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: rs367976914
rs367976914
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs367986918
rs367986918
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs373835033
rs373835033
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
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 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
dbSNP: rs386833933
rs386833933
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs386833942
rs386833942
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
dbSNP: rs386833943
rs386833943
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 25407002 2015
dbSNP: rs386833943
rs386833943
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		C 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs386833951
rs386833951
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
dbSNP: rs386833955
rs386833955
Entrez Id: 4868;84063
Gene Symbol: NPHS1;KIRREL2
NPHS1;KIRREL2
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		G 0.700 CausalMutation CLINVAR Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 25720465 2015
dbSNP: rs386833959
rs386833959
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs387906357
rs387906357
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs753476209
rs753476209
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs763162233
rs763162233
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		0.700 GeneticVariation UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 25729976 2015
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 25349199 2015
dbSNP: rs140018064
rs140018064
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Functional analysis of NPHS1 mutations in Japanese patients. 24142548 2014
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. 24742477 2014
dbSNP: rs386833918
rs386833918
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 CausalMutation CLINVAR Functional analysis of NPHS1 mutations in Japanese patients. 24142548 2014
dbSNP: rs386833959
rs386833959
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Functional analysis of NPHS1 mutations in Japanese patients. 24142548 2014
dbSNP: rs763972372
rs763972372
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 25501161 2014
dbSNP: rs150038620
rs150038620
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 GeneticVariation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
dbSNP: rs150038620
rs150038620
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		T 0.700 CausalMutation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 GeneticVariation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013
dbSNP: rs150855173
rs150855173
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0403399
Disease:
Finnish congenital nephrotic syndrome 		A 0.700 CausalMutation CLINVAR Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 23949594 2013