PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Autistic behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.110 GeneticVariation disease BEFREE Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors. 25131214 2015
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.110 Biomarker disease HPO