NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Nephrosis, congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833945
rs386833945
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C3501848
Disease:
Nephrosis, congenital 		A 0.700 GeneticVariation CLINVAR
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: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C3501848
Disease:
Nephrosis, congenital 		0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976 2015