| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. | 22258522 | 2012 |
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|
0.810 | GeneticVariation | UNIPROT | Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. | 18950742 | 2008 |
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|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
0.710 | GeneticVariation | GWASDB | Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷). | 24667120 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | NAD Deficiency, Congenital Malformations, and Niacin Supplementation. | 28792876 | 2017 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | 28807008 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. | 24789864 | 2014 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. | 22702953 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. | 20037586 | 2010 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. | 20037588 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |