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: rs1057520700
rs1057520700
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0000731
Disease:
Abdomen distended 		C 0.700 CausalMutation CLINVAR
dbSNP: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0340970
Disease:
Congenital neutropenia 		0.010 GeneticVariation BEFREE A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported. 16804117 2006
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0023530
Disease:
Leukopenia 		0.010 GeneticVariation BEFREE A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 19006568 2009
dbSNP: rs1057520700
rs1057520700
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0025222
Disease:
Melena 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0026985
Disease:
Myelodysplasia 		0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175 2010
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175 2010
dbSNP: rs387906717
rs387906717
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0027947
Disease:
Neutropenia 		0.010 GeneticVariation BEFREE A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 19006568 2009
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: rs132630274
rs132630274
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		C 0.810 CausalMutation CLINVAR
dbSNP: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 23033889 2013
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042 2010
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 9326235 1997
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 15284122 2004
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. 10202051 1999
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 22523910 2012
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 17213309 2007
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. 8682510 1996
dbSNP: rs1557006239
rs1557006239
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 21185603 2011