Leigh syndrome

Disease Term Disease ID Gene Symbol References
Leigh Disease C0023264 BCS1L 9878253, 10508156, 25613900, 25914718, 19162478, 25895478, 24172246, 28427446, 19508421, 11528392, 27604308, 21274865, 9777342, 17314340, 19389488
COX10 10545952, 10767350, 24100867, 12928484, 2167310, 14607829, 17715058, 25613900, 15455402
COX15 15863660, 25613900, 11788607, 15235026, 22310368, 26959537, 21723506, 26039449, 12474143, 27604308, 21412973
DLD 27604308
ECHS1 25125611, 26099313
ATP6 8190310, 17352390, 9556461, 8554662, 9631394, 24002810, 16217706, 7668837, 23266623, 22789932, 1550128, 23206802, 1436530, 11382202, 11731285, 11245730, 2137962, 24118886, 18461509, 8602753, 9270604, 8395787, 11119722, 9501263
COX3 11063732, 20525945
CYTB 11047755
ND1 18504678, 21364701, 16849371, 15972314, 12205655, 15466014
ND2
ND3 15576045, 11456298, 17152068, 20202874, 17535832, 25118196, 14705112, 14764913, 14684687, 19458970, 16023078
ND4 15576045, 16120329
ND5 14520659, 14730434, 10589546, 9299505, 11198278, 12624137, 14684687, 11938446, 15521990, 17400793, 17317336, 15576045, 12796552
ND6 8016139, 14684687, 10894222, 15576045, 8622678, 12205655, 14595656, 11781695, 16337195
TRNK 1678125, 11108511, 8170567
TRNL1 10356136
TRNV 11799391, 9270602
TRNW 19349200, 12776230, 9266739
NDUFA1 29506883, 8938439, 28429146, 25356405, 15293270, 14722084, 10200266, 25356970, 28506826, 17262856
NDUFA2 17209039, 22822087, 27604308, 18513682, 9878551, 21556144, 18826940, 27626371, 28857146, 27159321
NDUFA9 22114105, 28671271, 25613900, 27604308, 23223238, 27509854
NDUFA10 21150889, 28247337, 27626371, 22200994, 26741492, 27509854, 27604308
NDUFS1 20382551, 15186778, 25615419, 1935949, 9878551, 22200994, 21203893, 21458341, 11349233, 27626380, 24952175, 1582426
NDUFS2 25655951, 23266820
NDUFS3 28683319, 30140060, 17267560, 14729820, 18485875, 9878551, 23519235, 22653752, 18826940, 19167255, 22200994
NDUFV1 30972103, 21696386, 23334465, 11349233, 27509854, 27344648, 30090137, 19672299, 23266820, 29976978
NDUFS4 11181577, 27671926, 24020637, 27604308, 19364667, 22653057, 12616398, 14765537, 29590638, 22326555, 20818383, 14749350, 18396137, 25613900, 19107570, 27079373, 27509854
NDUFS8 20818383, 27604308, 21924235, 9837812, 29285794, 15159508, 19672299, 27509854, 23430795, 22200994
NDUFV2 26008862, 27509854
PDHA1 8664900, 8498846, 28918066, 9187674, 21914562, 20002461, 23840713, 19924563
POLG 18828154
SDHA 10746566, 27683074, 22972948, 7550341, 19465911, 24781757, 16361598, 27604308, 9730279, 16798039, 1511876
SURF1 27756633, 9837813, 21611066, 16326995, 10746561, 25629267, 25164807, 12515039, 22488715, 24027061, 29481804, 26341968, 14564068, 22410471, 23829769, 14557577, 9843204, 29933018, 10443880, 21937992, 10647889, 10556302, 22310368, 16542579, 26257172, 27604308, 10636738, 18583168, 10558868, 29601977, 16765830, 24462369, 18804471, 27896082
SUCLG1 19526370, 25613900, 17668387, 20197121, 27484306, 29217198, 20693550, 9128182, 20453710
SUCLA2 15877282, 24319143, 17287286, 27913098, 23385875, 23010432, 26475597, 26952923, 23759946, 28769029, 25582465, 17301081, 25613900
SCO2 20159436, 19837698, 10545952, 18924171, 11673586, 15229189, 26741492, 16083427
LRPPRC 26510951, 27977873, 21266382, 18853439, 25835550, 12529507, 25428350, 22045337
FARS2 22833457, 27549011, 26553276, 22499341, 27095821, 27977873, 29126765
ETHE1 26917598, 25878756, 20528888, 25613900, 19136963, 16376514, 27830356, 18593870, 28753212, 20978941
UQCRQ 18439546, 25613900
CUTC 15863660, 21412973, 26959537, 22310368
TACO1 19503089, 27319982, 25044680
TTC19 29961508, 28673544, 25887401, 25613900, 24397319, 21278747, 25772319, 25452764
PTCD3 30607703, 19427859, 25613900
FOXRED1 20818383, 26022995, 31065540, 27215383, 25678554, 30392038
IARS2 25130867, 30041933, 25613900, 29980628
NDUFA12 21617257, 27509854, 24717771
PDSS2 18437205
MRPS34 2877793
NARS2 25807530, 29980628
SLC19A3 23589815, 27191787, 23482991, 23423671, 24166474, 19879271, 24878502, 26975589, 23469184, 27896110
GFM2 26016410, 19716793, 29075935, 22700954
GFM1 23430926, 18853439, 27977873, 21364917, 25852744, 17160893
NDUFAF2 16200211, 20818383, 27604308, 20571988
MTFMT 24461907, 21907147
NDUFAF6 26741492, 18614015, 27604308
EME2
NDUFS7 30429455, 25655951, 27509854, 22644603, 17604671, 30972103, 15269216, 10360771, 27604308
PET100 25293719, 24462369, 8702496, 25613900
PET117 27998984, 25613900, 28386624
Leigh syndrome , French Canadian type C1857355 SURF1 16326995
LRPPRC 12529507, 26510951, 27604308, 21266382, 24399447, 17050673, 29152527
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY C1838951 BCS1L 10508156, 28427446, 19162478, 21274865, 25613900, 11528392
COX10 24100867, 17715058, 12928484, 15455402, 2167310, 14607829, 25613900
COX15 21723506, 25613900, 11788607, 15235026, 26039449, 12474143
ND2
ND5
ND6
NDUFA1 28429146, 29506883, 15293270, 8938439, 14722084, 17262856, 25356970, 25356405, 10200266, 28506826
NDUFA2 22822087, 28857146, 18826940, 27626371, 9878551, 21556144, 17209039, 18513682, 27159321
NDUFA9 22114105, 27509854, 28671271, 23223238, 25613900
NDUFA10 27509854, 22200994, 27626371, 21150889, 28247337
NDUFS1 22200994, 1935949, 24952175, 27626380, 9878551, 11349233, 1582426, 21203893, 20382551, 21458341, 25615419, 15186778
NDUFS3 28683319, 9878551, 30140060, 17267560, 14729820, 18826940, 23519235, 18485875, 22653752, 22200994
NDUFV1 30972103, 11349233, 29976978, 23334465, 27509854, 30090137, 21696386, 27344648, 19672299, 23266820
NDUFS4 27671926, 22326555, 27509854, 12616398, 24020637, 14749350, 22653057, 29590638, 27079373, 18396137, 14765537, 25613900
NDUFS8 9837812, 15159508, 27509854, 25655951, 19672299, 21924235, 29285794, 20818383, 23430795, 22200994
NDUFV2 27509854, 26008862
PDHA1 21914562, 19924563, 20002461, 28918066, 8664900, 23840713, 8498846, 9187674
SDHA 9730279, 19465911, 1511876, 16798039, 10746566, 24781757, 22972948, 7550341
SURF1 10556302, 9837813, 29601977, 29933018, 27756633, 22488715, 10443880, 9843204, 25164807
SUCLG1 20453710, 9128182, 19526370, 27484306, 25613900, 20693550, 17668387, 29217198, 20197121
SUCLA2 17287286, 27913098, 26952923, 15877282, 23759946, 28769029, 23010432, 24319143, 26475597, 23385875, 25582465, 25613900, 17301081
SCO2 18924171, 15229189, 16083427, 10545952, 19837698, 20159436, 11673586
LRPPRC 25835550, 26510951, 25428350, 22045337, 18853439, 12529507, 21266382, 27977873
FARS2 27977873, 26553276, 29126765, 22499341, 27095821, 27549011, 22833457
ETHE1 26917598, 20528888, 18593870, 20978941, 25878756, 19136963, 16376514, 27830356, 25613900, 28753212
UQCRQ 18439546, 25613900
TACO1 19503089, 27319982, 25044680
TTC19 25772319, 29961508, 24397319, 21278747, 25613900, 28673544, 25452764, 25887401
PTCD3 25613900, 30607703, 19427859
FOXRED1 31065540, 27215383, 30392038, 20818383, 25678554, 26022995
IARS2 30041933, 25130867, 25613900, 29980628
NDUFA12 27509854, 21617257, 24717771
NARS2 29980628, 25807530
SLC19A3 24166474, 27896110, 23469184, 24878502, 23589815, 19879271, 23482991, 26975589, 27191787, 23423671
GFM2 26016410, 19716793, 22700954, 29075935
GFM1 18853439, 21364917, 17160893, 23430926, 27977873, 25852744
NDUFAF6 26741492
NDUFS7 22644603, 10360771, 30972103, 27509854, 30429455, 17604671, 15269216
PET100 25293719, 8702496, 24462369, 25613900
PET117 27998984, 25613900, 28386624
Leigh Syndrome Due To Mitochondrial Complex II Deficiency C1850597 BCS1L 10508156, 28427446, 11528392, 19162478, 21274865, 25613900
COX10 14607829, 25613900, 17715058, 15455402, 12928484, 2167310, 24100867
COX15 21723506, 12474143, 15235026, 26039449, 25613900, 11788607
NDUFA1 29506883, 17262856, 25356405, 14722084, 15293270, 8938439, 10200266, 28506826, 28429146, 25356970
NDUFA2 18826940, 22822087, 17209039, 27159321, 28857146, 9878551, 18513682, 27626371, 21556144
NDUFA9 22114105, 25613900, 27509854, 23223238, 28671271
NDUFA10 27509854, 21150889, 28247337, 27626371, 22200994
NDUFS1 24952175, 9878551, 20382551, 1582426, 21458341, 21203893, 25615419, 22200994, 27626380, 1935949, 11349233, 15186778
NDUFS3 14729820, 22200994, 9878551, 23519235, 18485875, 28683319, 18826940, 22653752, 30140060, 17267560
NDUFV1 27344648, 30972103, 29976978, 23334465, 30090137, 23266820, 19672299, 21696386, 27509854, 11349233
NDUFS4 18396137, 27079373, 27509854, 29590638, 24020637, 14749350, 14765537, 25613900, 22653057, 22326555, 12616398, 27671926
NDUFS8 23430795, 29285794, 27509854, 9837812, 15159508, 20818383, 19672299, 21924235, 22200994
NDUFV2 26008862, 27509854
PDHA1 9187674, 21914562, 19924563, 8498846, 20002461, 28918066, 23840713, 8664900
SDHA 9730279, 1511876, 19465911, 24781757, 22972948, 16798039, 10746566, 7550341
SURF1 10556302, 9843204, 29601977, 22488715, 9837813, 29933018, 27756633, 10443880, 25164807
SUCLG1 19526370, 20693550, 27484306, 25613900, 29217198, 9128182, 17668387, 20453710, 20197121
SUCLA2 28769029, 23385875, 27913098, 23010432, 26952923, 17287286, 25613900, 17301081, 24319143, 23759946, 15877282, 26475597, 25582465
SCO2 15229189, 11673586, 10545952, 19837698, 16083427, 20159436, 18924171
LRPPRC 22045337, 27977873, 12529507, 26510951, 21266382, 18853439, 25428350, 25835550
FARS2 27549011, 27977873, 27095821, 26553276, 22499341, 29126765, 22833457
ETHE1 18593870, 19136963, 20978941, 26917598, 27830356, 20528888, 16376514, 25878756, 25613900, 28753212
UQCRQ 25613900, 18439546
TACO1 27319982, 19503089, 25044680
TTC19 28673544, 25887401, 29961508, 25772319, 24397319, 25452764, 21278747, 25613900
PTCD3 19427859, 30607703, 25613900
FOXRED1 31065540, 20818383, 25678554, 26022995, 30392038, 27215383
IARS2 30041933, 29980628, 25130867, 25613900
NDUFA12 21617257, 24717771, 27509854
NARS2 25807530, 29980628
SLC19A3 24878502, 24166474, 27191787, 23423671, 23469184, 19879271, 27896110, 23482991, 23589815, 26975589
GFM2 22700954, 26016410, 19716793, 29075935
GFM1 21364917, 27977873, 23430926, 25852744, 18853439, 17160893
NDUFS7 30429455, 22644603, 27509854, 17604671, 10360771, 15269216, 30972103
PET100 25613900, 25293719, 24462369, 8702496
PET117 27998984, 25613900, 28386624
Leigh Syndrome due to Mitochondrial Complex III Deficiency C1850598 BCS1L 28427446, 21274865, 25613900, 11528392, 19162478, 10508156
COX10 15455402, 2167310, 14607829, 17715058, 25613900, 24100867, 12928484
COX15 25613900, 21723506, 15235026, 26039449, 11788607, 12474143
NDUFA1 28506826, 28429146, 25356405, 14722084, 15293270, 10200266, 17262856, 8938439, 29506883, 25356970
NDUFA2 18826940, 17209039, 18513682, 28857146, 27626371, 22822087, 21556144, 9878551, 27159321
NDUFA9 25613900, 22114105, 27509854, 23223238, 28671271
NDUFA10 27509854, 21150889, 22200994, 27626371, 28247337
NDUFS1 11349233, 27626380, 21203893, 21458341, 24952175, 25615419, 9878551, 1582426, 1935949, 22200994, 15186778, 20382551
NDUFS3 17267560, 22653752, 9878551, 30140060, 28683319, 23519235, 14729820, 22200994, 18485875, 18826940
NDUFV1 30972103, 11349233, 30090137, 27344648, 19672299, 23266820, 21696386, 29976978, 27509854, 23334465
NDUFS4 27671926, 14749350, 25613900, 14765537, 24020637, 27509854, 27079373, 22653057, 29590638, 22326555, 12616398, 18396137
NDUFS8 23430795, 29285794, 15159508, 21924235, 19672299, 9837812, 22200994, 20818383, 27509854
NDUFV2 27509854, 26008862
PDHA1 23840713, 8498846, 20002461, 21914562, 9187674, 19924563, 8664900, 28918066
SDHA 24781757, 10746566, 16798039, 22972948, 19465911, 7550341, 1511876, 9730279
SURF1 10556302, 25164807, 29601977, 10443880, 22488715, 29933018, 9843204, 27756633, 9837813
SUCLG1 27484306, 25613900, 17668387, 20693550, 9128182, 20197121, 19526370, 20453710, 29217198
SUCLA2 17287286, 28769029, 17301081, 24319143, 26475597, 23010432, 23759946, 27913098, 23385875, 25582465, 15877282, 25613900, 26952923
SCO2 15229189, 10545952, 20159436, 18924171, 16083427, 19837698, 11673586
LRPPRC 22045337, 27977873, 26510951, 12529507, 21266382, 25835550, 25428350, 18853439
FARS2 29126765, 22833457, 26553276, 27977873, 27549011, 22499341, 27095821
ETHE1 16376514, 26917598, 20528888, 25613900, 25878756, 20978941, 18593870, 19136963, 28753212, 27830356
UQCRQ 18439546, 25613900
TACO1 25044680, 27319982, 19503089
TTC19 21278747, 25887401, 29961508, 25452764, 24397319, 25613900, 28673544, 25772319
PTCD3 25613900, 30607703, 19427859
FOXRED1 20818383, 30392038, 31065540, 27215383, 25678554, 26022995
IARS2 25130867, 30041933, 25613900, 29980628
NDUFA12 27509854, 21617257, 24717771
NARS2 25807530, 29980628
SLC19A3 27191787, 27896110, 23469184, 23482991, 24166474, 23589815, 23423671, 19879271, 26975589, 24878502
GFM2 29075935, 26016410, 19716793, 22700954
GFM1 27977873, 23430926, 25852744, 18853439, 17160893, 21364917
NDUFS7 27509854, 17604671, 30972103, 15269216, 30429455, 10360771, 22644603
PET100 25613900, 8702496, 25293719, 24462369
PET117 25613900, 28386624, 27998984
Leigh Syndrome due to Mitochondrial Complex IV Deficiency C1850599 BCS1L 19162478, 21274865, 11528392, 10508156, 28427446, 25613900
COX10 17715058, 14607829, 12928484, 25613900, 2167310, 15455402, 24100867
COX15 12474143, 11788607, 21723506, 25613900, 15235026, 26039449
NDUFA1 28429146, 14722084, 8938439, 25356405, 29506883, 25356970, 17262856, 10200266, 28506826, 15293270
NDUFA2 22822087, 27626371, 18826940, 17209039, 28857146, 9878551, 21556144, 18513682, 27159321
NDUFA9 25613900, 23223238, 22114105, 28671271, 27509854
NDUFA10 28247337, 22200994, 27626371, 27509854, 21150889
NDUFS1 20382551, 11349233, 21458341, 1582426, 27626380, 21203893, 22200994, 25615419, 24952175, 9878551, 15186778, 1935949
NDUFS3 14729820, 22200994, 30140060, 28683319, 23519235, 18485875, 9878551, 22653752, 17267560, 18826940
NDUFV1 27344648, 23334465, 27509854, 29976978, 11349233, 30090137, 23266820, 30972103, 19672299, 21696386
NDUFS4 27509854, 27671926, 25613900, 14765537, 29590638, 22326555, 14749350, 18396137, 12616398, 27079373, 24020637, 22653057
NDUFS8 9837812, 23430795, 19672299, 22200994, 20818383, 21924235, 15159508, 27509854, 29285794
NDUFV2 26008862, 27509854
PDHA1 9187674, 23840713, 19924563, 20002461, 8664900, 8498846, 21914562, 28918066
SDHA 10746566, 1511876, 24781757, 22972948, 9730279, 19465911, 16798039, 7550341
SURF1 22488715, 10556302, 29933018, 10443880, 9837813, 9843204, 29601977, 25164807, 27756633
SUCLG1 20693550, 9128182, 20453710, 17668387, 19526370, 27484306, 29217198, 20197121, 25613900
SUCLA2 26952923, 28769029, 26475597, 17287286, 23385875, 23010432, 17301081, 27913098, 23759946, 25582465, 25613900, 15877282, 24319143
SCO2 20159436, 15229189, 10545952, 16083427, 11673586, 18924171, 19837698
LRPPRC 12529507, 18853439, 22045337, 21266382, 26510951, 25835550, 27977873, 25428350
FARS2 27977873, 22833457, 26553276, 27095821, 29126765, 22499341, 27549011
ETHE1 18593870, 20528888, 19136963, 16376514, 26917598, 25878756, 20978941, 25613900, 27830356, 28753212
UQCRQ 25613900, 18439546
CUTC
TACO1 19503089, 25044680, 27319982
TTC19 21278747, 25613900, 24397319, 28673544, 25887401, 25452764, 29961508, 25772319
PTCD3 19427859, 30607703, 25613900
FOXRED1 20818383, 27215383, 25678554, 30392038, 31065540, 26022995
IARS2 30041933, 25130867, 25613900, 29980628
NDUFA12 21617257, 27509854, 24717771
NARS2 29980628, 25807530
SLC19A3 23482991, 24166474, 23423671, 26975589, 24878502, 19879271, 27191787, 23469184, 27896110, 23589815
GFM2 19716793, 22700954, 29075935, 26016410
GFM1 18853439, 27977873, 23430926, 25852744, 21364917, 17160893
NDUFS7 15269216, 17604671, 22644603, 30972103, 30429455, 27509854, 10360771
PET100 25293719, 25613900, 8702496, 24462369
PET117 28386624, 27998984, 25613900
Leigh Syndrome due to Mitochondrial Complex V Deficiency C1850600 BCS1L 11528392, 19162478, 21274865, 10508156, 28427446, 25613900
COX10 24100867, 17715058, 2167310, 14607829, 12928484, 25613900, 15455402
COX15 21723506, 15235026, 26039449, 25613900, 12474143, 11788607
NDUFA1 10200266, 29506883, 15293270, 14722084, 17262856, 25356405, 8938439, 28429146, 28506826, 25356970
NDUFA2 28857146, 21556144, 27626371, 18513682, 17209039, 9878551, 27159321, 22822087, 18826940
NDUFA9 23223238, 28671271, 27509854, 22114105, 25613900
NDUFA10 27626371, 22200994, 21150889, 27509854, 28247337
NDUFS1 1935949, 1582426, 25615419, 21458341, 24952175, 11349233, 9878551, 27626380, 20382551, 21203893, 22200994, 15186778
NDUFS3 22200994, 18826940, 9878551, 23519235, 22653752, 14729820, 28683319, 17267560, 30140060, 18485875
NDUFV1 27509854, 11349233, 30090137, 30972103, 19672299, 21696386, 29976978, 23266820, 23334465, 27344648
NDUFS4 22653057, 22326555, 14765537, 27509854, 25613900, 12616398, 18396137, 27079373, 29590638, 27671926, 24020637, 14749350
NDUFS8 15159508, 21924235, 29285794, 23430795, 9837812, 19672299, 20818383, 27509854, 22200994
NDUFV2 26008862, 27509854
PDHA1 8664900, 8498846, 20002461, 28918066, 19924563, 9187674, 23840713, 21914562
SDHA 16798039, 10746566, 19465911, 1511876, 7550341, 24781757, 22972948, 9730279
SURF1 22488715, 9843204, 9837813, 27756633, 25164807, 10556302, 29601977, 29933018, 10443880
SUCLG1 17668387, 20197121, 20453710, 29217198, 27484306, 20693550, 9128182, 25613900, 19526370
SUCLA2 23010432, 26952923, 15877282, 27913098, 17301081, 25613900, 24319143, 23759946, 17287286, 25582465, 26475597, 28769029, 23385875
SCO2 20159436, 19837698, 18924171, 10545952, 16083427, 15229189, 11673586
LRPPRC 18853439, 21266382, 12529507, 27977873, 25428350, 26510951, 22045337, 25835550
FARS2 27549011, 26553276, 27977873, 22833457, 27095821, 29126765, 22499341
ETHE1 19136963, 26917598, 25613900, 25878756, 20528888, 27830356, 20978941, 18593870, 16376514, 28753212
UQCRQ 18439546, 25613900
TACO1 19503089, 27319982, 25044680
TTC19 24397319, 25887401, 21278747, 25772319, 29961508, 28673544, 25452764, 25613900
PTCD3 30607703, 19427859, 25613900
FOXRED1 27215383, 31065540, 20818383, 30392038, 25678554, 26022995
IARS2 25130867, 29980628, 25613900, 30041933
NDUFA12 27509854, 21617257, 24717771
NARS2 29980628, 25807530
SLC19A3 24878502, 26975589, 23423671, 27191787, 19879271, 23469184, 27896110, 24166474, 23589815, 23482991
GFM2 19716793, 26016410, 22700954, 29075935
GFM1 25852744, 21364917, 27977873, 17160893, 18853439, 23430926
NDUFS7 22644603, 10360771, 30972103, 15269216, 17604671, 27509854, 30429455
PET100 25293719, 24462369, 25613900, 8702496
PET117 28386624, 25613900, 27998984