Table 2 Phenotypic enrichment of SSADHD and high confidence similar disorders
From: PhenUMA: a tool for integrating the biomedical relationships among genes and diseases
HPO term | Name | Annotated diseases | Study | P-value | MIM diseases |
|---|---|---|---|---|---|
HP:0002197 | Generalized seizures | 70 | 13 | 4.87E-19 | (607628, 607681, 611364, 600669, 608096, 607631, 607208, 300423, 608217, 600131, 271980, 604827, 300088) |
HP:0002123 | Generalized myoclonic seizures | 27 | 6 | 2.62E-08 | (611364, 600669, 607631, 607208, 271980, 604827) |
HP:0002133 | Status epilepticus | 11 | 4 | 3.53E-06 | (608096, 607208, 271980, 300088) |
HP:0002392 | EEG with polyspike wave complexes | 4 | 3 | 1.35E-05 | (607681, 600669, 600131) |
HP:0000717 | Autism | 35 | 4 | 5.29E-04 | (606053, 238350, 209800, 271980) |
HP: 0000708 | Behavioural/Psychiatric Abnormality | 406 | 8 | 4.47E-03 | (143465, 606053, 238350, 167870, 209800, 271980, 300088, 190100) |
HP:0001311 | Neurophysiological abnormality | 83 | 4 | 1.65E-02 | (607681, 600669, 600131, 271980) |
HP:0000739 | Anxiety | 33 | 3 | 1.71E-02 | (167870, 271980, 190100) |