rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
28480548
2017
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
POGZ truncating alleles cause syndromic intellectual disability.
26739615
2016
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
26942287
2016
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
25694107
2015
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
27148570
2015
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Genome sequencing identifies major causes of severe intellectual disability.
24896178
2014
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
De novo mutations in schizophrenia implicate synaptic networks.
24463507
2014
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
23375656
2013
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22495311
2012
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
De novo gene disruptions in children on the autistic spectrum.
22542183
2012
rs1553212626
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
Muscle hypotonia
CA
0.700
CausalMutation
CLINVAR
Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.
9862965
1999