DisGeNET - a database of gene-disease associations

Denys-Drash Syndrome, C0950121

Variant: rs587776576 ×

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:

rs587776576

WT1

0.700

CausalMutation

CLINVAR

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

23515051

2013

dbSNP:

rs587776576

WT1

0.700

CausalMutation

CLINVAR

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

10762296

2000

dbSNP:

rs587776576

WT1

0.700

CausalMutation

CLINVAR

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

9499425

1998

dbSNP:

rs587776576

WT1

0.700

CausalMutation

CLINVAR

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

9398852

1997

dbSNP:

rs587776576

WT1

0.700

CausalMutation

CLINVAR

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

1302008

1992