DisGeNET - a database of gene-disease associations

THROMBOCYTOPENIA 1 (disorder), C1839163

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:

rs2737799

WAS

0.010

GeneticVariation

BEFREE

We report on six female members of the same family carrying the mutated WAS allele p.V332A, which is known to be associated with XLT.

23689198

2013

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

21185603

2011

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

11793485

2002

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

20173115

2010

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

8595430

1995

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.

8528199

1995

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

8528198

1995

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met).

27264129

2011

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Clinical course of patients with WASP gene mutations.

12969986

2004

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

15284122

2004

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Defective thymic output in WAS patients is associated with abnormal actin organization.

28931895

2017

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

9326235

1997

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

26261240

2015

dbSNP:

rs782290433

WAS

0.800

CausalMutation

CLINVAR

Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

19817875

2009

dbSNP:

rs1057517845

WAS

0.700

CausalMutation

CLINVAR

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

[WASP gene mutation analysis of a family of X-linked thrombocytopenia].

20959042

2010

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

15284122

2004

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Clinical course of patients with WASP gene mutations.

12969986

2004

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

23033889

2013

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

9326235

1997

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

22523910

2012

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

10202051

1999

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

19817875

2009

dbSNP:

rs132630268

WAS

0.700

CausalMutation

CLINVAR

WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

17213309

2007

dbSNP:

rs1557006239

WAS

0.700

CausalMutation

CLINVAR

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

8682510

1996