POGZ, pogo transposable element derived with ZNF domain, 23126
N. diseases: 3; N. variants: 68
Source: CURATED ×
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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C | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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TA | 0.700 | CausalMutation | CLINVAR | POGZ truncating alleles cause syndromic intellectual disability. | 26739615 | 2016 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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TG | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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TA | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | ||||||
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G | 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 | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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AG | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |