POGZ, pogo transposable element derived with ZNF domain, 23126
N. diseases: 117; N. variants: 68
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TGATTGGCA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. | 27148570 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. | 25694107 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. | 26942287 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 22495311 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | De novo gene disruptions in children on the autistic spectrum. | 22542183 | 2012 |