NPHS2, NPHS2 stomatin family member, podocin, 7827

N. diseases: 86; N. variants: 67
Disease: Steroid resistant nephrotic syndrome of childhood ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		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
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. 23800802 2013
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. 22080622 2012
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Mutations in the NPHS1 and NPHS2 genes are among the main causes of early-onset and familial steroid resistant nephrotic syndrome respectively. 22565185 2012
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE NPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients. 20947785 2011
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome. 21499232 2011
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE In Chinese children with steroid-resistant nephrotic syndrome (SRNS), it was reported that NPHS2 mutation was detected in 4.3%, which was lower than that in Caucasians (10-30%). 20442690 2010
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Since the identification of the NPHS2 gene, various investigators have demonstrated that its mutation is an important cause of steroid-resistant nephrotic syndrome. 19395786 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE In conclusion, podocin mutations do not appear to be a major cause of SRNS in Greek children, although the study cohort was small. 19371226 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. 19495806 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Adult-onset steroid-resistant NS has been described in patients heterozygous for a pathogenic NPHS2 mutation together with the p.R229Q variant. 19145239 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation. 19282856 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE The present study revealed the genotype of a Chinese pedigree with autosomal recessive (AR) SRNS and reported a novel disease-causing NPHS2 mutation. 20001346 2009
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 Biomarker disease BEFREE Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome. 18000687 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Seventy Korean children (39 girls, 31 boys) with SRNS underwent analysis for mutations of WT1 and NPHS2. 17934764 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Recessive podocin mutations were present in 18.1% (73 of 404) of families with SRNS, and 69.9% of these mutations were nonsense, frameshift, or homozygous R138Q. 18216321 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients. 18334793 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Knowledge of mutation rate of NPHS2 in different populations of SRNS patients facilitates the physician in planning a suitable genetic screening strategy for patients. 18543005 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Rare mutations in nephrosis 2 (NPHS2), encoding podocin, are found in patients with familial and sporadic steroid-resistant nephrotic syndrome and focal segmental glomerular sclerosis. 18499321 2008
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Mutational analysis of NPHS2 and WT1 was carried out in a single-center cohort of 20 children with FRNS/SDNS, ten children with uncomplicated SSNS (control), and 22 children with SRNS (control). 17216259 2007
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Mutations in the NPHS2 gene encoding the protein podocin have recently been found in a recessive form of steroid-resistant nephrotic syndrome. 16874699 2006
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE As such, the aim of this study was to screen for podocin mutations in Turkish patients with SRNS. 16810518 2006
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including focal segmental glomerulosclerosis. 16481888 2006
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.100 GeneticVariation disease BEFREE Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. 16291839 2006