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Entry Name Description Category Pathway Gene
H00473 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... Inherited metabolic disorder, Mitochondrial disease (MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
(MC1DN39) NDUFB7 [HSA:4713] [KO:K03963]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
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]
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