| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
0.200 | CausalMutation | CLINVAR | |||||||||||
|
|
0.130 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | GeneticVariation | CLINVAR | First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. | 9452087 | 1998 |
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|
|
0.110 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.110 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | 29469822 | 2018 |
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|
|
0.100 | CausalMutation | CLINVAR | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. | 27075689 | 2016 |
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|
|
0.100 | CausalMutation | CLINVAR | A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. | 26220973 | 2015 |
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|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | CausalMutation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR | |||||||||||
|
|
0.100 | GeneticVariation | CLINVAR |