Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. | 16251273 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. | 24702427 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Rare variants in NR2F2 cause congenital heart defects in humans. | 24702954 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. | 21172461 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical application of whole-exome sequencing across clinical indications. | 26633542 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. | 15750894 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence and architecture of de novo mutations in developmental disorders. | 28135719 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. | 18371933 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. | 10215630 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor. | 18798693 | 2008 |