Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.300 Biomarker disease CLINGEN Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. 27007844 2016
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.300 Biomarker disease CLINGEN Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.300 Biomarker disease CLINGEN 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
0.300 Biomarker disease CLINGEN Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010