Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995). 30241959 2019
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Podocin related mutations are not too much associated with SRNS in adults, but we should consider the possibility of TRPC6 gene mutation in this population. 31529341 2019
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE This study aimed to screen for podocin mutations in SRNS Egyptian children and their parents. 28385484 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE NPHS2, encoding podocin, is the major gene implicated in steroid-resistant nephrotic syndrome. 30260545 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene <i>NPHS2</i> are a common cause of hereditary steroid-resistant nephrotic syndrome. 29382718 2018
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. 27885584 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Mutation analysis was carried out by direct sequencing of the entire NPHS2 gene (eight exons) using specific primers in 200 INS (100 SRNS and 100 steroid sensitive) children and 100 healthy controls. 26820844 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE The most common mutated genes were ADCK4 (6.67%), NPHS1 (5.83%), WT1 (5.83%), and NPHS2 (3.33%), and the difference in the frequencies of ADCK4 and NPHS2 mutations between this study and a study on monogenic causes of SRNS in the largest international cohort of 1,783 different families was significant. 28204945 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. 27573339 2017
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS. 26668027 2016
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. 25349199 2015
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE In conclusion, NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants. 25112471 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE Mutations in NPHS2, which encodes for podocin, an integral membrane protein of the glomerular epithelial cells (podocytes), represent a frequent cause of steroid-resistant nephrotic syndrome worldwide. 24674236 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). 25501161 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Results indicate possible clustering of causative NPHS2 mutations in FSGS-proven SRNS with onset before age one year old, and provide additional evidence that patients with childhood steroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis should first undergo analysis of NPHS2 coding sequence and WT1 exons 8 and 9 and surrounding exon/intron boundary sequences, followed by gender genotyping. 24856380 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Mutations in the NPHS2 gene are a major cause of steroid-resistant nephrotic syndrome, a severe human kidney disorder. 24596097 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. 24509478 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis. 24715228 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%). 24519673 2014
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. 23515051 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Mutations of NPHS2 gene are frequent among Iranian children with SRNS. 24072147 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE Podocin is a key protein involved in the pathogenesis of steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis (FSGS) and is characterized by a high rate of early recurrence after renal transplantation (RTx) in children and adults. 23982418 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 GeneticVariation disease BEFREE Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations. 24072153 2013
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
0.100 Biomarker disease BEFREE Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. 23913389 2013