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Entry Name Description Category Pathway Gene
H01354 Leigh syndrome Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... Inherited metabolic disorder, Mitochondrial disease NDUFS3 [HSA:4722] [KO:K03936]
NDUFS4 [HSA:4724] [KO:K03937]
NDUFS7 [HSA:374291] [KO:K03940]
NDUFS8 [HSA:4728] [KO:K03941]
NDUFA2 [HSA:4695] [KO:K03946]
NDUFA9 [HSA:4704] [KO:K03953]
NDUFA10 [HSA:4705] [KO:K03954]
NDUFA12 [HSA:55967] [KO:K11352]
NDUFAF2 [HSA:91942] [KO:K18160]
NDUFAF6 [HSA:137682] [KO:K18163]
FOXRED1 [HSA:55572] [KO:K18166]
SDHA [HSA:6389] [KO:K00234]
COX10 [HSA:1352] [KO:K02257]
COX15 [HSA:1355] [KO:K02259]
SURF1 [HSA:6834] [KO:K14998]
BCS1L [HSA:617] [KO:K08900]
TACO1 [HSA:51204] [KO:K18189]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
H01368 Cytochrome c oxidase (COX) deficiency
Mitochondrial complex IV deficiency (MT-C4D) 		Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex ... Inherited metabolic disorder, Mitochondrial disease (MC4DN1) SURF1 [HSA:6834] [KO:K14998]
(MC4DN2) SCO2 [HSA:9997] [KO:K23755]
(MC4DN3) COX10 [HSA:1352] [KO:K02257]
(MC4DN4) SCO1 [HSA:6341] [KO:K07152]
(MC4DN5) LRPPRC [HSA:10128] [KO:K17964]
(MC4DN6) COX15 [HSA:1355] [KO:K02259]
(MC4DN7) COX6B1 [HSA:1340] [KO:K02267]
(MC4DN8) TACO1 [HSA:51204] [KO:K18189]
(MC4DN9) COA5 [HSA:493753] [KO:K18178]
(MC4DN10) COX14 [HSA:84987] [KO:K18181]
(MC4DN11) COX20 [HSA:116228] [KO:K18184]
(MC4DN12) PET100 [HSA:100131801] [KO:K18186]
(MC4DN13) COA6 [HSA:388753] [KO:K18179]
(MC4DN14) COA3 [HSA:28958] [KO:K18175]
(MC4DN15) COX8A [HSA:1351] [KO:K02273]
(MC4DN16) COX4I1 [HSA:1327] [KO:K02263]
(MC4DN17) COA8 [HSA:84334] [KO:K23506]
(MC4DN18) COX6A2 [HSA:1339] [KO:K02266]
(MC4DN19) PET117 [HSA:100303755] [KO:K18188]
(MC4DN20) COX5A [HSA:9377] [KO:K02264]
(MC4DN21) NDUFA4 [HSA:4697] [KO:K03948]
(MC4DN22) COX16 [HSA:51241] [KO:K18182]
(MC4DN23) COX11 [HSA:1353] [KO:K02258]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(MT-C4D) COX1 [HSA:4512] [KO:K02256]
(MT-C4D) COX2 [HSA:4513] [KO:K02261]
(MT-C4D) COX3 [HSA:4514] [KO:K02262]
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