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 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 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 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 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 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 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 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
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease CLINVAR Steroid-resistant nephrotic syndrome. 18596732 2008
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 GeneticVariation disease BEFREE We reviewed the clinical features of 40 patients with NS associated with heterozygous mutations or variants in NPHS1 (n = 7) or NPHS2 (n = 33). 19406966 2009
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		0.680 GeneticVariation disease UNIPROT NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096 2000
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
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 CLINVAR Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation. 19067903 2008