WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
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) 		0.810 GeneticVariation BEFREE Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia. 28641574 2017
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312 2002
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787 2001
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		0.810 GeneticVariation BEFREE Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD). 11242115 2001
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		0.810 GeneticVariation UNIPROT Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD). 11242115 2001
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		C 0.810 CausalMutation CLINVAR
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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 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
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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 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
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 20173115 2010
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: 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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 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
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 11793485 2002
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312 2002
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787 2001
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.800 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235 1997
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 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