PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Profound Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010