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- MAN2B1: mannosidase, alpha, class 2B, member 1
- MANBA: mannosidase, beta A, lysosomal
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MAT1A: methionine adenosyltransferase I, alpha
- MATN3: matrilin 3
- MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
- MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
- MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
- MECP2: methyl CpG binding protein 2 (Rett syndrome)
- MEFV: Mediterranean fever
- MEN1: multiple endocrine neoplasia I
- MFN2: mitofusin 2
- MID1: midline 1 (Opitz/BBB syndrome)
- MITF: microphthalmia-associated transcription factor
- MKKS: McKusick-Kaufman syndrome
- MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- MLYCD: malonyl-CoA decarboxylase
- MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
- MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
- MMP20: matrix metallopeptidase 20 (enamelysin)
- MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- MSX2: msh homeobox 2
- MT-ATP6: mitochondrially encoded ATP synthase 6
- MT-ND1: mitochondrially encoded NADH dehydrogenase 1
- MT-ND4: mitochondrially encoded NADH dehydrogenase 4
- MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L
- MT-ND5: mitochondrially encoded NADH dehydrogenase 5
- MT-ND6: mitochondrially encoded NADH dehydrogenase 6
- MT-RNR1: mitochondrially encoded 12S RNA
- MT-TH: mitochondrially encoded tRNA histidine
- MT-TL1: mitochondrially encoded tRNA leucine 1 (UUA/G)
- MT-TS1: mitochondrially encoded tRNA serine 1 (UCN)
- MT-TV: mitochondrially encoded tRNA valine
- MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
- MTMR2: myotubularin related protein 2
- MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
- MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
- MTTP: microsomal triglyceride transfer protein
- MUT: methylmalonyl Coenzyme A mutase
- MUTYH: mutY homolog (E. coli)
- MYO15A: myosin XVA
- MYO1A: myosin IA
- MYO6: myosin VI
- MYO7A: myosin VIIA
- MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
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