WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: Congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.320 AlteredExpression disease BEFREE Moreover, these data categorize XLN as an atypical congenital neutropenia in which constitutive activation of WASp in tissue neutrophils compensates for reduced myelopoiesis. 30124469 2018
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.320 Biomarker disease GENOMICS_ENGLAND A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported. 16804117 2006
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.320 GeneticVariation disease BEFREE A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported. 16804117 2006