PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease BEFREE Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. 29118110 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease CTD_human Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders. 21091464 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease BEFREE Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 GeneticVariation disease BEFREE Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibility gene, which may also contribute to the phenotype. 21114665 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease HPO