Source: CLINGEN

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 CLINGEN Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging. 23868979

2013
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS. 17250667

2007
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN The genotype of the original Wiskott phenotype. 17065640

2006
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome. 14566484

2003
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN The present molecular studies of six Japanese WAS patients identified five different mutations of WASP, including two novel mutations (45delG, 395insGGAGAT), the latter appearing to have occurred de novo. 10653325

2000
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. 9697838

1998
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker CLINGEN Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, and recurrent infections. 8069912

1994