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: C0027726
Disease:
Nephrotic Syndrome 		0.060 GeneticVariation BEFREE In contrast, a patient who carries the R229Q variant in combination with a pathogenic variant in exons 1 to 6 is unlikely to develop nephrotic syndrome. 30241959 2019
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
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome. 29382718 2018
dbSNP: rs61747728
rs61747728
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C0017668
Disease:
Focal glomerulosclerosis 		0.090 GeneticVariation BEFREE In this paper, we present the currently known pathogenic and benign associations, and show that a rare p.R229Q association can be considered pathogenic if the variant in trans meets the following criteria; it affects the 270-351 residues and alters but does not disrupt the oligomerization, its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis, but is expected to be rare in the general population (<1:10<sup>6</sup> ). 30260545 2018
dbSNP: rs1187796947
rs1187796947
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3501848
Disease:
Nephrosis, congenital 		0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071 2018
dbSNP: rs1272948499
rs1272948499
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
dbSNP: rs1272948499
rs1272948499
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.700 GeneticVariation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
dbSNP: rs1462028977
rs1462028977
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs1462028977
rs1462028977
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs528833893
rs528833893
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		CA 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.010 GeneticVariation BEFREE The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. 29049388 2017
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. 29049388 2017
dbSNP: rs967339926
rs967339926
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C1868672
Disease:
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
dbSNP: rs967339926
rs967339926
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.700 GeneticVariation CLINVAR Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 26668027 2016
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: rs530318579
rs530318579
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		T 0.800 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
dbSNP: rs74315342
rs74315342
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs74315345
rs74315345
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs74315346
rs74315346
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs74315347
rs74315347
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs74315348
rs74315348
Entrez Id: 7827;126859
Gene Symbol: NPHS2;AXDND1
NPHS2;AXDND1
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		0.800 GeneticVariation UNIPROT NPHS2 mutations account for only 15% of nephrotic syndrome cases. 26420286 2015
dbSNP: rs748812981
rs748812981
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2
CUI: C3496337
Disease:
Idiopathic Nephrotic Syndrome 		A 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015