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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. 27264129 2011
dbSNP: rs782290433
rs782290433
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: rs782290433
rs782290433
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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Clinical course of patients with WASP gene mutations. 12969986 2004
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 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: C0043194
Disease:
Wiskott-Aldrich Syndrome 		A 0.700 CausalMutation CLINVAR Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 8528198 1995