Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. | 28400947 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. | 28400947 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. | 27158779 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. | 27158779 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. | 21473986 | 2011 |