A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) 177075 MAF database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 300016 MAGEA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA11 melanoma antigen family A, 11 300344 MAGEA11 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA12 melanoma antigen family A, 12 300177 MAGEA12 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA3 melanoma antigen family A, 3 300174 MAGEA3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA4 melanoma antigen family A, 4 300175 MAGEA4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA5 melanoma antigen family A, 5 300340 MAGEA5 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEA8 melanoma antigen family A, 8 300341 MAGEA8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB1 melanoma antigen family B, 1 300097 MAGEB1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB10 melanoma antigen family B, 10 300761 MAGEB10 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB18 melanoma antigen family B, 18 \N MAGEB18 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB2 melanoma antigen family B, 2 300098 MAGEB2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB3 melanoma antigen family B, 3 300152 MAGEB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB4 melanoma antigen family B, 4 300153 MAGEB4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB5 melanoma antigen family B, 5 300466 MAGEB5 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEB6 melanoma antigen family B, 6 300467 MAGEB6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEC1 melanoma antigen family C, 1 300223 MAGEC1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEC2 melanoma antigen family C, 2 300468 MAGEC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEC3 melanoma antigen family C, 3 300469 MAGEC3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGED1 melanoma antigen family D, 1 300224 MAGED1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGED2 melanoma antigen family D, 2 300470 MAGED2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEE1 melanoma antigen family E, 1 300759 MAGEE1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEE2 melanoma antigen family E, 2 300760 MAGEE2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEH1 melanoma antigen family H, 1 300548 MAGEH1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGT1 magnesium transporter 1 300715 MAGT1 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAMLD1 mastermind-like domain containing 1 300120 MAMLD1 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAOA monoamine oxidase A 309850 MAOA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAOB monoamine oxidase B 309860 MAOB database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAP2K1 mitogen-activated protein kinase kinase 1 176872 Mitogen-activated protein kinase kinase 1 (MAP2K1) database Belinda Giardine and Joseph Borg
MAP3K15 mitogen-activated protein kinase kinase kinase 15 \N MAP3K15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAP3K5 mitogen-activated protein kinase kinase kinase 5 602448 Mitogen-activated protein kinase kinase kinase 5 (MAP3K5) database Belinda Giardine and Joseph Borg
MAP3K7 mitogen-activated protein kinase kinase kinase 7 602614 Mitogen-activated protein kinase kinase kinase 7 (MAP3K7) Belinda Giardine and Joseph Borg
MAP7D2 MAP7 domain containing 2 \N MAP7D2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAP7D3 MAP7 domain containing 3 \N MAP7D3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAPT microtubule-associated protein tau 157140 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts and Nathalie Brouwers, Neurogenerative Brain Diseases Group, VIB Department of Molecular Genetics, Flanders Institute for Biotechnology and, University of Antwerp - Campus CDE, Belgium
MASP2 mannan-binding lectin serine peptidase 2 605102 MASP2base: Mutation registry for MASP-2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MATR3 matrin 3 164015 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
MBNL3 muscleblind-like 3 (Drosophila) 300413 MBNL3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MBTPS2 membrane-bound transcription factor peptidase, site 2 300294 Membrane-Bound Transcription factor Peptidase, site 2 (MBTPS2) Mental Retardation Database Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands
MCEE methylmalonyl CoA epimerase 608419 Zhejiang University Center for Genetic and Genomic Medicine - MCEE Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MCF2 MCF.2 cell line derived transforming sequence 311030 MCF2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MECP2 methyl CpG binding protein 2 (Rett syndrome) 300005 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
MECP2 methyl CpG binding protein 2 (Rett syndrome) 300005 RettBASE John Christodoulou, Andrew Grimm, Children's Hospital, Westmead, Sydney, Australia
MECP2 methyl CpG binding protein 2 (Rett syndrome) 300005 MECP2 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MED12 mediator complex subunit 12 300188 MED12 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MED14 mediator complex subunit 14 300182 MED14 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MEFV Mediterranean fever 608107 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Isabelle Touitou, Laboratory of Genetics, A de Villeneuve Hospital, Montpellier, France
MEN1 multiple endocrine neoplasia I 613733 Multiple endocrine neoplasia and MEN1 missense variants Database Kelli Sumner, University of Utah, ARUP Laboratories
MEN1 multiple endocrine neoplasia I 613733 The UMD MEN1 mutations database Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France
MERTK c-mer proto-oncogene tyrosine kinase 604705 Mutations of the MER Receptor Tyrosine Kinase Gene Retina International
MFN2 mitofusin 2 608507 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
MFSD8 major facilitator superfamily domain containing 8 611124 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 602616 Congenital Disorder of Glycosylation pages Gert Matthijs, Center for Human Genetics, Leuven, Belgium
MICA MHC class I polypeptide-related sequence A 600169 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
MICB MHC class I polypeptide-related sequence B 602436 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
MID1 midline 1 (Opitz/BBB syndrome) 300552 MID1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MID2 midline 2 300204 MID2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MITF microphthalmia-associated transcription factor 156845 MITF database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
MKKS McKusick-Kaufman syndrome 604896 EURO-WABB Project Open Variation Database Dewi Astuti
MKKS McKusick-Kaufman syndrome 604896 Mutations of the McKusick-Kaufman Gene Retina International
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 Mismatch Repair Genes Variant Database Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 120436 Zhejiang University-Adinovo Center MLH1 Database Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang
MLH3 mutL homolog 3 (E. coli) 604395 Zhejiang University-Adinovo Center MLH3 Database Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
MLH3 mutL homolog 3 (E. coli) 604395 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
MLPH melanophilin 606526 MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MLYCD malonyl-CoA decarboxylase 606761 MLYCD Allelic Variant Database Graeme Grimes & Isabel Hanson, MRC Human Genetics Unit, Edinburg, UK
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 607481 Zhejiang University Center for Genetic and Genomic Medicine - MMAA Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 607568 Zhejiang University Center for Genetic and Genomic Medicine - MMAB Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 609831 Zhejiang University Center for Genetic and Genomic Medicine - MMACHC Ming Qi, PhD, FACMG
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 611935 Zhejiang University Center for Genetic and Genomic Medicine - MMADHC Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MOGS mannosyl-oligosaccharide glucosidase 601336 Congenital Disorder of Glycosylation pages Gert Matthijs, Center for Human Genetics, Leuven, Belgium
MORC4 MORC family CW-type zinc finger 4 \N MORC4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MOSPD2 motile sperm domain containing 2 \N MOSPD2 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MPDU1 mannose-P-dolichol utilization defect 1 604041 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
MPI mannose phosphate isomerase 154550 Congenital Disorder of Glycosylation pages Gert Matthijs, Center for Human Genetics, Leuven, Belgium
MPL myeloproliferative leukemia virus oncogene 159530 Mendelian genes (MPL2) Mathias Vilaine, Nantes, France
MPO myeloperoxidase 606989 MPObase: Mutation registry for Myeloperoxidase deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MPP1 membrane protein, palmitoylated 1, 55kDa 305360 MPP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MPZ myelin protein zero 159440 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 600814 MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 Mismatch Repair Genes Variant Database Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 609309 Zhejiang University-Adinovo Center MSH2 Database Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
MSH6 mutS homolog 6 (E. coli) 600678 MSH6 database at LOVD Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada
MSH6 mutS homolog 6 (E. coli) 600678 Zhejiang University-Adinovo Center MSH6 Database Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
MSH6 mutS homolog 6 (E. coli) 600678 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
MSH6 mutS homolog 6 (E. coli) 600678 Mismatch Repair Genes Variant Database Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada
MSL3 male-specific lethal 3 homolog (Drosophila) 300609 MSL3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MSN moesin 309845 MSN database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MSTN myostatin 601788 Leiden Muscular Dystrophy Pages Willem Hoogaars & Johan den Dunnen
MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) 590085 Mutations of the Second Mitochondrial Serine tRNA Gene Retina International
MTM1 myotubularin 1 300415 Leiden Muscular Dystrophy Pages Jorge Oliveira & Johan den Dunnen
MTMR1 myotubularin related protein 1 300171 MTMR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MTMR14 myotubularin related protein 14 611089 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
MTMR2 myotubularin related protein 2 603557 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
MTMR8 myotubularin related protein 8 \N MTMR8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 156570 Zhejiang University Center for Genetic and Genomic Medicine - MTR Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 602568 Zhejiang University Center for Genetic and Genomic Medicine - MTRR Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MUM1L1 melanoma associated antigen (mutated) 1-like 1 \N MUM1L1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MUT methylmalonyl CoA mutase 609058 Zhejiang University Center for Genetic and Genomic Medicine - MUT Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
MUTYH mutY homolog (E. coli) 604933 MUTYH - mutY homolog Astrid Out & Carli Tops, LUMC, Leiden, Nederland
MVK mevalonate kinase 251170 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Laurence Cuisset & Hans Waterham, Génétique Développement et Pathologie Moléculaire, Institut Cochin de Génétique Moléculaire, Paris, France
MXRA5 matrix-remodelling associated 5 \N MXRA5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MYB v-myb myeloblastosis viral oncogene homolog (avian) 189990 Homo sapiens v-myb myeloblastosis viral oncogene homolog (MYB) database Belinda Giardine and Joseph Borg
MYBPC3 myosin binding protein C, cardiac 600958 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
MYBPC3 myosin binding protein C, cardiac 600958 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School
MYH7 myosin, heavy chain 7, cardiac muscle, beta 160760 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
MYH7 myosin, heavy chain 7, cardiac muscle, beta 160760 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
MYH9 myosin, heavy chain 9, non-muscle 160775 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
MYL2 myosin, light chain 2, regulatory, cardiac, slow 160781 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
MYL2 myosin, light chain 2, regulatory, cardiac, slow 160781 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 160790 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
MYO15A myosin XVA 602666 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
MYO5A myosin VA (heavy chain 12, myoxin) 160777 MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MYO6 myosin VI 600970 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
MYO6 myosin VI 600970 CCHMC-BMI & UC Hearing Loss Mutation Database Ammar Husami
MYO7A myosin VIIA 276903 Mutations of the Myosin VIIa Gene Retina International
MYO7A myosin VIIA 276903 The UMD MYO7A mutations database A.-F. Roux and D. Baux
MYO7A myosin VIIA 276903 Retinal and hearing impairment genetic mutation database MYO7A david baux
MYO7A myosin VIIA 276903 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
MYO7A myosin VIIA 276903 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 601652 Myocilin allele-specific phenotype database Dr Alex Hewitt & A/Prof Jamie Craig, Department of Ophthalmology, Flinders University, Adelaide, Australia.
MYOT myotilin 604103 Leiden Muscular Dystrophy pages Johan den Dunnen

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