Skip to main content
. 2019 Jul 5;15(7):e1007078. doi: 10.1371/journal.pcbi.1007078

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.