Search our Test Catalogue

Contact Us
For assistance with ordering one of our tests call 1-800-1200-695.

Disorder Names

Macrocephaly(ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B, D2HGDH, DAG1, DHCR24, ETFA, ETFB, ETFDH, EXT2, EZH2, FGFR3, FH, FKBP10, GALNS, GCDH, GFAP, GJA1, GLB1, GLI3, GNS, GPC3, GPC4, GRIA3, GUSB, HEPACAM, HEXB, HGSNAT, HRAS, HSD17B4, IDH2, IDS, IDUA, IGBP1, IGF2, INPP5E, ISPD, ITCH, KDM5C, KIF7, L1CAM, L2HGDH, LAMB1, LBR, LMNA, LRP2, MAN2B1, MECP2, MED12, MGAT2, MITF, MLC1, MOCS1, MOCS2, MPDZ, NAGLU, NF1, NFIA, NSD1, OFD1, OPHN1, PDSS1, PEX1, PIK3CA, PIK3R2, PLG, PTCH1, PTCH2, PTEN, RAB39B, RIN2, RNF135, ROR2, SDHB, SETD2, SGSH, SHOC2, SNX10, SOS1, SOST, SOX9, STRADA, SUFU, TCIRG1, THRA, TMCO1, TMEM216, UPF3B, WNT5A, XYLT1)

MACS syndrome(ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B, D2HGDH, DAG1, DHCR24, ETFA, ETFB, ETFDH, EXT2, EZH2, FGFR3, FH, FKBP10, GALNS, GCDH, GFAP, GJA1, GLB1, GLI3, GNS, GPC3, GPC4, GRIA3, GUSB, HEPACAM, HEXB, HGSNAT, HRAS, HSD17B4, IDH2, IDS, IDUA, IGBP1, IGF2, INPP5E, ISPD, ITCH, KDM5C, KIF7, L1CAM, L2HGDH, LAMB1, LBR, LMNA, LRP2, MAN2B1, MECP2, MED12, MGAT2, MITF, MLC1, MOCS1, MOCS2, MPDZ, NAGLU, NF1, NFIA, NSD1, OFD1, OPHN1, PDSS1, PEX1, PIK3CA, PIK3R2, PLG, PTCH1, PTCH2, PTEN, RAB39B, RIN2, RNF135, ROR2, SDHB, SETD2, SGSH, SHOC2, SNX10, SOS1, SOST, SOX9, STRADA, SUFU, TCIRG1, THRA, TMCO1, TMEM216, UPF3B, WNT5A, XYLT1)

Malonyl-CoA decarboxylase deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Mandibuloacral dysplasia(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Mannosidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Maple syrup urine disease(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Marfan lipodystrophy syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Marfan syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Marinesco-Sjogren syndrome(ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC88C, CISD2, CLCN2, CLN5, CLN6, CLN8, COQ2, COQ4, COQ6, COQ9, COX10, COX6B1, CSTB, CTSD, CYP27A1, DARS2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FASTKD2, FGF14, FLVCR1, FMR1, FXN, GJB1, GOSR2, GPR56, GRM1, GRN, IFRD1, IFT140, ITM2B, ITPR1, KCNA1, KCND3, KCNJ10, KCTD7, KIAA0226, LMNB2, MARS2, MECP2, MFSD8, MME, MRE11A, MTPAP, NBN, NDUFS7, NHLRC1, NKX2-1, NPC1, NPC2, NUBPL, OPA1, PAX6, PC, PDHA1, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX7, PHYH, PIK3R5, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRPS1, PRX, PSEN1, RNF170, RPGRIP1L, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SPTBN2, SQSTM1, SRD5A3, SYNE1, SYT14, TACO1, TDP1, TGM6, TMEM67, TPP1, TRPC3, TTBK2, TTC19, TTPA, VLDLR, WDR81, WFS1, WWOX, ZNF592)

Martin-Probst syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Meckel syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Meckel syndrome(B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM67)

MEDNIK syndrome(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

MEDNIK syndrome(AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10orf2, CCT5, CD59, CSGALNACT1, CTDP1, DCTN1, DFNB59, DHH, DIAPH3, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GBA, GDAP1, GJB1, GJB3, GLA, GSN, HADHA, HADHB, HARS, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OTOF, PHYH, PLEKHG5, PMP22, PNPLA6, POLG, PRPS1, PRX, RAB7A, REEP1, RPIA, SACS, SBF2, SCN10A, SCN9A, SCP2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC5A7, SNAP29, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TMEM126A, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS)

MEDNIK syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Medullary cystic kidney disease(HNF1B, MUC1, UMOD)

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Megaloblastic anemia due to dihydrofolate reductase deficiency(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Megaloblastic anemia-1, Finnish type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Megaloblastic anemia-1, Norwegian type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Meleda disease(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

MEND syndrome(ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1)

Menkes disease(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Menkes disease(HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE2, KCNA1, SLC12A3, SLC30A10, SLC39A4, SLC40A1, TFR2, TRPM6)

Methylglutaconic aciduria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Methylmalonate semialdehyde dehydrogenase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Methylmalonic acidemia with homocystinuria cblD(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic acidemia with homocystinuria, type cblC(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic aciduria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Methylmalonic aciduria and homocystinuria, cblJ type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic aciduria Cb1F type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic aciduria cblA type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic aciduria CblB type(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonic aciduria due to transcobalamin receptor defect(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Methylmalonyl-CoA epimerase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Mevalonic aciduria(ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1)

Microcephaly(ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335)

Miller syndrome(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Miller-Dieker syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Mitochondrial complex I deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial complex I deficiency due to ACAD9 deficiency, Acyl-CoA dehydrogenase family, member 9, deficiency of(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Mitochondrial complex II deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial complex III deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial Complex IV Deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial Complex V Deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial DNA depletion syndrome(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Mitochondrial membrane transport disorders(SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A38, TIMM8A)

Mitochondrial phosphate carrier deficiency(SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A38, TIMM8A)

Miyoshi myopathy(ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, CPT2, CRYAB, DES, DNM2, DYSF, FHL1, FKBP14, FLNC, GBE1, GFER, GNE, GYG1, HADHA, HADHB, HRAS, HSPG2, ISCU, ITGA7, KBTBD13, KLHL9, LAMP2, LDB3, LMNA, MATR3, MEGF10, MTAP, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYO18B, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PGAM2, PNPLA2, PUS1, RRM2B, RYR1, SEPN1, SGCG, SIL1, SLC16A1, SLC5A7, SQSTM1, STIM1, SUCLA2, SUCLG1, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TSFM, TTN, VCP, VMA21, YARS2)

Mohr-Tranebjaerg syndrome(ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, COL6A3, COX10, COX15, CP, CTSD, D2HGDH, DCAF17, DNAJC5, DRD2, DRD5, FA2H, FBXO7, FOXRED1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GRN, HPRT1, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MTFMT, MUT, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NPC1, NPC2, PAH, PANK2, PARK2, PDGFB, PDHX, PINK1, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKRA, PRRT2, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHA, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A19, SLC6A3, SLC6A8, SNCA, SPR, SQSTM1, SUCLA2, SURF1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, VPS13A, WDR45, XK)

Mohr-Tranebjaerg syndrome(SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A38, TIMM8A)

Molybdenum cofactor deficiency(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Monilethrix(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

MORM syndrome(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Mowat-Wilson syndrome(ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335)

Mucolipidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Mucopolysaccharidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Mulibrey nanism(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Multiminicore disease(ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, CPT2, CRYAB, DES, DNM2, DYSF, FHL1, FKBP14, FLNC, GBE1, GFER, GNE, GYG1, HADHA, HADHB, HRAS, HSPG2, ISCU, ITGA7, KBTBD13, KLHL9, LAMP2, LDB3, LMNA, MATR3, MEGF10, MTAP, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYO18B, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PGAM2, PNPLA2, PUS1, RRM2B, RYR1, SEPN1, SGCG, SIL1, SLC16A1, SLC5A7, SQSTM1, STIM1, SUCLA2, SUCLG1, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TSFM, TTN, VCP, VMA21, YARS2)

Multiple mitochondrial dysfunctions syndrome(ABCB7, BOLA3, CYB5A, CYB5R3, FXN, HTRA2, ISCU, NFU1)

Multiple mtDNA deletion syndrome(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Multiple sulphatase deficiency(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Muscular dystrophy(ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1)

Muscular dystrophy-dystroglycanopathy(ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT1, B4GALT1, B4GALT7, COG1, COG4, COG5, COG6, COG7, COG8, DAG1, DDOST, DOLK, DPAGT1, DPM1, DPM3, EXT1, EXT2, FKRP, FKTN, GALNT3, GNE, ISPD, LARGE1, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, RFT1, SEC23B, SLC35A1, SLC35C1, SLC35D1, SRD5A3, ST3GAL5, TMEM165, TUSC3)

Muscular dystrophy-dystroglycanopathy(ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1)

Myopathy(ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, CPT2, CRYAB, DES, DNM2, DYSF, FHL1, FKBP14, FLNC, GBE1, GFER, GNE, GYG1, HADHA, HADHB, HRAS, HSPG2, ISCU, ITGA7, KBTBD13, KLHL9, LAMP2, LDB3, LMNA, MATR3, MEGF10, MTAP, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYO18B, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PGAM2, PNPLA2, PUS1, RRM2B, RYR1, SEPN1, SGCG, SIL1, SLC16A1, SLC5A7, SQSTM1, STIM1, SUCLA2, SUCLG1, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TSFM, TTN, VCP, VMA21, YARS2)

Mainzer Saldino Syndrome(ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2D2A, CEP290, CEP41, DYNC2H1, EVC, EVC2, GLI3, IFT122, IFT140, IFT43, IFT80, INPP5E, KIF7, LZTFL1, MKKS, MKS1, NEK1, NPHP3, OFD1, RPGRIP1, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR35)

Majeed syndrome(ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, IL6, KIF22, LPIN2, MATN3, MMP2, NLRP3, PAPSS2, PRG4, PSMB8, SLC26A2, SLCO2A1, SMAD3, TRPV4, WISP3)

Malan syndrome(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

Mandibuloacral dysplasia(ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, MMP14, MMP2, NOTCH2, RUNX2, SQSTM1, TNFRSF11A, WNK1, ZMPSTE24)

Marden-Walker syndrome(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

Marfan lipodystrophy syndrome(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

Marfan syndrome(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

Marshall syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Marshall-Smith syndrome(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

MASS syndrome(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

Meckel syndrome(ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2D2A, CEP290, CEP41, DYNC2H1, EVC, EVC2, GLI3, IFT122, IFT140, IFT43, IFT80, INPP5E, KIF7, LZTFL1, MKKS, MKS1, NEK1, NPHP3, OFD1, RPGRIP1, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR35)

Meier-Gorlin syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Meier-Gorlin syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Melanoma(BRCA2, CDK4, CDKN2A, ERCC2, ERCC3, ERCC4, ERCC5, PTEN, XPA, XPC)

Melanoma-astrocytoma syndrome/Pancreatic carcinoma syndrome(CDKN2A)

Melnick-Needles syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Metachondromatosis(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Metaphyseal anadysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Metaphyseal dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Metatropic dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Microcephalic osteodysplastic primordial dwarfism(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Miller syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Mosaic variegated aneuploidy syndrome(BUB1B, CEP57)

Muckle-Wells syndrome(ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, IL6, KIF22, LPIN2, MATN3, MMP2, NLRP3, PAPSS2, PRG4, PSMB8, SLC26A2, SLCO2A1, SMAD3, TRPV4, WISP3)

Muenke syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Muir-Torre syndrome(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

Multiple cartilaginous exostoses(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Multiple enchondromatosis(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Multiple endocrine neoplasia 1 (MEN1)(ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, VHL)

Multiple endocrine neoplasia 2 (MEN2)(ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, VHL)

Multiple epiphyseal dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Multiple exostoses (type 1 and 2)(EXT1, EXT2)

Multiple pterygium syndrome(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

Multiple synostoses syndrome(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

MUTYH-associated polyposis (MAP)(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

Multiple familial trichoepithelioma(CYLD)

MACROD2(MACROD2)

MAD1L1(MAD1L1)

MAD2L1(MAD2L1)

MADD(MADD)

MAF(MAF)

MAFB(MAFB)

MAGEE2(MAGEE2)

MAGEL2(MAGEL2)

MAGI2(MAGI2)

MAGT1(MAGT1)

MAK(MAK)

MAMLD1(MAMLD1)

MAN1A2(MAN1A2)

MAN1B1(MAN1B1)

MAN2B1(MAN2B1)

MANBA(MANBA)

MAOA(MAOA)

MAOB(MAOB)

MAP2(MAP2)

MAP2K1(MAP2K1)

MAP2K2(MAP2K2)

MAP2K3(MAP2K3)

MAP2K4(MAP2K4)

MAP3K1(MAP3K1)

MAP3K15(MAP3K15)

MAP4K5(MAP4K5)

MAP6(MAP6)

MAP7D3(MAP7D3)

MAPK10(MAPK10)

MAPK8IP1(MAPK8IP1)

MAPT(MAPT)

MARS2(MARS2)

MARVELD2(MARVELD2)

MASP1(MASP1)

MASP2(MASP2)

MAST4(MAST4)

MASTL(MASTL)

MAT1A(MAT1A)

MATN3(MATN3)

MATR3(MATR3)

MAVS(MAVS)

MAX(MAX)

MBD1(MBD1)

MBD3(MBD3)

MBD4(MBD4)

MBD5(MBD5)

MBL2(MBL2)

MBTPS2(MBTPS2)

MC1R(MC1R)

MC2R(MC2R)

MC3R(MC3R)

MC4R(MC4R)

MCCC1(MCCC1)

MCCC2(MCCC2)

MCEE(MCEE)

MCF2L2(MCF2L2)

MCFD2(MCFD2)

MCHR1(MCHR1)

MCL1(MCL1)

MCM3AP(MCM3AP)

MCM4(MCM4)

MCM5(MCM5)

MCM6(MCM6)

MCOLN1(MCOLN1)

MCPH1(MCPH1)

MDH1(MDH1)

MDM2(MDM2)

MDM4(MDM4)

MDN1(MDN1)

MECP2(MECP2)

MED12(MED12)

MED13(MED13)

MED13L(MED13L)

MED17(MED17)

MED23(MED23)

MED25(MED25)

MEF2A(MEF2A)

MEF2C(MEF2C)

MEFV(MEFV)

MEGF10(MEGF10)

MEGF11(MEGF11)

MEIS1(MEIS1)

MEIS2(MEIS2)

MEN1(MEN1)

MEP1B(MEP1B)

MERTK(MERTK)

MESDC2(MESDC2)

MESP2(MESP2)

MEST(MEST)

MET(MET)

MFF(MFF)

MFGE8(MFGE8)

MFI2(MFI2)

MFN2(MFN2)

MFRP(MFRP)

MFSD2A(MFSD2A)

MFSD8(MFSD8)

MGAT1(MGAT1)

MGAT2(MGAT2)

MGAT4C(MGAT4C)

MGEA5(MGEA5)

MGLL(MGLL)

MGMT(MGMT)

MGP(MGP)

MGST2(MGST2)

MGST3(MGST3)

MIA3(MIA3)

MIAT(MIAT)

MICA(MICA)

MICB(MICB)

MID1(MID1)

MIF(MIF)

MIIP(MIIP)

MINPP1(MINPP1)

MIP(MIP)

MIPOL1(MIPOL1)

MIR106B(MIR106B)

MIR124-1(MIR124-1)

MIR125A(MIR125A)

MIR126(MIR126)

MIR140(MIR140)

MIR146A(MIR146A)

MIR16-1(MIR16-1)

MIR17(MIR17)

MIR17HG(MIR17HG)

MIR182(MIR182)

MIR184(MIR184)

MIR191(MIR191)

MIR196A2(MIR196A2)

MIR206(MIR206)

MIR24-1(MIR24-1)

MIR27A(MIR27A)

MIR2861(MIR2861)

MIR30C1(MIR30C1)

MIR34B(MIR34B)

MIR499A(MIR499A)

MIR502(MIR502)

MIR510(MIR510)

MIR890(MIR890)

MIR892B(MIR892B)

MIR934(MIR934)

MIR96(MIR96)

MIRLET7E(MIRLET7E)

MITF(MITF)

MKKS(MKKS)

MKL1(MKL1)

MKRN3(MKRN3)

MKS1(MKS1)

MLC1(MLC1)

MLH1(MLH1)

MLH3(MLH3)

MLLT3(MLLT3)

MLPH(MLPH)

MLXIPL(MLXIPL)

MLYCD(MLYCD)

MMAA(MMAA)

MMAB(MMAB)

MMACHC(MMACHC)

MMADHC(MMADHC)

MME(MME)

MMEL1(MMEL1)

MMP1(MMP1)

MMP10(MMP10)

MMP12(MMP12)

MMP13(MMP13)

MMP14(MMP14)

MMP2(MMP2)

MMP20(MMP20)

MMP3(MMP3)

MMP7(MMP7)

MMP8(MMP8)

MMP9(MMP9)

MNX1(MNX1)

MOCOS(MOCOS)

MOCS1(MOCS1)

MOCS2(MOCS2)

MOG(MOG)

MOGS(MOGS)

MOK(MOK)

MPDU1(MPDU1)

MPDZ(MPDZ)

MPG(MPG)

MPHOSPH8(MPHOSPH8)

MPI(MPI)

MPL(MPL)

MPLKIP(MPLKIP)

MPO(MPO)

MPP3(MPP3)

MPP4(MPP4)

MPP6(MPP6)

MPP7(MPP7)

MPST(MPST)

MPV17(MPV17)

MPZ(MPZ)

MR1(MR1)

MRAP(MRAP)

MRC1(MRC1)

MRE11A(MRE11A)

MRPL3(MRPL3)

MRPL48(MRPL48)

MRPS16(MRPS16)

MRPS22(MRPS22)

MRRF(MRRF)

MS4A1(MS4A1)

MS4A12(MS4A12)

MS4A2(MS4A2)

MS4A3(MS4A3)

MS4A6A(MS4A6A)

MS4A6E(MS4A6E)

MSH2(MSH2)

MSH3(MSH3)

MSH4(MSH4)

MSH5(MSH5)

MSH6(MSH6)

MSMB(MSMB)

MSMO1(MSMO1)

MSR1(MSR1)

MSRB3(MSRB3)

MST1(MST1)

MST1R(MST1R)

MSTN(MSTN)

MSX1(MSX1)

MSX2(MSX2)

MT1A(MT1A)

MT2A(MT2A)

MTAP(MTAP)

MTCH2(MTCH2)

MTFMT(MTFMT)

MTHFD1(MTHFD1)

MTHFD1L(MTHFD1L)

MTHFR(MTHFR)

MTHFS(MTHFS)

MTM1(MTM1)

MTMR14(MTMR14)

MTMR2(MTMR2)

MTMR9(MTMR9)

MTNR1A(MTNR1A)

MTNR1B(MTNR1B)

MTO1(MTO1)

MTPAP(MTPAP)

MTR(MTR)

MTRR(MTRR)

MTTP(MTTP)

MTUS1(MTUS1)

MUC1(MUC1)

MUC13(MUC13)

MUC2(MUC2)

MUC3A(MUC3A)

MUC4(MUC4)

MUC5B(MUC5B)

MUC6(MUC6)

MUC7(MUC7)

MURC(MURC)

MUSK(MUSK)

MUT(MUT)

MUTYH(MUTYH)

MVK(MVK)

MX1(MX1)

MYB(MYB)

MYBL2(MYBL2)

MYBPC1(MYBPC1)

MYBPC3(MYBPC3)

MYC(MYC)

MYCL(MYCL)

MYCN(MYCN)

MYD88(MYD88)

MYF6(MYF6)

MYH11(MYH11)

MYH13(MYH13)

MYH14(MYH14)

MYH15(MYH15)

MYH2(MYH2)

MYH3(MYH3)

MYH6(MYH6)

MYH7(MYH7)

MYH8(MYH8)

MYH9(MYH9)

MYL2(MYL2)

MYL3(MYL3)

MYLIP(MYLIP)

MYLK(MYLK)

MYLK2(MYLK2)

MYO15A(MYO15A)

MYO18B(MYO18B)

MYO1A(MYO1A)

MYO1C(MYO1C)

MYO1E(MYO1E)

MYO1F(MYO1F)

MYO3A(MYO3A)

MYO5A(MYO5A)

MYO5B(MYO5B)

MYO6(MYO6)

MYO7A(MYO7A)

MYO7B(MYO7B)

MYO9B(MYO9B)

MYOC(MYOC)

MYOCD(MYOCD)

MYOM1(MYOM1)

MYOT(MYOT)

MYOZ2(MYOZ2)

MYPN(MYPN)

MYT1(MYT1)

MYT1L(MYT1L)

Majeed syndrome(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Muckle wells syndrome(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

MHC class II deficiency, complementation group B(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

MASP2 deficiency(C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CFD, CFH, CFHR5, CFI, CFP, COLEC11, CR2, FCN3, ITGB2, MASP2, SERPING1, THBD)

McKusick-Kaufman syndrome()

MORM syndrome()

Müllerian aplasia and hyperandrogenism(RSPO1, WNT4)

Malouf syndrome(BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA, NDN, NSMF, PNPLA6, POLR3A, POLR3B, PROKR2, SEMA3A, SNRPN, SOX10, TAC3, TACR3, WDR11)

Malouf syndrome(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)