Table 5. List of MyGene2 patients and g2p pairs found co-occurring in a 2022 BOCC cluster and prediction results from the models trained for four different thresholds.
The final column denotes the model with the lower threshold that predicted the cluster to be significant.
| Patient | Cluster-Id | Gene | HPO Term Name | Best level of prediction |
|---|---|---|---|---|
| 1292 | paris.walktrap.2022:1369 | TNNT3 | Arthrogryposis multiplex congenita | p < 0.05 |
| 151 | paris.infomap.2022:973 | PCOLCE2 | Myopia | p < 0.05 |
| 1930 | paris.cesna.2022:5864 | NBEA | Seizure | p < 0.05 |
| 2197 | paris.cesna.2022:17456 | C17orf62 | Fever | p < 0.05 |
| 2197 | paris.cesna.2022:17456 | C17orf62 | Recurrent pneumonia | p < 0.05 |
| 2197 | paris.cesna.2022:17456 | C17orf62 | Splenomegaly | p < 0.05 |
| 2197 | paris.cesna.2022:17456 | C17orf62 | Lymphadenopathy | p < 0.05 |
| 2234 | paris.cesna.2022:15933 | DROSHA | Microcephaly | p < 0.05 |
| 2525 | paris.cesna.2022:5117 | FMN1 | Short stature | p < 0.05 |
| 2584 | paris.cesna.2022:4308 | PYROXD1 | Myopathy | p < 0.05 |
| 2649 | paris.walktrap.2022:1626 | BCL6B | Alopecia | p < 0.05 |
| 27 | paris.cesna.2022:3984 | SCN2A | Seizure | p < 0.05 |
| 2748 | paris.cesna.2022:18491 | DROSHA | Dysphagia | p < 0.05 |
| 347 | paris.cesna.2022:11079 | GUCY1A3 | Hypertension | p < 0.05 |
| 8 | paris.cesna.2022:2747 | ACTC1 | Low-set ears | p < 0.05 |
| 8 | paris.cesna.2022:13667 | ACTC1 | Short stature | p < 0.05 |
| 8 | paris.cesna.2022:2747 | ACTC1 | Ventricular septal defect | p < 0.05 |
| 877 | paris.cesna.2022:11542 | B9D2 | Ataxia | p < 0.05 |
| 878 | paris.cesna.2022:11542 | B9D2 | Ataxia | p < 0.05 |