CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
Disease: Gaucher Disease, Type 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		0.300 Biomarker disease CTD_human Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. 17464953 2007