WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: Neutropenia, Severe Congenital, X-Linked ×
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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: 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
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: 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: rs782290433
rs782290433
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: rs782290433
rs782290433
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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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: 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: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		A 0.700 CausalMutation CLINVAR WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs782290433
rs782290433
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease:
Neutropenia, Severe Congenital, X-Linked 		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