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Table 6 The PCNV/UPD detection rate among ES patients having CMA at BG with or without a top-level HPO term

From: Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

HPO term HPO ID PCNV/UPD detection rate with HPO term PCNV/UPD detection rate without HPO term Odds ratio Fisher exact test (p value)
Abnormality of the cardiovascular system HP:0001626 61/616 (9.01) 112/2087 (5.09) 1.84 0.0004
Abnormality of the respiratory system HP:0002086 39/365 (9.65) 134/2338 (5.42) 1.86 0.0021
Growth abnormality HP:0001507 70/805 (8) 103/1898 (5.15) 1.6 0.0037
Abnormality of the head or neck HP:0000152 95/1210 (7.28) 75/1496 (4.77) 1.57 0.0053
Abnormality of connective tissue HP:0003549 19/219 (7.98) 154/2484 (5.84) 1.4 0.1983
Abnormality of the immune system HP:0002715 26/324 (7.43) 147/2379 (5.82) 1.3 0.231
Abnormality of blood and blood-forming tissues HP:0001871 23/272 (7.8) 173/2703 (6.02) 1.32 0.2516
Abnormality of the ear HP:0000598 25/312 (7.42) 148/2391 (5.83) 1.29 0.2712
Abnormality of the skeletal system HP:0000924 84/1127 (6.94) 173/2703 (6.02) 1.16 0.2898
Abnormality of metabolism/homeostasis HP:0001939 27/347 (7.22) 146/2356 (5.84) 1.26 0.294
Abnormality of the breast HP:0000769 2/17 (10.53) 171/2686 (5.99) 1.85 0.3183
Abnormality of prenatal development or birth HP:0001197 15/297 (4.81) 158/2406 (6.16) 0.77 0.3798
Abnormality of abdomen morphology HP:0001438 39/543 (6.7) 134/2160 (5.84) 1.16 0.4354
Abnormality of the limbs HP:0040064 24/322 (6.94) 149/2381 (5.89) 1.19 0.4687
Abnormality of the genitourinary system HP:0000119 27/371 (6.78) 146/2332 (5.89) 1.16 0.4953
Abnormality of the eye HP:0000478 40/576 (6.49) 133/2127 (5.88) 1.11 0.5669
Neoplasm HP:0002664 3/72 (4) 170/2631 (6.07) 0.64 0.6242
Abnormality of the endocrine system HP:0000818 9/177 (4.84) 164/2526 (6.1) 0.78 0.6314
Abnormality of the musculature HP:0003011 62/989 (5.9) 111/1714 (6.08) 0.97 0.8709
Abnormality of the integument HP:0001574 25/405 (5.81) 148/2298 (6.05) 0.96 0.9128
Abnormality of the nervous system HP:0000707 139/2166 (6.03) 34/537 (5.95) 1.01 1
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Genome Medicine

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