Table 1 Top 20 diseases whose associated CRs are predicted to affect TAD.
CR ID | Disease Name | CR Type | CR length | Gene | PubMed ID | SI Score (hESC) | FDR (SI score) |
|---|---|---|---|---|---|---|---|
145620 | Cleft palate | Deletion | 3630934 | CRYBB2 | 20466091 | 0.91 | 0.04% |
145534 | Anal atresia | Duplication | 933288 | GMDS-AS1 | 20466091 | 0.84 | 0.23% |
59058 | Arthrogryposis multiplex congenita | Duplication | 840627 | APOL4 | 21844811 | 0.84 | 0.25% |
33260 | Hearing impairment | Deletion | 2641573 | CLDN5 | 20466091 | 0.84 | 0.25% |
59358 | Attention deficit hyperactivity disorder | Deletion | 2158318 | INADL | 21844811 | 0.83 | 0.29% |
57809 | Proteinuria | Deletion | 4121281 | AHSA1 | 21844811 | 0.83 | 0.29% |
58696 | Total anomalous pulmonary venous return | Duplication | 6350820 | KRT39 | 21844811 | 0.81 | 0.39% |
155396 | Tracheomalacia | Deletion | 1865737 | RGS14 | 20466091 | 0.80 | 0.54% |
57591 | Growth delay | Deletion | 7912990 | RFX4 | 21844811 | 0.79 | 0.58% |
60244 | Arachnoid cyst | Deletion | 9625433 | GTF2IRD2 | 21844811 | 0.78 | 0.65% |
57341 | Epispadias | Duplication | 747247 | MIR1243 | 21844811 | 0.77 | 0.80% |
155202 | Leukodystrophy | Deletion | 1058291 | GJA9-MYCBP | 20466091 | 0.75 | 0.95% |
153687 | Sepsis | Deletion | 5756016 | DDX41 | 20466091 | 0.74 | 1.02% |
57240 | Ambiguous genitalia | Duplication | 1500151 | ATL2 | 21844811 | 0.72 | 1.16% |
22234151 | Polydactyly type 1 | Duplication | 926183 | IHH | 22234151 | 0.72 | 1.16% |
25959774.1 | F-syndrome Type 2 | Inversion | 1098179 | WNT6 | 25959774 | 0.72 | 1.16% |
18272352 | Polydactyly | Deletion | 623734 | EPHA4 | 18272352 | 0.72 | 1.16% |
57202 | Pneumonia | Duplication | 2914266 | DGCR6 | 21844811 | 0.72 | 1.16% |
33463 | Microcephaly | Deletion | 2734514 | TXNRD2 | 20466091 | 0.72 | 1.16% |
144137 | Spina bifida occulta | Deletion | 2785959 | TTC3-AS1 | 20466091 | 0.70 | 1.43% |
