WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disorder caused by mutations in the WAS protein (WASP) gene. 25864580 2015
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE While the WASP gene defects responsible for isolated thrombocytopenia and other mild presentations of WAS do not appear distinct from those resulting in severe WAS, these data indicate that analysis of WASP gene mutation provides a valuable tool for distinguishing the spectrum of WAS patients and the subset of males with isolated thrombocytopenia who represent mild cases of WAS. 8528198 1995
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE All XLT patients (n = 3) and one WAS patient had a missense mutation at the PH domain of WASP. 10729999 2000
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS. 29421274 2018
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 AlteredExpression disease BEFREE As a whole, the degree of impairment of WASP protein expression in WAS/XLT seems to correlate with anomalies of cytoskeletal organization, strongly supporting a role for WASP in the regulation of F-actin polymerization. 9713366 1998
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE 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
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE The Wiskott-Aldrich syndrome protein (WASp) is mutated in the severe immunodeficiency disease Wiskott-Aldrich syndrome (WAS). 15383456 2005
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Wiskott-Aldrich syndrome protein (WASP)-interacting protein (WIP), specifically binds to a region of WASp that is frequently mutated in Wiskott-Aldrich syndrome. 10706671 2000
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE 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
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Wiskott-Aldrich syndrome (WAS) and X-linked thrombocy topenia (XLT) are caused by mutations of the WAS protein (WASP) gene. 11213795 2000
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT. 15203732 2004
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in WASP result in a wide spectrum of clinical manifestations ranging from the relatively mild X-linked thrombocytopenia to the classic full-blown WAS phenotype characterized by thrombocytopenia, immunodeficiency, eczema, and high susceptibility to developing tumors and autoimmune manifestations. 19351959 2009
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE 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
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia. 15469902 2004
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, and recurrent infections. 8069912 1994
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), characterized by chronic microthrombocytopenia with and without immunodeficiency, are caused by mutations of the WAS protein (WASP) gene. 14612666 2003
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 AlteredExpression disease BEFREE All phenotypic alterations observed in K562WASKO cells were alleviated upon expression of WAS following lentiviral transduction, confirming the role of WASP in these phenotypes. 23324327 2013
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. 11298372 2001
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE These results demonstrate that WASP plays a central role in the movements of lipid rafts and identify a potential mechanism underlying the T cell defect affecting WAS patients. 12196287 2002
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 Biomarker disease BEFREE The study identifies WASp as a novel effector of the nucleus-to-Golgi cell-survival pathway triggered by IR-induced DNA damage in cells of the hematolymphoid lineage and proposes an impaired GDR as a new cause for development of a "radiosensitive" form of immune dysregulation in patients with WAS. 31604087 2020
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Clinical manifestations, immunologic functions, and WASP gene sequencing and expressions were analyzed in WAS patients. 20232122 2010
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in WASp and most frequently associated with lymphoreticular tumors of poor prognosis. 30393584 2018
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome. 8988230 1996
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 GeneticVariation disease BEFREE Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. 10653325 2000