TABLE 4.
Enriched mammalian phenotype
| ND-CTRD cohort |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ND-CTRD cohort 1 |
ND-CTRD cohort 2 |
DS-CTRD cohort |
Total |
|||||||||||
| Term | Description | CNV type | Case count | Control count | p valuea Cohort1 | Case count | Control count | p valuea Cohort2 | P_TOTAL ND-CTRD | Case count | Control count | p valuea DS-CTRD | P_TOTAL CTRD | FDRb |
| MP:0005621 | Abnormal cell physiology | Dup | 35 | 160 | 1.148E-02 | 34 | 123 | 5.016E-05 | 5.739E-06 | 60 | 20 | 3.805E-02 | 4.272E-08 | 2.770E-05 |
| MP:0002078 | Abnormal glucose homeostasis | Dup | 9 | 54 | 5.532E-01 | 14 | 44 | 4.097E-03 | 1.376E-02 | 38 | 9 | 1.822E-02 | 1.475E-07 | 6.667E-05 |
| MP:0000188 | Abnormal circulating glucose level | Dup | 7 | 34 | 3.254E-01 | 8 | 26 | 2.720E-02 | 2.794E-02 | 29 | 5 | 9.726E-03 | 2.512E-07 | 1.018E-04 |
| MP:0005076 | Abnormal cell differentiation | Dup | 10 | 45 | 1.421E-01 | 14 | 33 | 3.128E-04 | 4.755E-04 | 23 | 4 | 2.370E-02 | 4.099E-06 | 6.182E-04 |
| MP:0002163 | Abnormal gland morphology | Dup | 20 | 110 | 2.122E-01 | 25 | 78 | 7.133E-05 | 4.726E-04 | 40 | 11 | 3.466E-02 | 9.754E-06 | 8.908E-04 |
| MP:0004937 | Dilated heart | Dup | 5 | 15 | 7.886E-02 | 8 | 16 | 2.908E-03 | 9.758E-04 | 13 | 1 | 2.402E-02 | 1.113E-05 | 9.890E-04 |
| MP:0002019 | Abnormal tumor incidence | Dup | 13 | 59 | 1.367E-01 | 12 | 49 | 3.656E-02 | 1.258E-02 | 32 | 8 | 4.183E-02 | 1.368E-05 | 1.095E-03 |
| MP:0002127 | Abnormal cardiovascular system morphology | Dup | 16 | 110 | 7.784E-01 | 22 | 86 | 3.796E-03 | 2.742E-02 | 50 | 15 | 3.125E-02 | 1.598E-05 | 1.249E-03 |
| MP:0002166 | Altered tumor susceptibility | Dup | 13 | 59 | 1.367E-01 | 12 | 50 | 3.962E-02 | 1.315E-02 | 32 | 8 | 4.183E-02 | 2.164E-0 | 1.478E-03 |
| MP:0005369 | Muscle phenotype | Dup | 15 | 89 | 4.394E-01 | 21 | 72 | 9.589E-04 | 4.283E-03 | 39 | 11 | 4.762E-02 | 2.282E-05 | 1.526E-03 |
| MP:0002459 | Abnormal B cell physiology | Dup | 9 | 44 | 2.795E-01 | 9 | 28 | 1.581E-02 | 1.829E-02 | 24 | 4 | 1.566E-02 | 2.655E-05 | 1.688E-03 |
| MP:0005418 | Abnormal circulating hormone level | Dup | 9 | 59 | 7.041E-01 | 16 | 39 | 1.578E-04 | 3.936E-03 | 27 | 6 | 4.044E-02 | 3.030E-05 | 1.794E-03 |
| MP:0000163 | Abnormal cartilage morphology | Dup | 4 | 21 | 5.288E-01 | 8 | 9 | 1.911E-04 | 2.089E-03 | 12 | 1 | 3.940E-02 | 3.569E-05 | 1.978E-03 |
| MP:0000738 | Impaired muscle contractility | Dup | 5 | 24 | 3.804E-01 | 8 | 23 | 1.579E-02 | 2.268E-02 | 18 | 1 | 3.141E-03 | 3.539E-05 | 1.978E-03 |
| MP:0002106 | Abnormal muscle physiology | Dup | 12 | 62 | 2.720E-01 | 13 | 56 | 4.745E-02 | 3.260E-02 | 33 | 6 | 5.904E-03 | 3.530E-05 | 1.978E-03 |
| MP:0003953 | Abnormal hormone level | Dup | 11 | 70 | 6.017E-01 | 16 | 47 | 1.436E-03 | 1.115E-02 | 30 | 6 | 1.315E-02 | 4.975E-05 | 2.520E-03 |
| MP:0002498 | Abnormal acute inflammation | Dup | 4 | 22 | 5.402E-01 | 10 | 20 | 8.740E-04 | 4.652E-03 | 14 | 1 | 1.486E-02 | 9.731E-05 | 4.123E-03 |
| MP:0005620 | Abnormal muscle contractility | Dup | 5 | 29 | 5.913E-01 | 9 | 28 | 1.581E-02 | 3.829E-02 | 19 | 1 | 3.341E-03 | 1.310E-04 | 5.088E-03 |
| MP:0004087 | Abnormal muscle fiber morphology | Dup | 6 | 34 | 4.656E-01 | 9 | 24 | 7.251E-03 | 2.456E-02 | 15 | 2 | 4.086E-02 | 1.673E-03 | 3.218E-02 |
| MP:0002164 | Abnormal gland physiology | Del | 17 | 43 | 3.923E-04 | 6 | 24 | 1.329E-01 | 1.676E-04 | 23 | 4 | 2.370E-02 | 3.503E-07 | 2.287E-05 |
| MP:0005667 | Abnormal circulating leptin level | Del | 7 | 10 | 2.104E-03 | 2 | 8 | 3.027E-01 | 2.340E-03 | 12 | 1 | 3.940E-02 | 2.433E-06 | 1.128E-04 |
| MP:0000274 | Enlarged heart | All | 18 | 72 | 2.051E-02 | 11 | 47 | 5.591E-02 | 3.728E-03 | 46 | 9 | 1.364E-03 | 1.964E-09 | 1.125E-07 |
| MP:0000920 | Abnormal myelination | All | 8 | 29 | 7.301E-02 | 6 | 24 | 1.329E-01 | 3.114E-02 | 29 | 5 | 9.726E-03 | 5.941E-08 | 2.263E-06 |
| MP:0003856 | Abnormal hindlimb stylopod morphology | All | 13 | 27 | 4.461E-04 | 3 | 13 | 4.080E-01 | 3.988E-04 | 19 | 1 | 3.341E-03 | 8.467E-08 | 3.174E-06 |
| MP:0000559 | Abnormal femur morphology | All | 13 | 25 | 2.510E-04 | 2 | 13 | 6.767E-01 | 6.723E-04 | 19 | 1 | 3.341E-03 | 9.189E-08 | 3.409E-06 |
| MP:0005438 | Abnormal glycogen homeostasis | All | 7 | 19 | 2.768E-02 | 4 | 13 | 1.078E-01 | 1.297E-02 | 21 | 3 | 1.643E-02 | 1.054E-07 | 3.871E-06 |
| MP:0005437 | Abnormal glycogen level | All | 7 | 17 | 1.793E-02 | 3 | 13 | 4.080E-01 | 2.046E-02 | 21 | 3 | 1.643E-02 | 1.112E-07 | 4.040E-06 |
| MP:0005560 | Decreased circulating glucose level | All | 10 | 38 | 6.803E-02 | 6 | 24 | 1.329E-01 | 1.895E-02 | 30 | 7 | 3.460E-02 | 2.331E-07 | 7.722E-06 |
| MP:0008772 | Increased heart ventricle size | All | 11 | 35 | 1.892E-02 | 8 | 34 | 1.272E-01 | 6.182E-03 | 27 | 5 | 1.448E-02 | 9.078E-07 | 2.597E-05 |
| MP:0000558 | Abnormal tibia morphology | All | 8 | 17 | 6.336E-03 | 4 | 15 | 1.480E-01 | 3.210E-03 | 16 | 1 | 8.754E-03 | 1.812E-06 | 4.817E-05 |
| MP:0003109 | Short femu | All | 9 | 18 | 2.801E-03 | 2 | 12 | 6.609E-01 | 5.397E-03 | 16 | 1 | 8.754E-03 | 1.972E-06 | 5.183E-05 |
| MP:0003857 | Abnormal hindlimb zeugopod morphology | All | 8 | 20 | 1.324E-02 | 5 | 16 | 7.209E-02 | 2.865E-03 | 16 | 1 | 8.754E-03 | 4.252E-06 | 9.707E-05 |
| MP:0002764 | Short tibia | All | 5 | 12 | 4.226E-02 | 4 | 11 | 7.348E-02 | 8.269E-03 | 13 | 1 | 2.402E-02 | 1.021E-05 | 2.034E-04 |
| MP:0000267 | Abnormal heart development | All | 16 | 46 | 2.119E-03 | 8 | 30 | 6.137E-02 | 3.724E-04 | 20 | 3 | 2.563E-02 | 1.371E-05 | 2.557E-04 |
| MP:0001176 | Abnormal lung development | All | 7 | 21 | 4.051E-02 | 4 | 14 | 1.273E-01 | 1.685E-02 | 16 | 1 | 8.754E-03 | 1.486E-05 | 2.722E-04 |
| MP:0004982 | Abnormal osteoclast morphology | All | 6 | 21 | 1.242E-01 | 3 | 8 | 1.115E-01 | 3.503E-02 | 15 | 2 | 4.086E-0 | 3.569E-05 | 5.726E-04 |
| MP:0003055 | Abnormal long bone epiphyseal plate morphology | All | 7 | 25 | 9.363E-02 | 4 | 11 | 7.348E-02 | 1.877E-02 | 13 | 1 | 2.402E-02 | 2.374E-04 | 2.689E-03 |
| MP:0002182 | Abnormal astrocyte morphology | All | 9 | 23 | 9.776E-03 | 3 | 17 | 4.764E-01 | 1.495E-02 | 12 | 1 | 3.940E-02 | 7.410E-04 | 6.689E-03 |
a
Two-sided Fisher Exact Test.
b
False Discovery Rate Adjustment following Benjamini-Hochberg procedure.