Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
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
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615

2016
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287

2016
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. 25694107

2015
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. 27148570

2015
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo mutations in schizophrenia implicate synaptic networks. 24463507

2014
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. 23375656

2013
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		CA 0.700 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
dbSNP: rs1553212626
rs1553212626
POGZ
CUI: C0026827
Disease: Muscle hypotonia
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