TABLE 5.
Top Ten of Enriched Mammalian Phenotype Terms*
| Mammalian Phenotype ID |
Description | CNV Type |
Cohort 1 |
Cohort 2 |
Total | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Control | p-value | Case | Control | p-value | p-value | FDR | ||||
| MP:0005621 | Abnormal Cell Physiology | Dup | 49 | 166 | 4.06E-02 | 65 | 129 | 9.08E-11 | 5.48E-09 | 3.30E-06 | |
| MP:0002080 | Prenatal Lethality | Dup | 40 | 129 | 3.69E-02 | 57 | 106 | 3.60E-10 | 5.64E-09 | 3.30E-06 | |
| MP:0005397 | Hematopoietic System Phenotype | Dup | 48 | 149 | 1.16E-02 | 50 | 117 | 1.30E-06 | 4.51E-07 | 1.12E-04 | |
| MP:0008247 | Abnormal Mononuclear Cell Morphology |
Dup | 38 | 100 | 2.66E-03 | 33 | 71 | 2.53E-05 | 6.20E-07 | 1.38E-04 | |
| MP:0002619 | Abnormal Lymphocyte Morphology |
Dup | 37 | 86 | 3.91E-04 | 26 | 60 | 6.85E-04 | 1.04E-06 | 1.98E-04 | |
| MP:0011102 | Partial Embryonic Lethality | All | 5 | 2 | 2.41E-03 | 7 | 5 | 8.71E-04 | 7.33E-06 | 2.91E-04 | |
| MP:0003945 | Abnormal Lymphocyte Physiology | Dup | 23 | 63 | 2.94E-02 | 27 | 44 | 2.95E-06 | 2.21E-06 | 3.33E-04 | |
| MP:0002221 | Abnormal Lymph Organ Size | Dup | 25 | 69 | 2.61E-02 | 26 | 42 | 4.03E-06 | 2.96E-06 | 3.82E-04 | |
| MP:0001648 | Abnormal Apoptosis | Dup | 28 | 81 | 2.81E-02 | 31 | 59 | 8.85E-06 | 4.21E-06 | 5.12E-04 | |
| MP:0002722 | Abnormal Immune System Organ Morphology |
Dup | 29 | 86 | 3.26E-02 | 30 | 55 | 5.33E-06 | 4.66E-06 | 5.57E-04 | |
*
Full list in Table S7