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Disorder Names

  • Macrocephaly (ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B....)
  • MACS syndrome (ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B....)
  • Malonyl-CoA decarboxylase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Mandibuloacral dysplasia (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Mannosidosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Maple syrup urine disease (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Marfan lipodystrophy syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Marfan syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Marinesco-Sjogren syndrome (ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, ....)
  • Martin-Probst syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Meckel syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • 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....)
  • MEDNIK syndrome (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • MEDNIK syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Medullary cystic kidney disease (HNF1B, MUC1, UMOD....)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Megaloblastic anemia-1, Finnish type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Megaloblastic anemia-1, Norwegian type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Meleda disease (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • MEND syndrome (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Menkes disease (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Menkes disease (HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE....)
  • Methylglutaconic aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Methylmalonate semialdehyde dehydrogenase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Methylmalonic acidemia with homocystinuria cblD (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic acidemia with homocystinuria, type cblC (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Methylmalonic aciduria and homocystinuria, cblJ type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic aciduria Cb1F type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic aciduria cblA type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic aciduria CblB type (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonic aciduria due to transcobalamin receptor defect (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Methylmalonyl-CoA epimerase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Mevalonic aciduria (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Microcephaly (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Miller syndrome (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Miller-Dieker syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Mitochondrial complex I deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • 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, CA....)
  • Mitochondrial complex II deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Mitochondrial complex III deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Mitochondrial Complex IV Deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Mitochondrial Complex V Deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Mitochondrial DNA depletion syndrome (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • 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,....)
  • Mohr-Tranebjaerg syndrome (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • 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,....)
  • Monilethrix (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • MORM syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Mowat-Wilson syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Mucolipidosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Mucopolysaccharidosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Mulibrey nanism (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Multiminicore disease (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • 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, AMA....)
  • Multiple sulphatase deficiency (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Muscular dystrophy-dystroglycanopathy (ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT....)
  • Muscular dystrophy-dystroglycanopathy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Mainzer Saldino Syndrome (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Majeed syndrome (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Malan syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Mandibuloacral dysplasia (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Marden-Walker syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Marfan lipodystrophy syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Marfan syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Marshall syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Marshall-Smith syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • MASS syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Meckel syndrome (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Meier-Gorlin syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Meier-Gorlin syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • 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....)
  • Metachondromatosis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Metaphyseal anadysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Metaphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Metatropic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Microcephalic osteodysplastic primordial dwarfism (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Miller syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Mosaic variegated aneuploidy syndrome (BUB1B, CEP57....)
  • Muckle-Wells syndrome (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Muenke syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Muir-Torre syndrome (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Multiple cartilaginous exostoses (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Multiple enchondromatosis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Multiple endocrine neoplasia 1 (MEN1) (ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDH....)
  • Multiple endocrine neoplasia 2 (MEN2) (ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDH....)
  • Multiple epiphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Multiple exostoses (type 1 and 2) (EXT1, EXT2....)
  • Multiple pterygium syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Multiple synostoses syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • MUTYH-associated polyposis (MAP) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • 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, NLRP1....)
  • Muckle wells syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • MHC class II deficiency, complementation group B (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • MASP2 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • 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....)
  • Malouf syndrome (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)