| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | phenotype | CLINVAR | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | 28288113 | 2017 | ||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. | 27075689 | 2016 | ||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | CausalMutation | phenotype | CLINVAR | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | GeneticVariation | phenotype | CLINVAR | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO | |||||||
|
0.100 | Biomarker | phenotype | HPO |