Leigh syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Leigh Syndrome Due To Mitochondrial Complex II Deficiency C1850597 NDUFS8 Causal Pathogenic evidence from ClinVar 9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 27509854, 29285794 ClinVar
NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16798039, 19465911, 22972948, 24781757 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018 ClinVar
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
Leigh Syndrome due to Mitochondrial Complex III Deficiency C1850598 NDUFS8 Causal Pathogenic evidence from ClinVar 9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 27509854, 29285794 ClinVar
NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16798039, 19465911, 22972948, 24781757 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018 ClinVar
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
Leigh Syndrome due to Mitochondrial Complex IV Deficiency C1850599 NDUFS8 Causal Pathogenic evidence from ClinVar 9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 27509854, 29285794 ClinVar
NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16798039, 19465911, 22972948, 24781757 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018 ClinVar
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
CUTC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
Leigh Syndrome due to Mitochondrial Complex V Deficiency C1850600 NDUFS8 Causal Pathogenic evidence from ClinVar 9837812, 15159508, 19672299, 20818383, 21924235, 22200994, 23430795, 27509854, 29285794 ClinVar
NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16798039, 19465911, 22972948, 24781757 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018 ClinVar
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
Leigh Disease C0023264 NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16361598, 16798039, 19465911, 22972948, 24781757, 27604308, 27683074 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 10558868, 10636738, 10647889, 10746561, 12515039, 14557577, 14564068, 16326995, 16542579, 16765830, 18583168, 18804471, 21611066, 21937992, 22310368, 22410471, 22488715, 23829769, 24027061, 24462369, 25164807, 25629267, 26257172, 26341968, 27604308, 27756633, 27896082, 29481804, 29601977, 29933018 ClinVar
ATP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1436530, 1550128, 2137962, 7668837, 8190310, 8395787, 8554662, 8602753, 9270604, 9501263, 9556461, 9631394, 11119722, 11245730, 11382202, 11731285, 16217706, 17352390, 18461509, 22789932, 23206802, 23266623, 24002810, 24118886 -
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 10545952, 10767350, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
COX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11063732, 20525945 -
CUTC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15863660, 21412973, 22310368, 26959537 -
CYTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11047755 -
DLD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27604308 -
EME2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
GFM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19716793, 22700954, 26016410, 29075935 -
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY C1838951 NDUFV1 Causal Pathogenic evidence from ClinVar 11349233, 19672299, 21696386, 23266820, 23334465, 27344648, 27509854, 29976978, 30090137, 30972103 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 1511876, 7550341, 9730279, 10746566, 16798039, 19465911, 22972948, 24781757 ClinVar
SURF1 Causal Pathogenic evidence from ClinVar 9837813, 9843204, 10443880, 10556302, 22488715, 25164807, 27756633, 29601977, 29933018 ClinVar
COX10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2167310, 12928484, 14607829, 15455402, 17715058, 24100867, 25613900 -
ETHE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16376514, 18593870, 19136963, 20528888, 20978941, 25613900, 25878756, 26917598, 27830356, 28753212 -
GFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17160893, 18853439, 21364917, 23430926, 25852744, 27977873 -
GFM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19716793, 22700954, 26016410, 29075935 -
Leigh syndrome , French Canadian type C1857355 SURF1 Causal Pathogenic evidence from ClinVar 16326995 ClinVar