WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: THROMBOCYTOPENIA 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs132630269
rs132630269
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs132630270
rs132630270
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557006354
rs1557006354
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs139265251
rs139265251
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		C 0.700 CausalMutation CLINVAR A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4. 16562789 2006
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 28623282 2017
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 25792466 2015
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875 2009
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875 2009
dbSNP: rs139265251
rs139265251
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		C 0.700 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875 2009
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875 2009
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 23033889 2013
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986 2004
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986 2004
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910 2012
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910 2012
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Defective thymic output in WAS patients is associated with abnormal actin organization. 28931895 2017
dbSNP: rs1557007123
rs1557007123
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.700 CausalMutation CLINVAR Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature. 25332606 2014
dbSNP: rs139265251
rs139265251
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		C 0.700 CausalMutation CLINVAR Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. 23160469 2013
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT 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
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 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
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 21185603 2011
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 21185603 2011