Table 2. Five CRs associated with limb developmental disorders.
CR ID | Disease Name | CR Type | Genome Loci | Gene | SI Score (hESC) | FDR (SI score) |
---|---|---|---|---|---|---|
25959774.3 | Brachydactyly | Deletion | Chr2:221278232-223014332 | PAX3 | 0.017 | 38.7% |
25959774.1 | F-syndrome | Inversion | Chr2:219741632-220839811 | WNT6 | 0.724 | 1.1% |
25959774.2 | F-syndrome | Duplication | Chr2:219295343-220501540 | WNT6 | 0.724 | 1.1% |
22234151 | Polydactyly | Duplication | Chr2:219876448-220786974 | IHH | 0.724 | 1.1% |
18272352 | Polydactyly | Deletion | Chr2:220019492-220643226 | IHH | 0.724 | 1.1% |
CR ID: ID in 3Disease Browser. SI Score (hESC) is calculated using hESC cell line’s data.