PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5925760
rs5925760
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C2699541
Disease:
Cytokine Measurement
A 0.800 GeneticVariation GWASDB Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs5925760
rs5925760
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C2699541
Disease:
Cytokine Measurement
A 0.800 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026650
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026650
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026827
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026827
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026827
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026650
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026827
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026650
Disease:
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
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026827
Disease:
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
dbSNP: rs1555912049
rs1555912049
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0026650
Disease:
Movement Disorders
G 0.700 CausalMutation CLINVAR Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
dbSNP: rs1060499778
rs1060499778
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C4021085
Disease:
Abnormality of brain morphology
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555912102
rs1555912102
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0795888
Disease:
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
A 0.700 GeneticVariation CLINVAR
dbSNP: rs878854360
rs878854360
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0795888
Disease:
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs878854361
rs878854361
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0795888
Disease:
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs879255587
rs879255587
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C0795888
Disease:
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
CA 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs7052177
rs7052177
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C1510586
Disease:
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