WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: Wiskott-Aldrich Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 19817875 2009
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 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 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999