Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. | 29068549 | 2018 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. | 28332779 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. | 25914204 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. | 25908617 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). | 22486404 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. | 21473986 | 2011 |