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| AAAS | CAV1 | EEF2 | HEPACAM | MTPAP | PEX7 | SCYL1 | TCTN2 | WDR73 |
| AARS2 | CC2D2A | EIF2B1 | HEXA | MTTP | PHYH | SDHA | TDP1 | WDR81 |
| ABCB7 | CCDC88C | EIF2B2 | HEXB | MVK | PIK3R5 | SEPSECS | TDP2 | WFS1 |
| ABCD1 | CEP290 | EIF2B3 | HIBCH | NDUFA10 | PLA2G6 | SERAC1 | TGM6 | WWOX |
| ABHD12 | CLCN2 | EIF2B4 | HSD17B4 | NDUFAF6 | PLD3 | SETX | THG1L | XRCC1 |
| ACO2 | CLN3 | EIF2B5 | IFRD1 | NDUFS1 | PLP1 | SIL1 | TIMM8A | ZNF592 |
| ADPRHL2 | CLN5 | ELOVL4 | ITPR1 | NDUFS2 | PMM2 | SLC16A2 | TMEM216 | |
| AFG3L2 | CLN6 | ELOVL5 | KCNA1 | NDUFS4 | PMPCA | SLC17A5 | TMEM240 | |
| AGTPBP1 | CLN8 | EPM2A | KCNA2 | NDUFS7 | PNKP | SLC19A3 | TMEM67 | |
| AHI1 | COA7 | ERCC4 | KCNC3 | NDUFS8 | PNPLA6 | SLC1A3 | TPP1 | |
| ALDH5A1 | COASY | EXOSC3 | KCND3 | NDUFV1 | POLG | SLC25A15 | TRNT1 | |
| ALG6 | COG8 | EXOSC8 | KCNJ10 | NEU1 | POLR1C | SLC25A46 | TRPC3 | |
| ALG8 | COQ5 | FA2H | KCTD7 | NFASC | POLR3A | SLC2A1 | TSEN15 | |
| AMACR | COQ8A | FGF14 | KIAA0586 | NFU1 | POLR3B | SLC33A1 | TSEN2 | |
| AMPD2 | COX20 | FLVCR1 | KIF1C | NHLRC1 | PPT1 | SLC35A1 | TSEN54 | |
| ANO10 | CP | FMR1 | KLC2 | NKX2-1 | PRICKLE1 | SLC35A2 | TSFM | |
| APTX | CSPP1 | FOLR1 | L2HGDH | NKX6-2 | PRKCG | SLC52A2 | TTBK2 | |
| ARSA | CTC1 | FOXRED1 | LAMA1 | NPC1 | PRNP | SLC52A3 | TTC19 | |
| ATCAY | CTSD | FXN | LMNB1 | NPC2 | PRPS1 | SLC6A19 | TTPA | |
| ATG5 | CTSF | GALC | LRPPRC | NPHP1 | PRRT2 | SLC9A1 | TUBB2A | |
| ATM | CWF19L1 | GAN | MAN2B1 | NUBPL | PRX | SLC9A6 | TUBB4A | |
| ATP1A3 | CYP27A1 | GBA | MARS2 | OPA1 | PTRH2 | SMPD1 | TWNK | |
| ATP7B | CYP7B1 | GBA2 | MECP2 | OPA3 | PUM1 | SNX14 | TXN2 | |
| BCKDHB | CHCHD10 | GDAP2 | MFSD8 | OPHN1 | RARS2 | SPG7 | UBA5 | |
| BCS1L | CHMP1A | GFAP | MGME1 | PCDH12 | RNF170 | SPTBN2 | UBE3A | |
| C5orf42 | CHP1 | GJC2 | MKS1 | PDHA1 | RNF216 | SQSTM1 | UQCRQ | |
| CA8 | DAB1 | GLB1 | MLC1 | PDHX | RPGRIP1L | SRD5A3 | VAMP1 | |
| CACNA1A | DARS2 | GOSR2 | MMACHC | PDYN | RRM2B | STUB1 | VARS2 | |
| CACNA1G | DLAT | GPAA1 | MME | PEX10 | RTN4IP1 | SURF1 | VLDLR | |
| CACNB4 | DNAJC19 | GRID2 | MRE11 | PEX16 | SACS | SYNE1 | VPS13D | |
| CAPN1 | DNAJC5 | GRM1 | MSTO1 | PEX2 | SCN2A | SYT14 | VRK1 | |
| CASK | DNMT1 | GRN | MTFMT | PEX6 | SCN8A | TANGO2 | VWA3B |
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