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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]
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