HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Disease: Cleft upper lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 GeneticVariation disease BEFREE Mice carrying compound mutations in hedgehog acyltransferase (Hhat) and patched1 (Ptch1) exhibited perturbations in the SHH gradient during frontonasal development, which led to hypoplastic nasal process outgrowth, epithelial seam persistence, and cleft lip. 24590292 2014