rs5925760
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Cytokine Measurement
A
0.800
GeneticVariation
GWASDB
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
22610502
2012
rs5925760
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Cytokine Measurement
A
0.800
GeneticVariation
GWASCAT
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
22610502
2012
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
25782667
2015
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
25131214
2015
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
25782667
2015
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
25131214
2015
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
23871722
2013
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Movement Disorders
G
0.700
CausalMutation
CLINVAR
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
23871722
2013
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
21091464
2011
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
21091464
2011
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Muscle hypotonia
G
0.700
CausalMutation
CLINVAR
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
20844286
2010
rs1555912049
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
20844286
2010
rs1060499778
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Abnormality of brain morphology
C
0.700
GeneticVariation
CLINVAR
rs1555912102
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
A
0.700
GeneticVariation
CLINVAR
rs878854360
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
T
0.700
SusceptibilityMutation
CLINVAR
rs878854361
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
A
0.700
SusceptibilityMutation
CLINVAR
rs879255587
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
CA
0.700
SusceptibilityMutation
CLINVAR
rs7052177
×
Entrez Id:
139411
Gene Symbol:
PTCHD1
PTCHD1
Autism Spectrum Disorders
0.010
GeneticVariation
BEFREE
The case-control association study showed a significant association with rs7052177 (P=6.13E-4) in the ASD discovery sample that was replicated in an independent sample (P=0.03).
25782667
2015