DisGeNET - a database of gene-disease associations

Nephrotic Syndrome, C0027726

Variant: rs267606919 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267606919

NPHS1

0.700

CausalMutation

CLINVAR

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

18503012

2008

dbSNP:

rs267606919

NPHS1

0.700

CausalMutation

CLINVAR

Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

16518627

2006

dbSNP:

rs267606919

NPHS1

0.700

CausalMutation

CLINVAR

Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

11854170

2002