PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease CTD_human Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.400 SusceptibilityMutation disease CLINVAR
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.400 GeneticVariation disease CLINVAR
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. 27007844 2016
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.300 Biomarker disease CTD_human Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GeneticVariation disease ORPHANET Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
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
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GeneticVariation disease ORPHANET Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.210 GeneticVariation disease BEFREE TRN-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of SK channel activity. 27007844 2016
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		0.210 Biomarker disease MGD TRN-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of SK channel activity. 27007844 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.120 Biomarker disease BEFREE Our findings indicate that Ptchd1 KO mice can be used as an animal model of human ADHD and/or ASD, and KP metabolites are potential diagnostic biomarkers for neurodevelopmental disorders. 31515500 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.120 GeneticVariation disease BEFREE TRN-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of SK channel activity. 27007844 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.120 Biomarker disease HPO
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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. 25782667 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015