MSeqDR Expert Panel Gene Curation Work List
User comment on mitochondrial diseases and variants
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1. MT-ATP6 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 66(66) , HGMD: , ClinVar: 12 Mitochondrial Disease: View 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
516060 ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED
551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME | 2. MT-ATP8 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
516060 ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED
551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME | 3. MT-CO1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 82(82) , HGMD: , ClinVar: 10 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
550500 MYOGLOBINURIA, RECURRENT
580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED | 4. MT-CO2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 36(36) , HGMD: , ClinVar: 5 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 5. MT-CO3 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 54(54) , HGMD: , ClinVar: 7 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705 | 6. MT-CYB N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 90(90) , HGMD: , ClinVar: 66 Mitochondrial Disease: View 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
601665 Obesity, autosomal dominant, 601665 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
516020 CYTOCHROME b OF COMPLEX III; MTCYB | 7. MT-ND1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 87(87) , HGMD: , ClinVar: 23 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 | 8. MT-ND2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 49(49) , HGMD: , ClinVar: 6 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705 | 9. MT-ND3 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 24(24) , HGMD: , ClinVar: 7 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME | 10. MT-ND4 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 73(73) , HGMD: , ClinVar: 6 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 | 11. MT-ND4L N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 22(22) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705 | 12. MT-ND5 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 135(135) , HGMD: , ClinVar: 14 Mitochondrial Disease: View 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME | 13. MT-ND6 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 43(43) , HGMD: , ClinVar: 14 Mitochondrial Disease: View 553000 ONCOCYTOMA
500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME
535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 | 14. MT-RNR1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 108(108) , HGMD: , ClinVar: 46 Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED | 15. MT-RNR2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 104(104) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED | 16. MT-TA N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 6(6) , HGMD: , ClinVar: 4 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia | 17. MT-TC N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 10(10) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 | 18. MT-TE N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , HGMD: , ClinVar: 5 Mitochondrial Disease: View 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD
500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT | 19. MT-TF N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 18(18) , HGMD: , ClinVar: 7 Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME | 20. MT-TH N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 9(9) , HGMD: , ClinVar: 4 Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME | 21. MT-TI N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 22(22) , HGMD: , ClinVar: 8 Mitochondrial Disease: View 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI
500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL | 22. MT-TK N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 23(23) , HGMD: , ClinVar: 7 Mitochondrial Disease: View 556500 PARKINSON DISEASE, MITOCHONDRIAL
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD
603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) | 23. MT-TL1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 34(34) , HGMD: , ClinVar: 12 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
500007 CYCLIC VOMITING SYNDROME; CVS
530000 KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME
520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD | 24. MT-TL2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 14(14) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia | 25. MT-TM N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 8(8) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia | 26. MT-TN N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 7(7) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
252010 Mitochondrial complex I deficiency, 252010 (3) | 27. MT-TQ N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 16(16) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 | 28. MT-TS1 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 23(23) , HGMD: , ClinVar: 12 Mitochondrial Disease: View 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME | 29. MT-TS2 N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 11(11) , HGMD: , ClinVar: 2 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687
545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME | 30. MT-TV N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 12(12) , HGMD: , ClinVar: 3 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 31. MT-TW N Expert Curator: Marcella Attimonelli; Renkui Bai; Marni Falk; Marie Lott; Matthew Dulik Matthew Dulik; Lishuang Shen; XiaowuGai Variants: 16(16) , HGMD: , ClinVar: 8 Mitochondrial Disease: View 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 32. POLG N Expert Curator: Renkui Bai; Marni Falk; Lishuang Shen; XiaowuGai Variants: 210(209) , HGMD: 259, ClinVar: 273 Mitochondrial Disease: View 258450 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3)
603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
203700 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
157640 Progressive external ophthalmoplegia, autosomal dominant, 157640 (3)
607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) | 33. AARS2 N Expert Curator: Variants: 3(3) , HGMD: 14, ClinVar: 56 Mitochondrial Disease: View 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 | 34. ABCC8 N Expert Curator: Variants: 3(3) , HGMD: 580, ClinVar: 123 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 35. ACAD9 N Expert Curator: Variants: 8(8) , HGMD: 21, ClinVar: 51 Mitochondrial Disease: View 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF | 36. ACADM N Expert Curator: Variants: 13(12) , HGMD: 159, ClinVar: 60 Mitochondrial Disease: View 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | 37. ACADS N Expert Curator: Variants: 24(18) , HGMD: 61, ClinVar: 42 Mitochondrial Disease: View 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD | 38. ACADVL N Expert Curator: Variants: 50(39) , HGMD: 173, ClinVar: 104 Mitochondrial Disease: View 201460 MOVED TO 201475
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 39. ACAT1 N Expert Curator: Variants: 13(13) , HGMD: 65, ClinVar: 38 Mitochondrial Disease: View 203750 ALPHA-METHYLACETOACETIC ACIDURIA | 40. ACO2 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 16 Mitochondrial Disease: View 614559 Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial? | 41. ADCK3 N Expert Curator: Variants: 12(12) , HGMD: 29, ClinVar: 57 Mitochondrial Disease: View 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 | 42. ADRB2 N Expert Curator: Variants: 1(1) , HGMD: 8, ClinVar: 4 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 43. ADRB3 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 44. AFG3L2 N Expert Curator: Variants: 0(0) , HGMD: 21, ClinVar: 32 Mitochondrial Disease: View 610246 SPINOCEREBELLAR ATAXIA 28; SCA28 | 45. AGK N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 31 Mitochondrial Disease: View 212350 SENGERS SYNDROME | 46. AIFM1 N Expert Curator: Variants: 1(1) , HGMD: 18, ClinVar: 33 Mitochondrial Disease: View 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 | 47. AK2 N Expert Curator: Variants: 10(10) , HGMD: 14, ClinVar: 17 Mitochondrial Disease: View 267500 Reticular dysgenesis, 267500 (3) | 48. AKT2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 6 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 49. ALDH2 N Expert Curator: Variants: 2(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 610251 Alcohol sensitivity, acute, 610251 (3) | 50. APOPT1 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 4 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 51. ATP5A1 N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 3 Mitochondrial Disease: View 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3) | 52. ATP5E N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) | 53. ATPAF2 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 14 Mitochondrial Disease: View 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) | 54. AUH N Expert Curator: Variants: 4(4) , HGMD: 11, ClinVar: 28 Mitochondrial Disease: View 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 | 55. BCS1L N Expert Curator: Variants: 17(17) , HGMD: 29, ClinVar: 36 Mitochondrial Disease: View 603358 GRACILE syndrome, 603358 (3)
262000 Bjornstad syndrome, 262000 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)
124000 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3) | 56. BOLA3 N Expert Curator: Variants: 0(0) , HGMD: 3, ClinVar: 5 Mitochondrial Disease: View 614299 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) | 57. C10orf2 N Expert Curator: Variants: 24(24) , HGMD: 61, ClinVar: 51 Mitochondrial Disease: View 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3
607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) | 58. C12orf65 N Expert Curator: Variants: 2(2) , HGMD: 9, ClinVar: 14 Mitochondrial Disease: View 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7 | 59. C19orf12 N Expert Curator: Variants: 12(10) , HGMD: 34, ClinVar: 14 Mitochondrial Disease: View 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 | 60. CAPN10 N Expert Curator: Variants: 1(1) , HGMD: 7, ClinVar: 4 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 61. CARTPT N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 62. CDH23 N Expert Curator: Variants: 25(25) , HGMD: 237, ClinVar: 344 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 63. CDKAL1 N Expert Curator: Variants: 3(3) , HGMD: 1, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 64. CHKB N Expert Curator: Variants: 2(2) , HGMD: 16, ClinVar: 0 Mitochondrial Disease: View 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC | 65. CISD2 N Expert Curator: Variants: 0(0) , HGMD: 3, ClinVar: 0 Mitochondrial Disease: View 604928 WOLFRAM SYNDROME 2; WFS2 | 66. CLRN1 N Expert Curator: Variants: 5(5) , HGMD: 28, ClinVar: 22 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 67. COA5 N Expert Curator: Variants: 0(0) , HGMD: 1, ClinVar: 1 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 68. COQ2 N Expert Curator: Variants: 4(4) , HGMD: 25, ClinVar: 36 Mitochondrial Disease: View 607426 Coenzyme Q10 deficiency, primary, 1, 607426 (3) | 69. COQ6 N Expert Curator: Variants: 4(4) , HGMD: 9, ClinVar: 13 Mitochondrial Disease: View 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 | 70. COQ9 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 19 Mitochondrial Disease: View 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 | 71. COX10 N Expert Curator: Variants: 5(5) , HGMD: 7, ClinVar: 22 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 72. COX14 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 3 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 73. COX15 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 27 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 74. COX20 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 2 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 75. COX6B1 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 6 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 76. CPS1 N Expert Curator: Variants: 12(11) , HGMD: 247, ClinVar: 32 Mitochondrial Disease: View 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY
615371 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) | 77. CPT1A N Expert Curator: Variants: 34(33) , HGMD: 41, ClinVar: 52 Mitochondrial Disease: View 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | 78. CPT2 N Expert Curator: Variants: 14(14) , HGMD: 99, ClinVar: 55 Mitochondrial Disease: View 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE;CPT2 | 79. CYC1 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 2 Mitochondrial Disease: View 615453 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3) | 80. DARS2 N Expert Curator: Variants: 19(19) , HGMD: 54, ClinVar: 22 Mitochondrial Disease: View 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND | 81. DFNB31 N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 84 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 82. DGUOK N Expert Curator: Variants: 5(5) , HGMD: 57, ClinVar: 24 Mitochondrial Disease: View 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) | 83. DLAT N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 20 Mitochondrial Disease: View 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD | 84. DNA2 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 5 Mitochondrial Disease: View 615156 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, PEOA6 | 85. DNAJC19 N Expert Curator: Variants: 4(2) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 | 86. DNM1L N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 7 Mitochondrial Disease: View 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) | 87. ENPP1 N Expert Curator: Variants: 2(2) , HGMD: 63, ClinVar: 30 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3)
125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 88. ETFA N Expert Curator: Variants: 3(3) , HGMD: 28, ClinVar: 17 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | 89. ETFB N Expert Curator: Variants: 2(2) , HGMD: 13, ClinVar: 24 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | 90. ETFDH N Expert Curator: Variants: 0(0) , HGMD: 146, ClinVar: 50 Mitochondrial Disease: View 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | 91. FARS2 N Expert Curator: Variants: 3(3) , HGMD: 8, ClinVar: 24 Mitochondrial Disease: View 614946 Combined oxidative phosphorylation deficiency 14, 614946 (3) | 92. FASTKD2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 23 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 93. FBXL4 N Expert Curator: Variants: 5(5) , HGMD: 11, ClinVar: 6 Mitochondrial Disease: View 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);MTDPS13 | 94. FOXRED1 N Expert Curator: Variants: 3(3) , HGMD: 6, ClinVar: 32 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 95. FXN N Expert Curator: Variants: 0(0) , HGMD: 62, ClinVar: 13 Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED | 96. GAMT N Expert Curator: Variants: 13(9) , HGMD: 53, ClinVar: 62 Mitochondrial Disease: View 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED | 97. GATM N Expert Curator: Variants: 6(5) , HGMD: 7, ClinVar: 34 Mitochondrial Disease: View 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 | 98. GCGR N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 99. GCK N Expert Curator: Variants: 0(0) , HGMD: 759, ClinVar: 146 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 100. GFER N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 13 Mitochondrial Disease: View 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) | 101. GFM1 N Expert Curator: Variants: 4(4) , HGMD: 13, ClinVar: 38 Mitochondrial Disease: View 609060 Combined oxidative phosphorylation deficiency 1, 609060 (3) | 102. GHRL N Expert Curator: Variants: 2(2) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 103. GJB2 N Expert Curator: Variants: 0(0) , HGMD: 365, ClinVar: 145 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | 104. GJB3 N Expert Curator: Variants: 0(0) , HGMD: 37, ClinVar: 31 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | 105. GJB6 N Expert Curator: Variants: 0(0) , HGMD: 24, ClinVar: 21 Mitochondrial Disease: View 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A | 106. GPD2 N Expert Curator: Variants: 1(1) , HGMD: 5, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 107. HADH N Expert Curator: Variants: 2(2) , HGMD: 22, ClinVar: 14 Mitochondrial Disease: View 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH | 108. HADHA N Expert Curator: Variants: 7(7) , HGMD: 61, ClinVar: 21 Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | 109. HADHB N Expert Curator: Variants: 6(6) , HGMD: 53, ClinVar: 21 Mitochondrial Disease: View 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY | 110. HARS2 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 17 Mitochondrial Disease: View 614926 PERRAULT SYNDROME 2; PRLTS2 | 111. HMGA1 N Expert Curator: Variants: 0(0) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 112. HMGCS2 N Expert Curator: Variants: 6(6) , HGMD: 26, ClinVar: 11 Mitochondrial Disease: View 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | 113. HNF1B N Expert Curator: Variants: 2(2) , HGMD: 172, ClinVar: 39 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 114. HNF4A N Expert Curator: Variants: 1(1) , HGMD: 142, ClinVar: 39 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 115. HSPD1 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 20 Mitochondrial Disease: View 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 | 116. IBA57 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 2 Mitochondrial Disease: View 615330 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3) | 117. IDH2 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 14 Mitochondrial Disease: View 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3) | 118. IGF2BP2 N Expert Curator: Variants: 1(1) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 119. IL6 N Expert Curator: Variants: 0(0) , HGMD: 9, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 120. INSR N Expert Curator: Variants: 3(3) , HGMD: 163, ClinVar: 55 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 121. IRS1 N Expert Curator: Variants: 2(2) , HGMD: 23, ClinVar: 3 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 122. ISCU N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML | 123. KANK1 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 14 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 124. KCNJ11 N Expert Curator: Variants: 1(1) , HGMD: 159, ClinVar: 76 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 125. LARS2 N Expert Curator: Variants: 4(4) , HGMD: 4, ClinVar: 5 Mitochondrial Disease: View 615300 Perrault syndrome 4, 615300 (3) | 126. LEPR N Expert Curator: Variants: 4(4) , HGMD: 29, ClinVar: 8 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 127. LIAS N Expert Curator: Variants: 1(1) , HGMD: 3, ClinVar: 22 Mitochondrial Disease: View 614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD | 128. LIPC N Expert Curator: Variants: 2(2) , HGMD: 19, ClinVar: 6 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 129. LRPPRC N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 72 Mitochondrial Disease: View 220111 Leigh syndrome, French-Canadian type, 220111 (3) | 130. MAPK8IP1 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 131. MC4R N Expert Curator: Variants: 22(22) , HGMD: 156, ClinVar: 33 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 132. ME2 N Expert Curator: Variants: 0(0) , HGMD: , ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 133. MFN2 N Expert Curator: Variants: 5(5) , HGMD: 170, ClinVar: 77 Mitochondrial Disease: View 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
601152 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6
151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL | 134. MGME1 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 2 Mitochondrial Disease: View 615084 Mitochondrial DNA depletion syndrome 11, 615084 (3) | 135. MPC1 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 5 Mitochondrial Disease: View 614741 Mitochondrial pyruvate carrier deficiency, 614741 (3) | 136. MPV17 N Expert Curator: Variants: 19(19) , HGMD: 37, ClinVar: 29 Mitochondrial Disease: View 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) | 137. MRAP2 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 138. MRPL3 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 614582 Combined oxidative phosphorylation deficiency 9, 614582 (3) | 139. MRPL44 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 11 Mitochondrial Disease: View 615395 Combined oxidative phosphorylation deficiency 16, 615395 (3) | 140. MRPS16 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 610498 Combined oxidative phosphorylation deficiency 2, 610498 (3) | 141. MRPS22 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 15 Mitochondrial Disease: View 611719 Combined oxidative phosphorylation deficiency 5, 611719 (3) | 142. MTFMT N Expert Curator: Variants: 8(8) , HGMD: 14, ClinVar: 17 Mitochondrial Disease: View 614947 Combined oxidative phosphorylation deficiency 15, 614947 (3) | 143. MTO1 N Expert Curator: Variants: 7(7) , HGMD: 8, ClinVar: 10 Mitochondrial Disease: View 614702 Combined oxidative phosphorylation deficiency 10, 614702 (3) | 144. MTPAP N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 5 Mitochondrial Disease: View 613672 Ataxia, spastic, 4, 613672 (3) | 145. MYO7A N Expert Curator: Variants: 90(90) , HGMD: 339, ClinVar: 337 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 146. NAT2 N Expert Curator: Variants: 0(0) , HGMD: 16, ClinVar: 5 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 147. NDUFA1 N Expert Curator: Variants: 3(3) , HGMD: 4, ClinVar: 6 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 148. NDUFA10 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 22 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 149. NDUFA11 N Expert Curator: Variants: 0(0) , HGMD: 1, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 150. NDUFA12 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 3 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 151. NDUFA2 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 5 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 152. NDUFA9 N Expert Curator: Variants: 2(2) , HGMD: 1, ClinVar: 19 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 153. NDUFAF1 N Expert Curator: Variants: 3(3) , HGMD: 7, ClinVar: 24 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 154. NDUFAF2 N Expert Curator: Variants: 1(1) , HGMD: 8, ClinVar: 13 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 155. NDUFAF3 N Expert Curator: Variants: 4(4) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 156. NDUFAF4 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 157. NDUFAF5 N Expert Curator: Variants: 2(2) , HGMD: 6, ClinVar: 18 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 158. NDUFAF6 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 23 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 159. NDUFB3 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 3 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 160. NDUFB9 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 161. NDUFS1 N Expert Curator: Variants: 9(9) , HGMD: 19, ClinVar: 40 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 162. NDUFS2 N Expert Curator: Variants: 3(3) , HGMD: 18, ClinVar: 28 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 163. NDUFS3 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 164. NDUFS4 N Expert Curator: Variants: 5(4) , HGMD: 14, ClinVar: 20 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 165. NDUFS6 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 166. NDUFS7 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 19 Mitochondrial Disease: View 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 167. NDUFS8 N Expert Curator: Variants: 7(7) , HGMD: 12, ClinVar: 15 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 168. NDUFV1 N Expert Curator: Variants: 3(3) , HGMD: 27, ClinVar: 34 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 169. NDUFV2 N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 5 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3)
556500 PARKINSON DISEASE, MITOCHONDRIAL | 170. NEUROD1 N Expert Curator: Variants: 1(1) , HGMD: 12, ClinVar: 5 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 171. NF2 N Expert Curator: Variants: 17(17) , HGMD: 406, ClinVar: 30 Mitochondrial Disease: View 101000 Neurofibromatosis, type 2, 101000 (3) | 172. NFU1 N Expert Curator: Variants: 1(1) , HGMD: 11, ClinVar: 10 Mitochondrial Disease: View 605711 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) | 173. NUBPL N Expert Curator: Variants: 4(4) , HGMD: 8, ClinVar: 24 Mitochondrial Disease: View 252010 Mitochondrial complex I deficiency, 252010 (3) | 174. NUP62 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI | 175. OPA1 N Expert Curator: Variants: 24(20) , HGMD: 339, ClinVar: 107 Mitochondrial Disease: View 165500 OPTIC ATROPHY 1; OPA1 | 176. OPA3 N Expert Curator: Variants: 3(3) , HGMD: 11, ClinVar: 14 Mitochondrial Disease: View 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 | 177. PAX4 N Expert Curator: Variants: 1(1) , HGMD: 10, ClinVar: 10 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 178. PC N Expert Curator: Variants: 32(19) , HGMD: 32, ClinVar: 62 Mitochondrial Disease: View 266150 Pyruvate carboxylase deficiency, 266150 (3) | 179. PCDH15 N Expert Curator: Variants: 4(4) , HGMD: 81, ClinVar: 182 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 180. PCK2 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 0 Mitochondrial Disease: View 261650 PEPCK deficiency, mitochondrial, 261650 (1) | 181. PDHA1 N Expert Curator: Variants: 14(14) , HGMD: 159, ClinVar: 55 Mitochondrial Disease: View 308930 Leigh syndrome, X-linked, 308930 (3)
312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD | 182. PDHB N Expert Curator: Variants: 2(2) , HGMD: 12, ClinVar: 13 Mitochondrial Disease: View 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD | 183. PDP1 N Expert Curator: Variants: 2(2) , HGMD: 2, ClinVar: 6 Mitochondrial Disease: View 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD | 184. PDSS1 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 20 Mitochondrial Disease: View 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 | 185. PDSS2 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 14 Mitochondrial Disease: View 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3 | 186. PDX1 N Expert Curator: Variants: 0(0) , HGMD: 25, ClinVar: 14 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 187. POLG2 N Expert Curator: Variants: 7(3) , HGMD: 11, ClinVar: 22 Mitochondrial Disease: View 610131 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) | 188. PUS1 N Expert Curator: Variants: 4(2) , HGMD: 5, ClinVar: 26 Mitochondrial Disease: View 600462 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) | 189. PYY N Expert Curator: Variants: 1(1) , HGMD: 8, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 190. RARS2 N Expert Curator: Variants: 3(3) , HGMD: 21, ClinVar: 55 Mitochondrial Disease: View 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 | 191. RETN N Expert Curator: Variants: 0(0) , HGMD: 4, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 192. RMND1 N Expert Curator: Variants: 3(3) , HGMD: 6, ClinVar: 13 Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 | 193. RMRP N Expert Curator: Variants: 0(0) , HGMD: 117, ClinVar: 28 Mitochondrial Disease: View 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 | 194. RRM2B N Expert Curator: Variants: 21(21) , HGMD: 39, ClinVar: 58 Mitochondrial Disease: View 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5 | 195. SCO1 N Expert Curator: Variants: 2(2) , HGMD: 5, ClinVar: 16 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 196. SCO2 N Expert Curator: Variants: 14(7) , HGMD: 29, ClinVar: 2 Mitochondrial Disease: View 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 | 197. SDHA N Expert Curator: Variants: 8(7) , HGMD: 30, ClinVar: 39 Mitochondrial Disease: View 252011 Mitochondrial complex II deficiency, 252011 (3)
613642 Cardiomyopathy, dilated, 1GG, 613642 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 198. SDHAF1 N Expert Curator: Variants: 2(2) , HGMD: 4, ClinVar: 7 Mitochondrial Disease: View 252011 Mitochondrial complex II deficiency, 252011 (3) | 199. SERAC1 N Expert Curator: Variants: 2(2) , HGMD: 18, ClinVar: 30 Mitochondrial Disease: View 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL | 200. SLC22A5 N Expert Curator: Variants: 127(122) , HGMD: 111, ClinVar: 136 Mitochondrial Disease: View 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP | 201. SLC25A1 N Expert Curator: Variants: 6(6) , HGMD: 15, ClinVar: 12 Mitochondrial Disease: View 615182 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) | 202. SLC25A12 N Expert Curator: Variants: 2(2) , HGMD: 3, ClinVar: 2 Mitochondrial Disease: View 612949 Hypomyelination, global cerebral, 612949 (3) | 203. SLC25A13 N Expert Curator: Variants: 23(21) , HGMD: 94, ClinVar: 22 Mitochondrial Disease: View 605814 Citrullinemia, type II, neonatal-onset, 605814 (3)
603471 Citrullinemia, adult-onset type II, 603471 (3) | 204. SLC25A15 N Expert Curator: Variants: 21(20) , HGMD: 34, ClinVar: 22 Mitochondrial Disease: View 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) | 205. SLC25A19 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 14 Mitochondrial Disease: View 607196 Microcephaly, Amish type, 607196 (3) | 206. SLC25A20 N Expert Curator: Variants: 8(8) , HGMD: 40, ClinVar: 12 Mitochondrial Disease: View 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD | 207. SLC25A22 N Expert Curator: Variants: 3(3) , HGMD: 3, ClinVar: 71 Mitochondrial Disease: View 609304 Epileptic encephalopathy, early infantile, 3, 609304 (3) | 208. SLC25A3 N Expert Curator: Variants: 1(1) , HGMD: 5, ClinVar: 11 Mitochondrial Disease: View 610773 Mitochondrial phosphate carrier deficiency, 610773 (3) | 209. SLC25A4 N Expert Curator: Variants: 6(6) , HGMD: 11, ClinVar: 15 Mitochondrial Disease: View 609283 Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)
615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3) | 210. SLC2A2 N Expert Curator: Variants: 1(1) , HGMD: 76, ClinVar: 20 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 211. SLC2A4 N Expert Curator: Variants: 1(1) , HGMD: 2, ClinVar: 1 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 212. SLC30A8 N Expert Curator: Variants: 3(3) , HGMD: 4, ClinVar: 3 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 213. SLC6A8 N Expert Curator: Variants: 14(13) , HGMD: 122, ClinVar: 35 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 214. SOD2 N Expert Curator: Variants: 0(0) , HGMD: 5, ClinVar: 2 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 215. SUCLA2 N Expert Curator: Variants: 4(4) , HGMD: 15, ClinVar: 36 Mitochondrial Disease: View 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) | 216. SUCLG1 N Expert Curator: Variants: 3(3) , HGMD: 19, ClinVar: 25 Mitochondrial Disease: View 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) | 217. SURF1 N Expert Curator: Variants: 3(3) , HGMD: 95, ClinVar: 43 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3)
256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3) | 218. TACO1 N Expert Curator: Variants: 0(0) , HGMD: 2, ClinVar: 9 Mitochondrial Disease: View 220110 Mitochondrial complex IV deficiency, 220110 (3) | 219. TAZ N Expert Curator: Variants: 345(206) , HGMD: 127, ClinVar: 50 Mitochondrial Disease: View 302060 BARTH SYNDROME; BTHS | 220. TCF7L2 N Expert Curator: Variants: 5(4) , HGMD: 7, ClinVar: 4 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 221. TIMM8A N Expert Curator: Variants: 6(6) , HGMD: 21, ClinVar: 16 Mitochondrial Disease: View 304700 Mohr-Tranebjaerg syndrome, 304700 (3) | 222. TK2 N Expert Curator: Variants: 40(35) , HGMD: 42, ClinVar: 50 Mitochondrial Disease: View 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) | 223. TMEM70 N Expert Curator: Variants: 3(3) , HGMD: 18, ClinVar: 23 Mitochondrial Disease: View 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) | 224. TRMU N Expert Curator: Variants: 5(5) , HGMD: 16, ClinVar: 42 Mitochondrial Disease: View 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED
613070 Liver failure, transient infantile, 613070 (3) | 225. TRNT1 N Expert Curator: Variants: 0(0) , HGMD: 13, ClinVar: 6 Mitochondrial Disease: View 613070 Liver failure, transient infantile, 613070 (3) | 226. TSFM N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 10 Mitochondrial Disease: View 610505 Combined oxidative phosphorylation deficiency 3, 610505 (3) | 227. TTC19 N Expert Curator: Variants: 1(1) , HGMD: 9, ClinVar: 25 Mitochondrial Disease: View 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) | 228. TUFM N Expert Curator: Variants: 1(1) , HGMD: 4, ClinVar: 15 Mitochondrial Disease: View 610678 Combined oxidative phosphorylation deficiency 4, 610678 (3) | 229. TYMP N Expert Curator: Variants: 9(9) , HGMD: 85, ClinVar: 35 Mitochondrial Disease: View 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) | 230. UCP1 N Expert Curator: Variants: 0(0) , HGMD: 7, ClinVar: 1 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 231. UCP3 N Expert Curator: Variants: 0(0) , HGMD: 9, ClinVar: 4 Mitochondrial Disease: View 601665 Obesity, autosomal dominant, 601665 (3) | 232. UQCRB N Expert Curator: Variants: 0(0) , HGMD: 1, ClinVar: 7 Mitochondrial Disease: View 124000 Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
615158 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3) | 233. UQCRC2 N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 0 Mitochondrial Disease: View 615160 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) | 234. UQCRQ N Expert Curator: Variants: 1(1) , HGMD: 1, ClinVar: 7 Mitochondrial Disease: View 615159 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) | 235. USH1C N Expert Curator: Variants: 4(4) , HGMD: 38, ClinVar: 108 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 236. USH1G N Expert Curator: Variants: 1(1) , HGMD: 19, ClinVar: 27 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 237. USH2A N Expert Curator: Variants: 64(64) , HGMD: 740, ClinVar: 489 Mitochondrial Disease: View 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | 238. WFS1 N Expert Curator: Variants: 2(2) , HGMD: 313, ClinVar: 233 Mitochondrial Disease: View 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3) | 239. YARS2 N Expert Curator: Variants: 6(6) , HGMD: 8, ClinVar: 23 Mitochondrial Disease: View 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 | |