PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Disease: Macrostomia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.300 GermlineCausalMutation disease ORPHANET A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. 19208383 2009