Table 2.
Characteristics and processes of the twelve genes related to CIMDL. Case HET: Number of individuals carrying at least one heterozygous qualifying variant in the gene; Case HOM: Number of individuals carrying at least one homozygous qualifying variant in the gene; Case AC: Total Allele Count of qualifying variants in the gene; Control HET: Approximate number of individuals carrying heterozygous qualifying variants in the gene; Control HOM: Number of individuals carrying homozygous qualifying variants in the gene; Control AC: Total AC for the gene; p-value: p-value under the dominant model; Adjusted p-value: p-value corrected with Benjamini-Hochberg procedure; Processes: main function associated to gene.
| Gene SYMBOL | Case HET | Case HOM | Case AC | Control HET | Control HOM | Control AC | p-Value | Adjusted p-Value | Processes |
|---|---|---|---|---|---|---|---|---|---|
| AHNAK | 12 | 12 | 154 | 0 | 0 | 0 | 2.20 × 10−49 | 2.02 × 10−45 | Cell adhesion |
| C1orf116 | 12 | 11 | 140 | 154 | 0 | 154 | 1.34 × 10−31 | 1.14 × 10−27 | Wound healing |
| CACHD1 | 12 | 12 | 140 | 97 | 0 | 97 | 6.89 × 10−34 | 5.94 × 10−30 | Apoptosis |
| FBN1 | 12 | 12 | 141 | 226 | 1 | 228 | 1.20 × 10−29 | 1.02 × 10−25 | ECM formation, Cell adhesion |
| IQGAP2 | 12 | 12 | 281 | 135 | 1 | 137 | 3.21 × 10−32 | 2.75 × 10−28 | Cytoskeleton |
| PARP4 | 12 | 11 | 374 | 1291 | 4 | 1299 | 1.08 × 10−20 | 8.78 × 10−17 | Cell growth |
| PDLIM5 | 12 | 12 | 143 | 1267 | 10 | 1287 | 9.17 × 10−21 | 7.43 × 10−17 | Cytoskeleton |
| PVR | 12 | 12 | 138 | 0 | 0 | 0 | 2.20 × 10−49 | 2.02 × 10−45 | Cell adhesion |
| ZNF469 | 12 | 12 | 443 | 321 | 0 | 321 | 6.98 × 10−28 | 5.90 × 10−24 | Collagen formation |
| OSGIN1 | 11 | 4 | 171 | 848 | 9 | 866 | 7.88 × 10−23 | 6.46 × 10−19 | Oxidative Stress, Apoptosis. |
| PPP1R15A | 10 | 2 | 97 | 854 | 5 | 864 | 8.11 × 10−23 | 6.64 × 10−19 | Apoptosis, Oxidative stress, wound healing. |
| TBC1D2 | 10 | 1 | 58 | 1435 | 10 | 1455 | 1.94 × 10−17 | 1.54 × 10−13 | Autophagy |