CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
Disease: Niemann-Pick Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		0.020 AlteredExpression group BEFREE Plasma chitotriosidase activity is used to diagnose and monitor some forms of lysosomal storage disorders, such as Gaucher's and Niemann-Pick disease. 26624962 2016
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		0.020 AlteredExpression group BEFREE Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693-20982) in Gaucher disease (GD); 780 (465-1298) in SMD (sphingomyelinase deficiency); 925 (319-1215) in NPC and 50 (29-54) in patients with miscellaneous diseases. 16972172 2006