Gene |
Chromosome |
Location |
Syndrome |
Category |
MAB21L2 | 4 | q31.3 | MAB21 C. ELEGANS HOMOLOG-LIKE 2 | Autism spectrum | |
MACID | 9 | p23-p22 | MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT | Autism spectrum | |
MAE | 3 | p25.3 | MYOCLONIC-ATONIC EPILEPSY | Autism spectrum | |
MAF | 16 | q23.2 | Cataract 21 multiple types (CTRCT21) | Cataracts | |
MAGEL2 | 15 | q11.2 | Prader-Willi | Autism spectrum | |
MAN2B1 | 19 | p13.13 | Alpha-mannosidosis type 1 | Ataxia spectrum | |
MAN2B1 | 19 | p13.13 | Alpha-mannosidosis | Panic phobia anxiety | |
MAN2B1 | 19 | p13.13 | Alpha-mannosidosis type 2 | Cataracts | |
many | 1 | p36 | 1p36 monosomy | Autism spectrum | |
MAOA | 23 | p11.3 | Monoamine oxidase A deficiency | Autism spectrum | |
MAP2 | 2 | q34 | MICROTUBULE-ASSOCIATED PROTEIN 2 | Autism spectrum | |
MAP2K1 | 15 | q22.31 | Noonan syndrome | Autism spectrum | |
MAP2K1 | 15 | q22.31 | Cardiofaciocutaneous syndrome | Autism spectrum | |
MAP2K1 | 15 | q22.31 | Langerhans cell histiocytosis | Diabetes | |
MAP2K2 | 19 | p13.3 | Noonan syndrome | Autism spectrum | |
MAP2K2 | 19 | p13.3 | Cardiofaciocutaneous syndrome | Autism spectrum | |
MAP2K5 | 15 | q23 | Restless legs syndrome | Sleep disorders | |
MAP3K1 | 5 | q11.2 | Langerhans cell histiocytosis | Diabetes | |
MAPK8IP1 | 11 | p11.2 | Type 2 Diabetes | Diabetes | |
MAPT | 17 | q21.31 | Parkinson-dementia syndrome | Parkinsonism |
MAPT | 17 | q21.31 | Progressive supranuclear palsy | Cerebral palsy | |
MARK1 | 1 | q41 | MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1 | Autism spectrum | |
MARS2 | 2 | q33.1 | Spastic ataxia autosomal recessive type 03 | Ataxia spectrum | |
MASP1 | 3 | q27-28 | Michels syndrome | Cleft lip / cleft palate | |
MAST1 | 19 | p13.13 | MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1 | Autism spectrum | |
MATR3 | 5 | q31.2 | ALS | ALS - amyotrophic lateral sclerosis | |
MBD1 | 18 | q21.1 | METHYL-CpG-BINDING DOMAIN PROTEIN 1 | Autism spectrum | |
MBD5 | 2 | q23.1 | Microcephaly - other | Microcephaly | |
MBNL1 | 3 | q25.1 | Dystrophia myotonica 1 (DM1) | Cataracts | |
MBNL1 | 3 | q25.1 | Corneal dystrophy Fuchs endothelial 3 (FECD3) | Cataracts | |
MBOAT7 | 19 | q13.42 | Non-alcoholic fatty liver disease | Diabetes | |
MBOAT7 | 19 | q13.42 | Mental retardation autosomal recessive 57 | Autism spectrum | |
MBS | 13 | q12.2-q13 | MOEBIUS SYNDROME | Autism spectrum | |
MBTPS2 | 23 | p22.12 | IFAP syndrome | Photophobia - sensitivity to light | |
MC3DN7 | 6 | p21.31 | MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7 | Autism spectrum | |
MCCC1 | 3 | q27.1 | 3-methylcrotonyl-CoA carboxylase deficiency | Reye`s Syndrome-like diseases | |
MCCC2 | 5 | q13.2 | 3-methylcrotonyl-CoA carboxylase deficiency | Reye`s Syndrome-like diseases | |
MCCCHCM | 19 | p13.13 | MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA | Autism spectrum | |
MCEE | 2 | p13.3 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MCM6 | 2 | q21 | Lactase deficiency | Lactose intolerance | |
MCOP3 | 18 | q21.32 | MICROPHTHALMIA ISOLATED 3 | Autism spectrum | |
MCOP8 | 15 | q26.3 | MICROPHTHALMIA ISOLATED 8 | Autism spectrum | |
MCOPS1 | 23 | q28 | MICROPHTHALMIA SYNDROMIC 1 | Autism spectrum | |
MCPH1 | 8 | p23.1 | Autosomal recessive primary microcephaly | Microcephaly | |
MCPH15 | 1 | p34.2 | MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
MCPH17 | 12 | q24.23 | MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
MCPH20 | 1 | q32.1 | MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
MCPH21 | 12 | p13.31 | MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
MCR1 | 16 | q24.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
MCSKS | 4 | q31.3 | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | Autism spectrum | |
MDDGA10 | 12 | q14.2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10 | Autism spectrum | |
MDDGB1 | 9 | q34.13 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1 | Autism spectrum | |
MDM4 | 1 | q32.1 | MOUSE DOUBLE MINUTE 4 HOMOLOG | Autism spectrum | |
MECP2 | 23 | q28 | Rett Syndrome | Autism spectrum | |
MECP2 | 23 | q28.1 | Microcephaly - other | Microcephaly | |
MED12 | 23 | q13 | Lujan Syndrome | Autism spectrum | |
MED13 | 17 | q23.2 | Autism 18 (AUTS18) | Autism spectrum | |
MED13L | 12 | q24.21 | Autism 18 (AUTS18) | Autism spectrum | |
MED17 | 11 | q14 | Microcephaly postnatal progressive with seizures and brain atrophy | Microcephaly | |
MED17 | 11 | q21 | Thyroid disorders | Hypothyroidism | |
MED23 | 6 | q23.2 | Thyroid disorders | Hypothyroidism | |
MED27 | 9 | q34.13 | Autism 18 (AUTS18) | Autism spectrum | |
MEF2C | 5 | q14.3 | Mental retardation autosomal dominant 20 | Autism spectrum | |
MEGF8 | 19 | q12 | Carpenter Syndrome | Autism spectrum | |
MEHMO | 23 | p22.11 | MEHMO SYNDROME | Autism spectrum | |
MEIS1 | 2 | p14 | Restless legs syndrome | Sleep disorders | |
MEIS2 | 15 | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
MET | 7 | q31.2 | MET PROTOONCOGENE | Autism spectrum | |
MFRP | 11 | q23.3 | Microphthalmia isolated 5 (MCOP5) | Microphthalmia | |
MFSD2A | 1 | p34.2 | Microcephaly - other | Microcephaly | |
MFSD8 | 4 | q28.2 | CLN7 disease | Ataxia spectrum | |
MID1 | 23 | p22 | Opitz G/BBB syndrome | Cleft lip / cleft palate | |
MIPEP | 13 | q12.12 | Friedreich ataxia | Ataxia spectrum | |
Mir_544 | 2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
MIR1324 | 3 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
MIR184 | 15 | q25.1 | Familial keratoconus with cataract (EDICT) | Cataracts | |
MIR2861 | 9 | q34.11 | Thyroid disorders | Hypothyroidism | |
MIR3926-1 | 8 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
MIR3926-2 | 8 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
MIR4273 | 3 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
MIR548I2 | 4 | p16.1 | Autism 18 (AUTS18) | Autism spectrum | |
MKHK1 | 16 | p13.3 | MENKE-HENNEKAM SYNDROME 1 | Autism spectrum | |
MKHK2 | 22 | q13.2 | MENKE-HENNEKAM SYNDROME 2 | Autism spectrum | |
MLC1 | 22 | q13.33 | Megalencephalic leukoencephalopathy with subcortical cysts type 01 | Ataxia spectrum | |
MLC2A | 11 | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | Autism spectrum | |
MLC2B | 11 | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B | Autism spectrum | |
MMAA | 4 | q31.21 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MMAB | 12 | q24.11 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MMACHC | 1 | p34.1 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
MMACHC | 1 | P34.1 | Microcephaly - other | Microcephaly | |
MMADHC | 2 | q23.2 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
MMP21 | 10 | q26.2 | heterotaxy syndrome | Heterotaxy | |
MMSDHC | 2 | q23.2 | Microcephaly - other | Microcephaly | |
MMYAT | 1 | q22 | MYOPATHY MITOCHONDRIAL AND ATAXIA | Autism spectrum | |
MOCS1 | 6 | p21.3 | Molybdenum cofactor deficiency | Microcephaly | |
MOCS2 | 5 | q11 | Molybdenum cofactor deficiency | Microcephaly | |
MPPH1 | 19 | p13.11 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | Autism spectrum | |
MPS3B | 17 | q21.2 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | Autism spectrum | |
MRD1 | 2 | q23.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 1 | Autism spectrum | |
MRD13 | 14 | q32.31 | MENTAL RETARDATION AUTOSOMAL DOMINANT 13 | Autism spectrum | |
MRD20 | 5 | q14.3 | Mental retardation autosomal dominant 20 | Autism spectrum | |
MRD21 | 16 | q22.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 21 | Autism spectrum | |
MRD23 | 3 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 23 | Autism spectrum | |
MRD24 | 11 | p15.5 | MENTAL RETARDATION AUTOSOMAL DOMINANT 24 | Autism spectrum | |
MRD26 | 7 | q11.22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 26 | Autism spectrum | |
MRD29 | 18 | q12.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 29 | Autism spectrum | |
MRD30 | 10 | p15.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 30 | Autism spectrum | |
MRD32 | 8 | p11.21 | MENTAL RETARDATION AUTOSOMAL DOMINANT 32 | Autism spectrum | |
MRD38 | 20 | q13.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 38 | Autism spectrum | |
MRD39 | 2 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 39 | Autism spectrum | |
MRD40 | 13 | q34 | Mental retardation autosomal dominant 40 | Autism spectrum | |
MRD41 | 3 | q26.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 41 | Autism spectrum | |
MRD42 | 1 | p36.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 42 | Autism spectrum | |
MRD43 | 6 | q24.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 43 | Autism spectrum | |
MRD44 | 5 | p15.2 | Mental retardation autosomal dominant 44 | Autism spectrum | |
MRD45 | 19 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 45 | Autism spectrum | |
MRD47 | 3 | q22.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 47 | Autism spectrum | |
MRD49 | 2 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
MRD5 | 6 | p21.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 5 | Autism spectrum | |
MRD50 | 4 | q31.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 50 | Autism spectrum | |
MRD51 | 11 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 51 | Autism spectrum | |
MRD52 | 1 | q22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 52 | Autism spectrum | |
MRD53 | 5 | q32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 53 | Autism spectrum | |
MRD54 | 7 | p13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 54 | Autism spectrum | |
MRD55 | 6 | q22.1 | Mental retardation autosomal dominant 55 with seizures | Epilepsy and seizures | |
MRD57 | 17 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
MRD6 | 12 | p13.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 6 | Autism spectrum | |
MRD7 | 21 | q22.13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 7 | Autism spectrum | |
MRFACD | 12 | q24.21 | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES | Autism spectrum | |
MRT13 | 8 | q24.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 | Autism spectrum | |
MRT15 | 9 | q34.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 15 | Autism spectrum | |
MRT2 | 3 | p26.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 2 | Autism spectrum | |
MRT25 | 12 | q13.11-q15 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 25 | Autism spectrum | |
MRT29 | 4 | q27-q28.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 29 | Autism spectrum | |
MRT3 | 19 | p13.12 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 3 | Autism spectrum | |
MRT34 | 12 | q22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY | Autism spectrum | |
MRT38 | 15 | q13.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 38 | Autism spectrum | |
MRT41 | 19 | q13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 41 | Autism spectrum | |
MRT44 | 17 | q25.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 44 | Autism spectrum | |
MRT5 | 5 | p15.31 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 5 | Autism spectrum | |
MRT53 | 4 | p16.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 53 | Autism spectrum | |
MRT57 | 19 | q13.42 | Mental retardation autosomal recessive 57 | Autism spectrum | |
MRT61 | 9 | p13.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 | Autism spectrum | |
MRT66 | 12 | p13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 | Autism spectrum | |
MRT7 | 8 | p22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 | Autism spectrum | |
MRT70 | 3 | q25.32 | INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70 | Autism spectrum | |
MRX1 | 23 | p11.22 | Mental retardation X-linked 1 | Autism spectrum | |
MRX102 | 23 | p11.4 | MENTAL RETARDATION X-LINKED 102 | Autism spectrum | |
MRX104 | 23 | p22.2 | MENTAL RETARDATION X-LINKED 104 | Autism spectrum | |
MRX21 | 23 | P21.2-3 | MENTAL RETARDATION X-LINKED 21 | Autism spectrum | |
MRX63 | 23 | q23 | MENTAL RETARDATION X-LINKED 63 | Autism spectrum | |
MRX72 | 23 | q28 | MENTAL RETARDATION X-LINKED 72 | Autism spectrum | |
MRX73 | 23 | p22.2 | MENTAL RETARDATION X-LINKED 73 | Autism spectrum | |
MRX82 | 23 | q24-q25 | MENTAL RETARDATION X-LINKED 82 | Autism spectrum | |
MRX88 | 23 | q24 | MENTAL RETARDATION X-LINKED 88 | Autism spectrum | |
MRX9 | 23 | p11.23 | MENTAL RETARDATION X-LINKED 9 | Autism spectrum | |
MRX97 | 23 | q21.1 | MENTAL RETARDATION X-LINKED 97 | Autism spectrum | |
MRX98 | 23 | q13.3 | MENTAL RETARDATION X-LINKED 98 | Autism spectrum | |
MRXS13 | 23 | q28 | MENTAL RETARDATION X-LINKED SYNDROMIC 13 | Autism spectrum | |
MRXS14 | 23 | q24 | MENTAL RETARDATION X-LINKED SYNDROMIC 14 | Autism spectrum | |
MRXS33 | 23 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 33 | Autism spectrum | |
MRXS34 | 23 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 34 | Autism spectrum | |
MRXS99F | 23 | p11.4 | MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED | Autism spectrum | |
MRXSB | 23 | q22.1 | MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE | Autism spectrum | |
MRXSCH | 23 | q26.3 | MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE | Autism spectrum | |
MRXSCJ | 23 | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE | Autism spectrum | |
MRXSHG | 23 | p22.12 | MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE | Autism spectrum | |
MRXSL | 23 | q28 | LUBS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
MRXSRC | 23 | p22.2 | RAYNAUD-CLAES SYNDROME | Autism spectrum | |
MRXSSD | 23 | p11.22 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
MRXST | 23 | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE | Autism spectrum | |
MRXSW | 23 | q25 | MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPE | Autism spectrum | |
MSR1 | 8 | p22 | Alzheimer - late onset | Alzheimer Syndrome | |
MSX1 | 4 | p16.2 | Microcephaly - other | Microcephaly | |
MSX1 | 4 | p16.2 | Wolf-Hirschhorn syndrome | Cleft lip / cleft palate | |
MT-ATP6 | 0 | 8527-9207 | Leigh syndrome | Microcephaly | |
MT-ATP6 | 0 | 8527 | Neuropathy ataxia and retinitis pigmentosa | Ataxia spectrum | |
MTHFR | 1 | p36.3 | Methylenetetrahydrofolate reductase error syndrome | Cleft lip / cleft palate | |
MT-ND1 | 0 | 3307 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | Ataxia spectrum | |
MT-ND5 | 0 | 12337 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | Ataxia spectrum | |
MTNR1B | 11 | q14.3 | Gestational diabetes | Diabetes | |
MTOR | 1 | p36.22 | MECHANISTIC TARGET OF RAPAMYCIN | Autism spectrum | |
MTR | 1 | q43 | Homocystinuria | Vitamin B12 metabolism spectrum | |
MTRR | 5 | p15.31 | Homocystinuria | Vitamin B12 metabolism spectrum | |
MT-TE | 0 | 14674-742 | Maternally inherited diabetes and deafness | Diabetes | |
MT-TF | 0 | 577-647 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TF | 0 | 577 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TH | 0 | 12138-206 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TH | 0 | 12138 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TI | 0 | 4263 | Progressive external ophthalmoplegia | Ataxia spectrum | |
MT-TK | 0 | 8295-8364 | Maternally inherited diabetes and deafness | Diabetes | |
MT-TK | 0 | 8295-364 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TK | 0 | 8295 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TL1 | 0 | 3230-3304 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TL1 | 0 | 3230-304 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TL1 | 0 | 3230-3304 | Maternally inherited diabetes and deafness | Diabetes | |
MTTP | 4 | q23 | Abetalipoproteinemia | Ataxia spectrum | |
MT-TP | 0 | 15956 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TP | 0 | 15956 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TS1 | 0 | 7446-514 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TS1 | 0 | 7446 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TS2 | 0 | 12207 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
MT-TS2 | 0 | 12207-65 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TT | 0 | 15888-953 | Myoclonic epilepsy with ragged-red fibers | Epilepsy and seizures | |
MT-TV | 0 | 1602 | Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes | Ataxia spectrum | |
MUC2 | 11 | p15.5 | Ulcerative colitis | Irritable Bowel Disorders | |
MUC2 | 11 | p15.5 | Crohn Disease | Irritable Bowel Disorders | |
MUC7 | 4 | q13.3 | Asthma-related traits (ASRT) | Asthma | |
multiple | 12 | iso(p) | Pallister-Killian mosaic syndrome | Cleft lip / cleft palate | |
MUT | 6 | p12.3 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MVK | 12 | q24.11 | Mevalonate kinase deficiency | Microcephaly | |
MYBPC1 | 12 | q23.2 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
MYCN | 2 | p24.3 | Feingold syndrome | Microcephaly | |
MYD88 | 3 | p22.2 | Waldenström macroglobulinemia | Ataxia spectrum | |
MYH13 | 17 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
MYH2 | 17 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
MYH3 | 17 | p13.1 | Freeman-Sheldon or Sheldon-Hall | Arthrogryposis spectrum | |
MYH3 | 17 | p13.1 | Freeman-Sheldon syndrome | Tachycardia (>100 beats/minute) | |
MYH6 | 14 | q12 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
MYH8 | 17 | p13.1 | Trismus-pseudocamptodactyly | Arthrogryposis spectrum | |
MYH8 | 17 | p13.1 | Distal arthrogryposis type 7 | Arthrogryposis spectrum | |
MYH9 | 22 | q12.3 | MYH9-related disorder | Cataracts | |
MYHRS | 18 | q21.2 | Myhre syndrome | Cleft lip / cleft palate | |
MYO5A | 15 | q21.2 | Griscelli syndrome | Autism spectrum | |
MYO9B | 19 | p13.11 | Ulcerative colitis | Irritable Bowel Disorders | |
MYOT | 5 | q31.2 | Myofibrillar myopathy | Muscular dystrophies | |
MYT1L | 2 | p25.3 | Mental retardation autosomal dominant 37 (MRD37) | Autism spectrum | |