CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
Disease: Blood spots ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732730
Disease: Blood spots
Blood spots 		0.030 Biomarker disease BEFREE Chitotriosidase in serum and lyso-sphingomyelin in dried blood spots decreased with olipudase alfa treatment, suggesting utility as biomarkers for monitoring treatment efficacy. 29305734 2018
CUI: C4732730
Disease: Blood spots
Blood spots 		0.030 GeneticVariation disease BEFREE Genotyping was performed to identify the 24 bp duplication in exon 10 of CHIT1 using DNA extracted from peripheral leukocytes or dried blood spots. 24621582 2014
CUI: C4732730
Disease: Blood spots
Blood spots 		0.030 GeneticVariation disease BEFREE For 79 blood spots with chitotriosidase >3.4mg/l, a follow-up one-plex chitotriosidase assay enabled identification of all nine Gaucher patients. 21415080 2011