by chemical chaperones. 12649741

2003

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893

2004

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 CausalMutation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. 19674119

2009

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. 11805166

2002

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 UNIPROT NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208

2007

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 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 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 CausalMutation CLINVAR R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. 19674119

2009

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 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956

2012

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. 21355056

2011

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation 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
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation BEFREE NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208

2007

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. 15769810

2005

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 CausalMutation CLINVAR NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208

2007

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation CLINVAR NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 23013956

2012

Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome
0.680 GeneticVariation UNIPROT NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671

2002