Names of Genes

Gene Chromosome Location Syndrome Category
MAB21L24q31.3MAB21 C. ELEGANS HOMOLOG-LIKE 2Autism spectrum
MACID9p23-p22MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENTAutism spectrum
MAE3p25.3MYOCLONIC-ATONIC EPILEPSYAutism spectrum
MAF16q23.2Cataract 21 multiple types (CTRCT21)Cataracts
MAGEL215q11.2Prader-WilliAutism spectrum
MAN2B119p13.13Alpha-mannosidosis type 1Ataxia spectrum
MAN2B119p13.13Alpha-mannosidosisPanic phobia anxiety
MAN2B119p13.13Alpha-mannosidosis type 2Cataracts
many1p361p36 monosomyAutism spectrum
MAOA23p11.3Monoamine oxidase A deficiencyAutism spectrum
MAP22q34MICROTUBULE-ASSOCIATED PROTEIN 2Autism spectrum
MAP2K115q22.31Noonan syndromeAutism spectrum
MAP2K115q22.31Cardiofaciocutaneous syndromeAutism spectrum
MAP2K115q22.31Langerhans cell histiocytosisDiabetes
MAP2K219p13.3Noonan syndromeAutism spectrum
MAP2K219p13.3Cardiofaciocutaneous syndromeAutism spectrum
MAP2K515q23Restless legs syndromeSleep disorders
MAP3K15q11.2Langerhans cell histiocytosisDiabetes
MAPK8IP111p11.2Type 2 DiabetesDiabetes
MAPT17q21.31Parkinson-dementia syndromeParkinsonism
MAPT17q21.31Progressive supranuclear palsyCerebral palsy
MARK11q41MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1Autism spectrum
MARS22q33.1Spastic ataxia autosomal recessive type 03Ataxia spectrum
MASP13q27-28Michels syndromeCleft lip / cleft palate
MAST119p13.13MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1Autism spectrum
MATR35q31.2ALSALS - amyotrophic lateral sclerosis
MBD118q21.1METHYL-CpG-BINDING DOMAIN PROTEIN 1Autism spectrum
MBD52q23.1Microcephaly - otherMicrocephaly
MBNL13q25.1Dystrophia myotonica 1 (DM1)Cataracts
MBNL13q25.1Corneal dystrophy Fuchs endothelial 3 (FECD3)Cataracts
MBOAT719q13.42Non-alcoholic fatty liver diseaseDiabetes
MBOAT719q13.42Mental retardation autosomal recessive 57Autism spectrum
MBS13q12.2-q13MOEBIUS SYNDROMEAutism spectrum
MBTPS223p22.12IFAP syndromePhotophobia - sensitivity to light
MC3DN76p21.31MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7Autism spectrum
MCCC13q27.13-methylcrotonyl-CoA carboxylase deficiencyReye`s Syndrome-like diseases
MCCC25q13.23-methylcrotonyl-CoA carboxylase deficiencyReye`s Syndrome-like diseases
MCCCHCM19p13.13MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIAAutism spectrum
MCEE2p13.3methylmalonic acidemiaVitamin B12 metabolism spectrum
MCM62q21Lactase deficiencyLactose intolerance
MCOP318q21.32MICROPHTHALMIA ISOLATED 3Autism spectrum
MCOP815q26.3MICROPHTHALMIA ISOLATED 8Autism spectrum
MCOPS123q28MICROPHTHALMIA SYNDROMIC 1Autism spectrum
MCPH18p23.1Autosomal recessive primary microcephalyMicrocephaly
MCPH151p34.2MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MCPH1712q24.23MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MCPH201q32.1MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MCPH2112p13.31MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MCR116q24.3Oculocutaneous albinism type 1Photophobia - sensitivity to light
MCSKS4q31.3MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROMEAutism spectrum
MDDGA1012q14.2MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10Autism spectrum
MDDGB19q34.13MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1Autism spectrum
MDM41q32.1MOUSE DOUBLE MINUTE 4 HOMOLOGAutism spectrum
MECP223q28Rett SyndromeAutism spectrum
MECP223q28.1Microcephaly - otherMicrocephaly
MED1223q13Lujan SyndromeAutism spectrum
MED1317q23.2Autism 18 (AUTS18)Autism spectrum
MED13L12q24.21Autism 18 (AUTS18)Autism spectrum
MED1711q14Microcephaly postnatal progressive with seizures and brain atrophyMicrocephaly
MED1711q21Thyroid disordersHypothyroidism
MED236q23.2Thyroid disordersHypothyroidism
MED279q34.13Autism 18 (AUTS18)Autism spectrum
MEF2C5q14.3Mental retardation autosomal dominant 20Autism spectrum
MEGF819q12Carpenter SyndromeAutism spectrum
MEHMO23p22.11MEHMO SYNDROMEAutism spectrum
MEIS12p14Restless legs syndromeSleep disorders
MEIS215q14Cleft palate cardiac defects and mental retardationCleft lip / cleft palate
MET7q31.2MET PROTOONCOGENEAutism spectrum
MFRP11q23.3Microphthalmia isolated 5 (MCOP5)Microphthalmia
MFSD2A1p34.2Microcephaly - otherMicrocephaly
MFSD84q28.2CLN7 diseaseAtaxia spectrum
MID123p22Opitz G/BBB syndromeCleft lip / cleft palate
MIPEP13q12.12Friedreich ataxiaAtaxia spectrum
Mir_5442p11.1-2Autism 18 (AUTS18)Autism spectrum
MIR13243p12.3Autism 18 (AUTS18)Autism spectrum
MIR18415q25.1Familial keratoconus with cataract (EDICT)Cataracts
MIR28619q34.11Thyroid disordersHypothyroidism
MIR3926-18p23.1Autism 18 (AUTS18)Autism spectrum
MIR3926-28p23.1Autism 18 (AUTS18)Autism spectrum
MIR42733p12.3Autism 18 (AUTS18)Autism spectrum
MIR548I24p16.1Autism 18 (AUTS18)Autism spectrum
MKHK116p13.3MENKE-HENNEKAM SYNDROME 1Autism spectrum
MKHK222q13.2MENKE-HENNEKAM SYNDROME 2Autism spectrum
MLC122q13.33Megalencephalic leukoencephalopathy with subcortical cysts type 01Ataxia spectrum
MLC2A11q24.2MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2AAutism spectrum
MLC2B11q24.2MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2BAutism spectrum
MMAA4q31.21methylmalonic acidemiaVitamin B12 metabolism spectrum
MMAB12q24.11methylmalonic acidemiaVitamin B12 metabolism spectrum
MMACHC1p34.1methylmalonic acidemia with homocystinuriaVitamin B12 metabolism spectrum
MMACHC1P34.1Microcephaly - otherMicrocephaly
MMADHC2q23.2methylmalonic acidemia with homocystinuriaVitamin B12 metabolism spectrum
MMP2110q26.2heterotaxy syndromeHeterotaxy
MMSDHC2q23.2Microcephaly - otherMicrocephaly
MMYAT1q22MYOPATHY MITOCHONDRIAL AND ATAXIAAutism spectrum
MOCS16p21.3Molybdenum cofactor deficiencyMicrocephaly
MOCS25q11Molybdenum cofactor deficiencyMicrocephaly
MPPH119p13.11MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1Autism spectrum
MPS3B17q21.2MUCOPOLYSACCHARIDOSIS TYPE IIIBAutism spectrum
MRD12q23.1 MENTAL RETARDATION AUTOSOMAL DOMINANT 1Autism spectrum
MRD1314q32.31MENTAL RETARDATION AUTOSOMAL DOMINANT 13Autism spectrum
MRD205q14.3Mental retardation autosomal dominant 20Autism spectrum
MRD2116q22.1MENTAL RETARDATION AUTOSOMAL DOMINANT 21Autism spectrum
MRD233p25.3MENTAL RETARDATION AUTOSOMAL DOMINANT 23Autism spectrum
MRD2411p15.5MENTAL RETARDATION AUTOSOMAL DOMINANT 24Autism spectrum
MRD267q11.22MENTAL RETARDATION AUTOSOMAL DOMINANT 26Autism spectrum
MRD2918q12.3MENTAL RETARDATION AUTOSOMAL DOMINANT 29Autism spectrum
MRD3010p15.3MENTAL RETARDATION AUTOSOMAL DOMINANT 30Autism spectrum
MRD328p11.21MENTAL RETARDATION AUTOSOMAL DOMINANT 32Autism spectrum
MRD3820q13.33MENTAL RETARDATION AUTOSOMAL DOMINANT 38Autism spectrum
MRD392p25.3MENTAL RETARDATION AUTOSOMAL DOMINANT 39Autism spectrum
MRD4013q34Mental retardation autosomal dominant 40Autism spectrum
MRD413q26.32MENTAL RETARDATION AUTOSOMAL DOMINANT 41Autism spectrum
MRD421p36.33MENTAL RETARDATION AUTOSOMAL DOMINANT 42Autism spectrum
MRD436q24.2MENTAL RETARDATION AUTOSOMAL DOMINANT 43Autism spectrum
MRD445p15.2Mental retardation autosomal dominant 44Autism spectrum
MRD4519q13.2MENTAL RETARDATION AUTOSOMAL DOMINANT 45Autism spectrum
MRD473q22.3MENTAL RETARDATION AUTOSOMAL DOMINANT 47Autism spectrum
MRD492q36.3Mental retardation autosomal dominant 49Autism spectrum
MRD56p21.32 MENTAL RETARDATION AUTOSOMAL DOMINANT 5Autism spectrum
MRD504q31.1MENTAL RETARDATION AUTOSOMAL DOMINANT 50Autism spectrum
MRD5111q13.2 MENTAL RETARDATION AUTOSOMAL DOMINANT 51Autism spectrum
MRD521q22MENTAL RETARDATION AUTOSOMAL DOMINANT 52Autism spectrum
MRD535q32MENTAL RETARDATION AUTOSOMAL DOMINANT 53Autism spectrum
MRD547p13MENTAL RETARDATION AUTOSOMAL DOMINANT 54Autism spectrum
MRD556q22.1Mental retardation autosomal dominant 55 with seizuresEpilepsy and seizures
MRD5717q23.2Mental retardation autosomal dominant 57Autism spectrum
MRD612p13.1MENTAL RETARDATION AUTOSOMAL DOMINANT 6Autism spectrum
MRD721q22.13MENTAL RETARDATION AUTOSOMAL DOMINANT 7Autism spectrum
MRFACD12q24.21MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURESAutism spectrum
MRT138q24.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 13Autism spectrum
MRT159q34.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 15Autism spectrum
MRT23p26.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 2Autism spectrum
MRT2512q13.11-q15MENTAL RETARDATION AUTOSOMAL RECESSIVE 25Autism spectrum
MRT294q27-q28.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 29Autism spectrum
MRT319p13.12MENTAL RETARDATION AUTOSOMAL RECESSIVE 3Autism spectrum
MRT3412q22MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALYAutism spectrum
MRT3815q13.1MENTAL RETARDATION AUTOSOMAL RECESSIVE 38Autism spectrum
MRT4119q13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 41Autism spectrum
MRT4417q25.1MENTAL RETARDATION AUTOSOMAL RECESSIVE 44Autism spectrum
MRT55p15.31MENTAL RETARDATION AUTOSOMAL RECESSIVE 5Autism spectrum
MRT534p16.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 53Autism spectrum
MRT5719q13.42Mental retardation autosomal recessive 57Autism spectrum
MRT619p13.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 61Autism spectrum
MRT6612p13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 66Autism spectrum
MRT78p22MENTAL RETARDATION AUTOSOMAL RECESSIVE 7Autism spectrum
MRT703q25.32INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70Autism spectrum
MRX123p11.22Mental retardation X-linked 1Autism spectrum
MRX10223p11.4MENTAL RETARDATION X-LINKED 102Autism spectrum
MRX10423p22.2MENTAL RETARDATION X-LINKED 104Autism spectrum
MRX2123P21.2-3MENTAL RETARDATION X-LINKED 21Autism spectrum
MRX6323q23MENTAL RETARDATION X-LINKED 63Autism spectrum
MRX7223q28MENTAL RETARDATION X-LINKED 72Autism spectrum
MRX7323p22.2MENTAL RETARDATION X-LINKED 73Autism spectrum
MRX8223q24-q25MENTAL RETARDATION X-LINKED 82Autism spectrum
MRX8823q24MENTAL RETARDATION X-LINKED 88Autism spectrum
MRX923p11.23MENTAL RETARDATION X-LINKED 9Autism spectrum
MRX9723q21.1MENTAL RETARDATION X-LINKED 97Autism spectrum
MRX9823q13.3MENTAL RETARDATION X-LINKED 98Autism spectrum
MRXS1323q28MENTAL RETARDATION X-LINKED SYNDROMIC 13Autism spectrum
MRXS1423q24MENTAL RETARDATION X-LINKED SYNDROMIC 14Autism spectrum
MRXS3323q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 33Autism spectrum
MRXS3423q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 34Autism spectrum
MRXS99F23p11.4MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTEDAutism spectrum
MRXSB23q22.1MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPEAutism spectrum
MRXSCH23q26.3MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPEAutism spectrum
MRXSCJ23p11.22MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPEAutism spectrum
MRXSHG23p22.12MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPEAutism spectrum
MRXSL23q28LUBS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
MRXSRC23p22.2RAYNAUD-CLAES SYNDROMEAutism spectrum
MRXSSD23p11.22 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
MRXST23p11.22MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPEAutism spectrum
MRXSW23q25MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPEAutism spectrum
MSR18p22Alzheimer - late onsetAlzheimer Syndrome
MSX14p16.2Microcephaly - otherMicrocephaly
MSX14p16.2Wolf-Hirschhorn syndromeCleft lip / cleft palate
MT-ATP608527-9207Leigh syndromeMicrocephaly
MT-ATP608527Neuropathy ataxia and retinitis pigmentosaAtaxia spectrum
MTHFR1p36.3Methylenetetrahydrofolate reductase error syndromeCleft lip / cleft palate
MT-ND103307Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodesAtaxia spectrum
MT-ND5012337Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodesAtaxia spectrum
MTNR1B11q14.3Gestational diabetesDiabetes
MTOR1p36.22MECHANISTIC TARGET OF RAPAMYCINAutism spectrum
MTR1q43HomocystinuriaVitamin B12 metabolism spectrum
MTRR5p15.31HomocystinuriaVitamin B12 metabolism spectrum
MT-TE014674-742Maternally inherited diabetes and deafnessDiabetes
MT-TF0577-647Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TF0577Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TH012138-206Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TH012138Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TI04263Progressive external ophthalmoplegiaAtaxia spectrum
MT-TK08295-8364Maternally inherited diabetes and deafnessDiabetes
MT-TK08295-364Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TK08295Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TL103230-3304Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TL103230-304Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TL103230-3304Maternally inherited diabetes and deafnessDiabetes
MTTP4q23AbetalipoproteinemiaAtaxia spectrum
MT-TP015956Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TP015956Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TS107446-514Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TS107446Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TS2012207Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
MT-TS2012207-65Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TT015888-953Myoclonic epilepsy with ragged-red fibersEpilepsy and seizures
MT-TV01602Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodesAtaxia spectrum
MUC211p15.5Ulcerative colitisIrritable Bowel Disorders
MUC211p15.5Crohn DiseaseIrritable Bowel Disorders
MUC74q13.3Asthma-related traits (ASRT)Asthma
multiple12iso(p)Pallister-Killian mosaic syndromeCleft lip / cleft palate
MUT6p12.3methylmalonic acidemiaVitamin B12 metabolism spectrum
MVK12q24.11Mevalonate kinase deficiencyMicrocephaly
MYBPC112q23.2Distal arthrogryposis type 1Arthrogryposis spectrum
MYCN2p24.3Feingold syndromeMicrocephaly
MYD883p22.2Waldenström macroglobulinemiaAtaxia spectrum
MYH1317p13.1Arthrogryposis - otherArthrogryposis spectrum
MYH217p13.1Arthrogryposis - otherArthrogryposis spectrum
MYH317p13.1Freeman-Sheldon or Sheldon-HallArthrogryposis spectrum
MYH317p13.1Freeman-Sheldon syndromeTachycardia (>100 beats/minute)
MYH614q12Sick sinus syndromeBradycardia (<60 beats/minute)
MYH817p13.1Trismus-pseudocamptodactylyArthrogryposis spectrum
MYH817p13.1Distal arthrogryposis type 7Arthrogryposis spectrum
MYH922q12.3MYH9-related disorderCataracts
MYHRS18q21.2Myhre syndromeCleft lip / cleft palate
MYO5A15q21.2Griscelli syndromeAutism spectrum
MYO9B19p13.11Ulcerative colitisIrritable Bowel Disorders
MYOT5q31.2Myofibrillar myopathyMuscular dystrophies
MYT1L2p25.3Mental retardation autosomal dominant 37 (MRD37)Autism spectrum


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