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Dystonia Complete Online Mendelian Inheritance in Man (OMIM)
OMIM graphical views of phenotype-gene relationships, Online Mendelian Inheritance in Man (OMIM®)
https://www2.unb.ca/~rmalenf1/BIOL3933/morbidmap.txt
[OMIM graphical views of phenotype-gene relationships, Online Mendelian Inheritance in Man (OMIM®) is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. OMIM is a continuation of Dr. Victor A. McKusick's Mendelian Inheritance in Man, which was published through 12 editions, the last in 1998. OMIM is based on the peer-reviewed biomedical literature, and criteria for inclusion of papers continue to evolve. In general, priority for inclusion is given to papers that provide significant insight into the gene-phenotype relationship, expand our understanding of human biology, or contribute to the characterization of a disorder. Information in each OMIM entry is cited, and the full reference is provided. OMIM is biocurated at the McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine.]
- 1. Dystonia 13, torsion (2) DYT13 607671 1p36.32-p36.13
- 2. Dystonia 16, 612067 (3) PRKRA, PACT, RAX, DYT16 603424 2q31.2
- 3. Dystonia 2, torsion, autosomal recessive, 224500 (3) HPCA, DYT2 142622 1p35.1
- 4. Dystonia 21 (2) DYT21 614588 2q14.3-q21.3
- 5. Dystonia 24, 615034 (3) ANO3, TMEM16C, C11orf25, DYT24 610110 11p14.3-p14.2
- 6. Dystonia 25, 615073 (3) GNAL, DYT25 139312 18p11.21
- 7. Dystonia 26, myoclonic, 616398 (3) KCTD17 616386 22q12.3
- 8. Dystonia 27, 616411 (3) COL6A3, DYT27, BTHLM1, UCMD1 120250 2q37.3
- 9. Dystonia 28, childhood-onset, 617284 (3) KMT2B, MLL4, KIAA0304, DYT28 606834 19q13.12
- 10. Dystonia 4, torsion, autosomal dominant, 128101 (3) TUBB4A, DYT4, HLD6 602662 19p13.3
- 11. Dystonia 6, torsion, 602629 (3) THAP1, DYT6 609520 8p11.21
- 12. Dystonia 9, 601042 (3) SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN 138140 1p34.2
- 13. Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) GCH1, DYT5, HPABH4B 600225 14q22.2
- 14. Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3) MECR, NRBF1, DYTOABG 608205 1p35.3
- 15. Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) SPR 182125 2p13.2
- 16. Dystonia, primary cervical (3) DRD5, DRD1B, DRD1L2 126453 4p16.1
- 17. Dystonia-1, torsion, 128100 (3) DYT1, TOR1A 605204 9q34.11
- 18. Dystonia-11, myoclonic, 159900 (3) SGCE, DYT11 604149 7q21.3
- 19. Dystonia-12, 128235 (3) ATP1A3, DYT12, RDP, AHC2, CAPOS 182350 19q13.2
- 20. Dystonia-15, myoclonic (2) DYT15 607488 18p11
- 21. Dystonia-17, primary torsion (2) DYT17 612406 20p11.2-q13.12
- 22. Dystonia-7, torsion (2) DYT7 602124 18p
- 23. Dystonia-Parkinsonism, X-linked, 314250 (3) TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 313650 Xq13.1
- 24. Dystonia 23, 614860 (3) CACNA1B, CACNL1A5, DYT23 601012 9q34.3
- 25. ?Dystonia, juvenile-onset, 607371 (3) ACTB, BRWS1 102630 7p22.1
- 26. Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3) SCP2 184755 1p32.3
- 27. Deafness, dystonia, and cerebral hypomyelination, 300475 (3) BCAP31, BAP31, DXS1357E, DDCH 300398 Xq28
- 28. Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp (2) EPRPDC 608105 16p12-p11.2
- 29. Hypermanganesemia with dystonia 1, 613280 (3) SLC30A10, ZNT10, HMNDYT1 611146 1q41
- 30. Hypermanganesemia with dystonia 2, 617013 (3) SLC39A14, ZIP14, KIAA0062, HMNDYT2 608736 8p21.3
- 31. Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3) PLEKHG2, CLG, LDAMD 611893 19q13.2
- 32. Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV 601530 5q35.3
- 33. Parkinsonism-dystonia, infantile, 613135 (3) SLC6A3, DAT1, PKDYS 126455 5p15.33
- 34. Dystonia-1, modifier of} (3) DYT1, TOR1A 605204 9q34.11