Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.400 GeneticVariation disease BEFREE We also found a novel ASD-associated deletion of PTCHD1-AS exon 3 and showed that exon 3 loss altered PTCHD1-AS splicing without affecting expression of the neighboring PTCHD1 coding gene. 31540669 2020
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.400 Biomarker disease BEFREE We next determined possible involvement of the kynurenine pathway (KP) metabolites in neurodevelopmental disorders in Ptchd1 KO mice and assessed the potential of KP metabolites as biomarkers for ADHD and/or ASD. 31515500 2019
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.400 GeneticVariation disease 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
0.400 GeneticVariation disease BEFREE Recently, gene mutations in patched domain containing 1 (PTCHD1) have been found in ~1% of patients with ID and ASD. 27007844 2016
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.400 GeneticVariation disease 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
0.400 GeneticVariation disease 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
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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
0.400 Biomarker disease 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
0.400 GeneticVariation disease 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
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
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
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