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 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 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 		0.680 CausalMutation disease CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. 21415313 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR Intracellular mislocalization of mutant podocin and correction by chemical chaperones. 12649741 2003
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 GeneticVariation disease CLINVAR A novel mutation of NPHS2 identified in a Chinese family. 15322893 2004
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 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 		0.680 GeneticVariation disease 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 		0.680 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 		0.680 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 UNIPROT NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208 2007
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 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 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 CausalMutation disease 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 		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 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956 2012
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. 21355056 2011
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation 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 		0.680 GeneticVariation disease BEFREE NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208 2007
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. 15769810 2005
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 CausalMutation disease CLINVAR NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208 2007
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome. 23013956 2012
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease UNIPROT NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671 2002