Table 1. Examples of Cardigan predictions using 2013 data.
Disease | 2013 Status | Gene | Ranking | Paper |
---|---|---|---|---|
Fetal Akinesia Deformation Sequence (MIM:208150) | Charted | MUSK | 1 | Tan-Sindhunata et al. (2015) [42] |
Schimmelpenning-Feuerstein-Mims syndrome (MIM:163200) | Charted | NRAS | 1 | Lim et al. (2014) [43] |
Familial Retinal Arteriolar Tortuosity (MIM:180000) | Uncharted | COL4A1 | 5 | Zenteno et al. (2014) [44] |
Ablepharon-macrostomia syndrome (MIM:200110) | Uncharted | TWIST2 | 10 | Marchegiani et al. (2015) [45] |
All the presented diseases appeared in the 2013 OMIM database and already had multiple papers associated with them, describing clinical features, inheritance or molecular genetics. However, in 2013 OMIM did not include the associations with genes shown in the third column, as they first appeared in reference shown in the last column. The position of the gene on the Cardigan predicted ranking is also shown.