WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: THROMBOCYTOPENIA 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation BEFREE Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia. 28641574 2017
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 11877312 2002
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 11167787 2001
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 10447259 1999
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 7795648 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		0.810 GeneticVariation UNIPROT WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 8528199 1995
dbSNP: rs132630273
rs132630273
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease:
THROMBOCYTOPENIA 1 (disorder) 		T 0.810 CausalMutation CLINVAR