NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833912
rs386833912
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.800 CausalMutation CLINVAR Treatment and outcome of congenital nephrotic syndrome. 29474669 2019
dbSNP: rs114896482
rs114896482
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994 2019
dbSNP: rs2071327
rs2071327
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		0.010 GeneticVariation BEFREE The frequencies of the four synonymous mutations (c.C294T [p.I98I], c.C2223T [p.T741 T], c.C2289T [p.V763 V], c.G3315A [p.S1105S]) were much higher in FSGS patients than in controls. 31216994 2019
dbSNP: rs4806213
rs4806213
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		0.010 GeneticVariation BEFREE The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. 31216994 2019
dbSNP: rs447707
rs447707
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C1561643
Disease:
Chronic Kidney Diseases 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs447707
rs447707
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs386833895
rs386833895
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital 		0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551 2018
dbSNP: rs778552202
rs778552202
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
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: rs962888148
rs962888148
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital 		0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551 2018
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 28117080 2017
dbSNP: rs34124941
rs34124941
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		TC 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: rs386833932
rs386833932
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs386833932
rs386833932
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 28780565 2017
dbSNP: rs762184939
rs762184939
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 28392951 2017
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 28204945 2017
dbSNP: rs115308424
rs115308424
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022739
Disease:
Klippel-Trenaunay-Weber Syndrome 		0.010 GeneticVariation BEFREE Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 28059119 2017
dbSNP: rs115308424
rs115308424
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403548
Disease:
Salcedo syndrome 		0.010 GeneticVariation BEFREE Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). 28059119 2017
dbSNP: rs35423326
rs35423326
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403440
Disease:
Thin basement membrane disease 		0.010 GeneticVariation BEFREE Genotyping for two high-scored variants in 103 TBMN adult patients with founder mutations who were classified as mildly or severely affected, pointed to an association with variant NEPH3-V353M (filtrin). 28334007 2017
dbSNP: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
dbSNP: rs138656762
rs138656762
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.800 CausalMutation CLINVAR Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. 27019444 2016
dbSNP: rs139598219
rs139598219
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
dbSNP: rs142008044
rs142008044
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
dbSNP: rs143092783
rs143092783
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
dbSNP: rs267606917
rs267606917
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016