Table 2.
CNV candidate genes for GSD
| Gene ID | N° GSD cases | N° controls | Case sex | Chr | CNV start (hg19) | CNV end (hg19) | Type | Cohort |
|---|---|---|---|---|---|---|---|---|
| ALAS1 | 1 | 0 | Male | 3 | 52,082,780 | 53,128,685 | Loss | POPGEN |
| BDH1 | 1 | 0 | Female | 3 | 196979974 | 197340846 | Gain | SHIP-2 |
| AGPAT9 | 1 | 0 | Female | 4 | 84,039,517 | 85,091,231 | Gain | ANCORA |
| PRKAA1, OXCT1 | 1 | 0 | Female | 5 | 37,623,393 | 42,403,769 | Gain | ANCORA |
| POR | 1 | 0 | Male | 7 | 75,220,393 | 75,956,150 | Gain | POPGEN |
| AGPAT5 | 1 | 0 | Male | 8 | 6,254,942 | 6,661,675 | Gain | POPGEN |
| LYN | 1 | 0 | Male | 8 | 56,753,726 | 57,051,296 | Gain | POPGEN |
| PLIN2 | 1 | 0 | Female | 9 | 19,031,461 | 19,226,776 | Gain | POPGEN |
| PDHX | 1 | 0 | Male | 11 | 34,592,852 | 34,952,574 | Gain | POPGEN |
| GOLT1B | 1 | 0 | Female | 12 | 20837585 | 21981183 | Gain | SHIP-2 |
| HNF1A | 1 | 0 | Female | 12 | 121,202,411 | 121,744,337 | Gain | POPGEN |
| RB1 | 1 | 0 | Male | 13 | 48646292 | 49269685 | Loss | SHIP-2 |
| FECH, ATP8B1 | 2 | 0 | Male, Female | 18 | 55,206,938 | 55,465,080 | Gain | POPGEN |
| SULT2A1 | 1 | 0 | Female | 19 | 48,085,947 | 48,392,233 | Gain | POPGEN |
| RBL1 | 1 | 0 | Female | 20 | 35524811 | 35731498 | Gain | SHIP-2 |
| PCK1 | 1 | 0 | Male | 20 | 55,665,634 | 56,143,223 | Gain | POPGEN |
| APOL1, APOL2 | 1 | 0 | Male | 22 | 36,556,147 | 36,749,312 | Gain | POPGEN |
| TBL1X | 1 | 0 | Female | X | 9,443,988 | 9,763,908 | Gain | ANCORA |
| PDHA1 | 1 | 0 | Male | X | 18,662,632 | 19,449,407 | Gain | POPGEN |
| OCRL | 1 | 0 | Female | X | 113,759,647 | 150,222,670 | Loss | POPGEN |