| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. | 28991257 | 2017 | |||||||
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0.800 | GeneticVariation | UNIPROT | Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. | 24782409 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. | 17924340 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. | 17924340 | 2007 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. | 28991257 | 2017 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Clinical application of whole-exome sequencing across clinical indications. | 26633542 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). | 20413652 | 2010 | ||||||
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0.700 | GeneticVariation | UNIPROT | Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. | 17924340 | 2007 | |||||||
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0.700 | GeneticVariation | UNIPROT | Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. | 17924340 | 2007 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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CG | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Analysis of combined samples revealed a significant association in genotype and allele frequencies of rs181317402 T/G polymorphism between CHD cases in overall or ventricular septal defects or Tetralogy of Fallot and the control group. rs181317402 allele G polymorphism was significantly associated with a decreased risk of CHD. | 31171573 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | Luciferase activity assay showed that rs181317402 allele G significantly increased the basal and Nkx2.5-mediated activity of GDF1 promoter, while the two genetic mutations had the opposite effect. rs181317402 TG genotype was associated with significantly increased mRNA level of GDF1 compared with TT genotype in 18 CHD individuals. | 31171573 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | Analysis of combined samples revealed a significant association in genotype and allele frequencies of rs181317402 T/G polymorphism between CHD cases in overall or ventricular septal defects or Tetralogy of Fallot and the control group. rs181317402 allele G polymorphism was significantly associated with a decreased risk of CHD. | 31171573 | 2019 | |||||||
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0.010 | GeneticVariation | BEFREE | Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects. | 26656983 | 2015 |