PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Pervasive Development Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 GeneticVariation group BEFREE Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 Biomarker group BEFREE Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010