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. 2016 Oct 13;6:34651. doi: 10.1038/srep34651

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%

CR ID: ID in 3Disease Browser. Gene is the candidate gene name affected by CR events. SI Score (hESC) is calculated using hESC cell line’s data.