Disease: SQUALENE SYNTHASE DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.100 GeneticVariation disease CLINVAR Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962 2018
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		0.100 CausalMutation disease CLINVAR