HAX1, HCLS1 associated protein X-1, 10456

N. diseases: 59; N. variants: 9
Disease: Gaucher Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.010 GeneticVariation disease BEFREE We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. 30473482 2019