Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation 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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation 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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation BEFREE Individuals with PTCHD1 deletion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID. 27007844

2016
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation BEFREE Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214

2015
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation BEFREE No rare missense PTCHD1 variants were found in our ASD cohort and only one was identified in the ID sample. 25782667

2015
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker BEFREE Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464

2011
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker 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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 GeneticVariation 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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO