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: 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: 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: 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. 25782667 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.060 GeneticVariation group 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.010 GeneticVariation disease BEFREE The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip. 25131214 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 GeneticVariation disease BEFREE This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1. 22228009 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
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: 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.400 Biomarker disease BEFREE This finding seemed interesting, given recent discoveries on the role of another Patched-domain containing gene (PTCHD1) in ASD. 21439084 2011
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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.060 GeneticVariation group BEFREE We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. 21091464 2011