Disease: Craniofacial Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 GeneticVariation group BEFREE Our analysis confirmed that mutation of hmgcs1, which encodes the first enzyme in the cholesterol synthesis pathway, results in craniofacial abnormalities via defects in cranial neural crest cell differentiation. 28686747 2017