Disease: Neutropenia, Severe Congenital, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		0.300 Biomarker disease GENOMICS_ENGLAND Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 21205863 2011