Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. | 28332779 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. | 25914204 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). | 22486404 | 2013 |