CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
Disease: Wolman Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		0.020 AlteredExpression disease BEFREE Our purpose was to explore the utility of plasma chitotriosidase activity (ChT) and CCL18/PARC concentration in addition to LLP to identify LALD patients in an observational retrospective study of two different sample collections. 31004967 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		0.020 AlteredExpression disease BEFREE Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. 10551400 1999