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: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome. 20574068 2010
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 11793485 2002
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. 9713366 1998
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients. 9683546 1998
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT X-linked Wiskott-Aldrich syndrome in a girl. 9445409 1998
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods. 9098856 1997
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. 9126958 1997
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT 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: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. 7753869 1995
dbSNP: rs132630272
rs132630272
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease:
Wiskott-Aldrich Syndrome 		0.700 GeneticVariation UNIPROT Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. 8528198 1995