Table 4.
Phenotypic enrichment of OMIM diseases similar to SSADH Deficiency (OMIM 271980)
| Bonferroni corrected P-values | |||||||
|---|---|---|---|---|---|---|---|
| PhenUMA | Phenomizer | PhenomeNET | |||||
| Phenotypes | IC | Top 10 | Top 50 | Top 10 | Top 50 | Top 10 | Top 50 |
| Status epilepticus | 0,709 | 7,36E-03 | 1,49E-05 | 6,81E-01 | 5,83E-01 | 1 | 1,39E-01 |
| Absence seizures | 0,681 | 1,21E-02 | 6,75E-11 | 1,02E-02 | 1,91E-11 | 2,99E-01 | |
| Hyperkinesis | 0,658 | 1 | 1 | 1 | |||
| Hallucinations | 0,613 | 7,55E-01 | 1 | 1 | |||
| Generalized myoclonic seizures | 0,604 | 6,21E-04 | 2,30E-03 | 5,20E-04 | 6,52E-04 | 1 | 1 |
| Anxiety | 0,581 | 6,90E-02 | 6,47E-03 | 5,78E-02 | 4,79E-01 | ||
| Autism | 0,574 | 7,76E-02 | 1,51E-01 | 5,67E-01 | 1 | ||
| Psychosis | 0,565 | 1 | 6,61E-04 | 1 | 1 | 1 | |
| Generalized tonic-clonic seizures | 0,562 | 1,19E-09 | 3,54E-29 | 2,05E-05 | 2,20E-25 | 1,44E-13 | 1,26E-14 |
| Delayed speech and language development | 0,543 | 1 | 1 | 1 | 1 | ||
| Aggressive behavior | 0,540 | 1 | 6,50E-09 | 1 | 1 | 1 | |
| Hypokinesia | 0,491 | 1 | 1 | ||||
| EEG abnormality | 0,489 | 1 | 4,31E-14 | 1 | 5,47E-05 | 1 | 1 |
| Increased body weight | 0,486 | 1 | |||||
| Hyperactivity | 0,484 | 3,50E-03 | 1 | 1 | 1 | ||
| Hyporeflexia | 0,437 | 1 | 1 | 1,14E-01 | |||
| Motor delay | 0,420 | 1 | 1 | 1 | |||
| Ataxia | 0,317 | 1 | 1 | 1 | 8,27E-21 | ||
| Abnormality of eye movement | 0,307 | 8,75E-01 | 1,54E-01 | 1,10E-19 | |||
| Muscular hypotonia | 0,281 | 1 | 1 | 2,74E-07 | |||
| Intellectual disability | 0,214 | 1 | 1 | 8,65E-01 | 1,72E-03 | ||
| Abnormality of metabolism/homeostasis | 0,123 | 1 | 1 | 1 | 1 | 1 | 1 |
In bold, Bonferroni corrected P-values ≤0.05, hypergeometric tests.