Disease: Lipoidosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.040 GeneticVariation disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. 28623566 2017
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.040 GeneticVariation disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. 10775536 2000
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.040 GeneticVariation disease BEFREE Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by mutations in the cytochrome P450(27) (CYP27) gene. 8728324 1996
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.040 GeneticVariation disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a rare recessive inherited lipid storage disease that was first described by Van Bogaert. 1817043 1991