PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Deleterious mutations in patchd1 domain containing 1 (PTCHD1) gene have been identified in patients with intellectual disability and/or autism spectrum disorder (ASD). 31515500 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. 28416808 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Individuals with PTCHD1 deletion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID. 27007844 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE No rare missense PTCHD1 variants were found in our ASD cohort and only one was identified in the ID sample. 25782667 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group BEFREE Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group CTD_human Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. 20844286 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation group BEFREE Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. 20844286 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group HPO