NPHS2, NPHS2 stomatin family member, podocin, 7827

N. diseases: 86; N. variants: 67
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. 26138234 2015
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733 2015
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation BEFREE Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. 24509478 2014
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. 24227627 2014
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. 24509478 2014
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population. 23645318 2013
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. 23913389 2013
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. 23800802 2013
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 23242530 2013
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. 24072147 2013
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185 2012
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. 22578956 2012
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. 20947785 2011
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. 19145239 2009
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR NPHS2 variation in focal and segmental glomerulosclerosis. 18823551 2008
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. 17899208 2007
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. 15253708 2004
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.810 GeneticVariation CLINVAR NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671 2002
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. 12464671 2002
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.810 GeneticVariation UNIPROT NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. 10742096 2000
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.800 CausalMutation CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718 2018