WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 Biomarker disease BEFREE Moreover, mutational activation of WASP has been associated with X-linked neutropenia. 29316027 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 GeneticVariation disease BEFREE A single XR PID is caused by gain-of-function (GOF) mutations (WASP-related neutropenia, 2001). 25645939 2015
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 GeneticVariation disease BEFREE Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. 20513746 2010
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 GeneticVariation disease LHGDN Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 16804117 2006
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 GeneticVariation disease BEFREE Mutations of the gene encoding the Wiskott-Aldrich syndrome protein (WASP) have been previously shown to be responsible for classical Wiskott-Aldrich syndrome (WAS), isolated X-linked thrombocytopenia (XLT) and severe congenital X-linked neutropenia. 15203732 2004
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 GeneticVariation disease BEFREE Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. 11877312 2002
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.160 Biomarker disease HPO