CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
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 		0.400 GeneticVariation disease LHGDN Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. 17464953 2007
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.400 Biomarker disease BEFREE BMSi was correlated with chitotriosidase, the marker of GD activity. 28263001 2017
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.400 Biomarker disease BEFREE To our knowledge, beta-thalassemia is hitherto the only disorder in which an increase of plasma chitotriosidase, comparable to that seen in Gaucher disease, may occur. 10349508 1999
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.400 Biomarker disease BEFREE No correlation was found between TNF-alpha genotypes and chitotriosidase levels, a putative biochemical marker for Gaucher disease severity. 15919211 2005