Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN Active involvement of Robo1 and Robo4 in filopodia formation and endothelial cell motility mediated via WASP and other actin nucleation-promoting factors. 18948384

2009

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 AlteredExpression LHGDN Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia, intermittent thrombocytopenia and neutropenia. 18043243

2008

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN Hierarchical regulation of WASP/WAVE proteins. 18995840

2008

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. 17703096

2008

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN Identification of a new WASP and FKBP-like (WAFL) protein in inflammatory bowel disease: a potential marker gene for ulcerative colitis. 18654788

2008

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN In the present study, we investigated two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as having XLT and WAS, respectively. 17390083

2007

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. 17400488

2007

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 16804117

2006

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals. 16372137

2006

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN NMR analyses of the activation of the Arp2/3 complex by neuronal Wiskott-Aldrich syndrome protein. 16285728

2005

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. 16002738

2005

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN The nucleotide switch in Cdc42 modulates coupling between the GTPase-binding and allosteric equilibria of Wiskott-Aldrich syndrome protein. 15821030

2005

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 AlteredExpression LHGDN Mutations of the Wiskott-Aldrich syndrome protein (WASP) gene result either in the classic Wiskott-Aldrich syndrome (WAS) or in a less severe form, X-linked thrombocytopenia (XLT). 12969986

2004

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. 12727931

2003

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 PosttranslationalModification LHGDN Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein. 12235133

2002

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 AlteredExpression LHGDN Activation of Wiskott-Aldrich syndrome protein and its association with other proteins by stromal cell-derived factor-1alpha is associated with cell migration in a T-lymphocyte line. 12135674

2002

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Sequencing of the WASP gene showed that the patient was heterozygous for the splice site mutation previously found in one of her relatives with WAS. 12351383

2002

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome. 12073025

2002

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 GeneticVariation LHGDN Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections. 11793485

2002

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN Motility determinants in WASP family proteins. 12429845

2002