Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4751204
Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4751204
Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 		0.500 GermlineCausalMutation disease ORPHANET Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. 12093894 2002