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: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057517845
rs1057517845
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057520700
rs1057520700
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057520700
rs1057520700
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0000731
Disease:
Abdomen distended 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057520700
rs1057520700
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0025222
Disease:
Melena 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 21771083 2011
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome. 16091449 2005
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 20173115 2010
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. 11298372 2001
dbSNP: rs1064793293
rs1064793293
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.710 GeneticVariation CLINVAR Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. 17390083 2007
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.710 GeneticVariation 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: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986 2004
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.710 GeneticVariation CLINVAR WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 14612666 2003
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.710 GeneticVariation CLINVAR Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. 12437929 2002
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		C 0.710 GeneticVariation 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 CausalMutation CLINVAR WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 17213309 2007
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 CausalMutation CLINVAR A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene. 18162713 2007
dbSNP: rs132630268
rs132630268
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.710 CausalMutation CLINVAR Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 8528198 1995