Table 3.

Gene list exported by Software Mingjian according to the inputting core phenotypes.

Number of consilient phenotypes	Gene lists
6	PMM2 CEP290
5	GBA, POLG, GP1BB, HSD17B4, PEX1, PEX6, ERCC2 BCS1L, DOCK8, PEX10, TCF4, PEX12, ERCC6, RRM2B, PEX26, PEX2, ERCC4, PEX16, GRIN2B, PEX5, ERCC1, WDR73, PEX3, K1F1A, PEX14, PEX19, PEX11B, ADGRG1, C100RF2
4	ABCD1, SCN1A, ABCC8, PTS, SURF1, BTD, NPC1,GCH1, ASL, CDKL5, ASS1, ATM, PRF1, GAMT, PDHA1, CPS1, OFD1, PLA2G6, SOX10, ETHE1, GJA1, ADSL, PROKR2, FGFR1, PPT1, FKRP, OTX2, POMGNT1, NPC2, SCO2, SIL1, BBS2, UNC13D, POMT1, TBX1, BBS1, STXBP1, BBS10, NDUFS4, ALMS1, GJC2, STXBP2, NPHP1, BRAF,HESX1, NDUFV1, ECHS1, MKKS, ERCC8, GMPPB, BBS12, NDUFS8, TUBB2B, POLR1C, COQ2, MKS1, SUCLG1, FMR1, BBS4, POLR3B, SPR, RAB3GAP1, ADLH5A1, RAF1, NDUFAF2, SDHA, EDNRB, CC2D2A, RARS2, ARL6, TSEN54, SUOX, SLC17A5, MBD5, POMT2, SCN2A, MMADHC, SCN9A, MFSD8, NDUFS2, SLC25A1, BBS7, POLR3A, PCNT, NDUFS6, EDN3, PDHX, PNKP, BBS9, WWOX, PSAP, DPM1, DYRK1A, NDUFA1, PET100, TTC8, ALG6, FKTN, DLD, NDUFS1, TMEM216, BBS5, SDCCAG8, SLC19A3, SYNGAP1, HIBCH, NDUFS7, COX6B1, NDUFAF1, MTFMT, SLC6A19, ALG1, LARGE, ERCC3, NOTCH1, CTC1, KCNJ10, GLI2, IFT172, TRIM32, NDUFS3, LIPT1, DOCK6, DYNC1H1, NDUFAF3, SCO1, NDUFB9, SLC46A1, NDUFA2, TMEM138, TMEM138, NDUFB3, DLL4, NDUFAF5, TTC19, GABRA1, COA3, FOXRED1, STX11, COX10, SLC25A4, DEAF1, ACO2, NDUFV2, B3GALNT2, GRIN1, APOPT1, NUBPL, TSFM, CDH15, NDUFA12, CYC1, WDPCP, RAB3GAP2, RFT1, TACO1, COX14, TMEM231, TMEM237, NDUFA11, GRM1, NDUFAF6, ZNF423, RPIA, KIRREL3, ATP5A1, NDUFA4, IFT27, COMT, PDSS2, NDUFAF4, UQCC2, LZTFL1, EOGT, UQCRQ, NDUFA9, COX15, NDUFA10, UQCRC2, UQCC3, DHFR, BBIP1, PDP1, CACNG2, PLXND1, COX20, ARHGAP31, RBPJ, EPB41L1, NIN, CTDP1, MYO5A, UQCRB, NAT8L, LYRM7, FASTKD2, ZNF592, C5ORF42, ND3, ND2, TRNV, ND5, ND4, ND1, ATP6, CYTB, ND6, TRNL1, COX2, COX3, TRNK, RNU4ATAC, COX1, TRNW
3	OTC, DMD, PROC, SDHB… altogether 441 genes
2	GLA, PAH, GCK, GALT… altogether 543 genes
1	HBB, LDLR, MLH1… altogether 1427 genes