Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1352
Gene name	Cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Gene symbol	COX10
Synonyms (NCBI Gene)	MC4DN3
Chromosome	17
Chromosome location	17p12
Summary	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894555	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894556	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894557	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894560	C>A	Pathogenic	Missense variant, coding sequence variant
rs113058506	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant
rs144000161	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368918847	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs369511505	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs587780911	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1597527946	A>G	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020193	hsa-miR-130b-3p	Sequencing	20371350
MIRT027567	hsa-miR-98-5p	Microarray	19088304
MIRT031141	hsa-miR-19b-3p	Sequencing	20371350
MIRT051700	hsa-let-7e-5p	CLASH	23622248
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT461258	hsa-miR-302e	PAR-CLIP	21572407
MIRT461257	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT461256	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT461254	hsa-miR-520b	PAR-CLIP	21572407
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT461251	hsa-miR-520e	PAR-CLIP	21572407
MIRT076038	hsa-miR-8062	PAR-CLIP	21572407
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT076035	hsa-miR-3666	PAR-CLIP	21572407
MIRT076034	hsa-miR-4295	PAR-CLIP	21572407
MIRT076031	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT461250	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT461249	hsa-miR-509-3p	PAR-CLIP	21572407
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	21572407
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT461248	hsa-miR-5100	PAR-CLIP	21572407
MIRT076027	hsa-miR-432-3p	PAR-CLIP	21572407
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT461258	hsa-miR-302e	PAR-CLIP	22012620
MIRT461257	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT461256	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT461254	hsa-miR-520b	PAR-CLIP	22012620
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT461251	hsa-miR-520e	PAR-CLIP	22012620
MIRT076038	hsa-miR-8062	PAR-CLIP	22012620
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT076035	hsa-miR-3666	PAR-CLIP	22012620
MIRT076034	hsa-miR-4295	PAR-CLIP	22012620
MIRT076031	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT461250	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT461249	hsa-miR-509-3p	PAR-CLIP	22012620
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	22012620
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT461248	hsa-miR-5100	PAR-CLIP	22012620
MIRT076027	hsa-miR-432-3p	PAR-CLIP	22012620
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT461295	hsa-miR-4506	PAR-CLIP	23592263
MIRT461268	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT461294	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT461293	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT461291	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT461292	hsa-miR-4257	PAR-CLIP	23592263
MIRT461290	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT461289	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT461288	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT461287	hsa-miR-1180-5p	PAR-CLIP	23592263
MIRT461286	hsa-miR-7114-3p	PAR-CLIP	23592263
MIRT461285	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT461284	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT461283	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT461282	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT461281	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT461280	hsa-miR-4488	PAR-CLIP	23592263
MIRT461279	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT461278	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT461277	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT461276	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT461275	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT461274	hsa-miR-4651	PAR-CLIP	23592263
MIRT461273	hsa-miR-608	PAR-CLIP	23592263
MIRT461272	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT461271	hsa-miR-6073	PAR-CLIP	23592263
MIRT461270	hsa-miR-4447	PAR-CLIP	23592263
MIRT461269	hsa-miR-4472	PAR-CLIP	23592263
MIRT461268	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT461267	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT461266	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT461264	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT461265	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT461263	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT461258	hsa-miR-302e	PAR-CLIP	23592263
MIRT461257	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT461256	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT461254	hsa-miR-520b	PAR-CLIP	23592263
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT461251	hsa-miR-520e	PAR-CLIP	23592263
MIRT076038	hsa-miR-8062	PAR-CLIP	23592263
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT076035	hsa-miR-3666	PAR-CLIP	23592263
MIRT076034	hsa-miR-4295	PAR-CLIP	23592263
MIRT076031	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT461250	hsa-miR-205-3p	PAR-CLIP	23592263
MIRT461249	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	23592263
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT461248	hsa-miR-5100	PAR-CLIP	23592263
MIRT076027	hsa-miR-432-3p	PAR-CLIP	23592263
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT076024	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031141	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT461258	hsa-miR-302e	PAR-CLIP	21572407
MIRT461257	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT461256	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT461254	hsa-miR-520b	PAR-CLIP	21572407
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT461251	hsa-miR-520e	PAR-CLIP	21572407
MIRT076038	hsa-miR-8062	PAR-CLIP	21572407
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT076035	hsa-miR-3666	PAR-CLIP	21572407
MIRT076034	hsa-miR-4295	PAR-CLIP	21572407
MIRT076031	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT461250	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT461249	hsa-miR-509-3p	PAR-CLIP	21572407
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	21572407
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT461248	hsa-miR-5100	PAR-CLIP	21572407
MIRT076027	hsa-miR-432-3p	PAR-CLIP	21572407
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	21572407
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT461258	hsa-miR-302e	PAR-CLIP	22012620
MIRT461257	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT461256	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT461254	hsa-miR-520b	PAR-CLIP	22012620
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT461251	hsa-miR-520e	PAR-CLIP	22012620
MIRT076038	hsa-miR-8062	PAR-CLIP	22012620
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT076035	hsa-miR-3666	PAR-CLIP	22012620
MIRT076034	hsa-miR-4295	PAR-CLIP	22012620
MIRT076031	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT461250	hsa-miR-205-3p	PAR-CLIP	22012620
MIRT461249	hsa-miR-509-3p	PAR-CLIP	22012620
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	22012620
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT461248	hsa-miR-5100	PAR-CLIP	22012620
MIRT076027	hsa-miR-432-3p	PAR-CLIP	22012620
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT461295	hsa-miR-4506	PAR-CLIP	23592263
MIRT461268	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT461294	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT461293	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT461291	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT461292	hsa-miR-4257	PAR-CLIP	23592263
MIRT461290	hsa-miR-199a-3p	PAR-CLIP	23592263
MIRT461289	hsa-miR-199b-3p	PAR-CLIP	23592263
MIRT461288	hsa-miR-3129-5p	PAR-CLIP	23592263
MIRT461287	hsa-miR-1180-5p	PAR-CLIP	23592263
MIRT461286	hsa-miR-7114-3p	PAR-CLIP	23592263
MIRT461285	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT461284	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT461283	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT461282	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT461281	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT461280	hsa-miR-4488	PAR-CLIP	23592263
MIRT461279	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT461278	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT461277	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT461276	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT461275	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT461274	hsa-miR-4651	PAR-CLIP	23592263
MIRT461273	hsa-miR-608	PAR-CLIP	23592263
MIRT461272	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT461271	hsa-miR-6073	PAR-CLIP	23592263
MIRT461270	hsa-miR-4447	PAR-CLIP	23592263
MIRT461269	hsa-miR-4472	PAR-CLIP	23592263
MIRT461268	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT461267	hsa-miR-520a-5p	PAR-CLIP	23592263
MIRT461266	hsa-miR-525-5p	PAR-CLIP	23592263
MIRT461264	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT461265	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT461263	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT076030	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT076029	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT076028	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT461262	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT461261	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT461260	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT461259	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT461258	hsa-miR-302e	PAR-CLIP	23592263
MIRT461257	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT461256	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT461255	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT461254	hsa-miR-520b	PAR-CLIP	23592263
MIRT461253	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT461252	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT461251	hsa-miR-520e	PAR-CLIP	23592263
MIRT076038	hsa-miR-8062	PAR-CLIP	23592263
MIRT076025	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT020193	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT076026	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT076032	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT076035	hsa-miR-3666	PAR-CLIP	23592263
MIRT076034	hsa-miR-4295	PAR-CLIP	23592263
MIRT076031	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT461250	hsa-miR-205-3p	PAR-CLIP	23592263
MIRT461249	hsa-miR-509-3p	PAR-CLIP	23592263
MIRT076036	hsa-miR-4764-5p	PAR-CLIP	23592263
MIRT076024	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT031141	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT461248	hsa-miR-5100	PAR-CLIP	23592263
MIRT076027	hsa-miR-432-3p	PAR-CLIP	23592263
MIRT461247	hsa-miR-3942-3p	PAR-CLIP	23592263
MIRT904858	hsa-miR-1184	CLIP-seq
MIRT904859	hsa-miR-1205	CLIP-seq
MIRT904860	hsa-miR-1225-5p	CLIP-seq
MIRT904861	hsa-miR-1228	CLIP-seq
MIRT904862	hsa-miR-1245	CLIP-seq
MIRT904863	hsa-miR-2110	CLIP-seq
MIRT904864	hsa-miR-2115	CLIP-seq
MIRT904865	hsa-miR-3150a-3p	CLIP-seq
MIRT904866	hsa-miR-3150b-3p	CLIP-seq
MIRT904867	hsa-miR-3158-5p	CLIP-seq
MIRT904868	hsa-miR-3160-3p	CLIP-seq
MIRT904869	hsa-miR-3166	CLIP-seq
MIRT904870	hsa-miR-3175	CLIP-seq
MIRT904871	hsa-miR-3199	CLIP-seq
MIRT904872	hsa-miR-4260	CLIP-seq
MIRT904873	hsa-miR-4300	CLIP-seq
MIRT904874	hsa-miR-4477a	CLIP-seq
MIRT904875	hsa-miR-4487	CLIP-seq
MIRT904876	hsa-miR-4522	CLIP-seq
MIRT904877	hsa-miR-4523	CLIP-seq
MIRT904878	hsa-miR-4685-5p	CLIP-seq
MIRT904879	hsa-miR-4689	CLIP-seq
MIRT904880	hsa-miR-4701-5p	CLIP-seq
MIRT904881	hsa-miR-4709-5p	CLIP-seq
MIRT904882	hsa-miR-4759	CLIP-seq
MIRT904883	hsa-miR-4771	CLIP-seq
MIRT904884	hsa-miR-4784	CLIP-seq
MIRT904885	hsa-miR-4786-5p	CLIP-seq
MIRT904886	hsa-miR-4796-5p	CLIP-seq
MIRT904887	hsa-miR-516a-3p	CLIP-seq
MIRT904888	hsa-miR-518a-5p	CLIP-seq
MIRT904889	hsa-miR-527	CLIP-seq
MIRT904890	hsa-miR-548a-3p	CLIP-seq
MIRT904891	hsa-miR-548ae	CLIP-seq
MIRT904892	hsa-miR-548aj	CLIP-seq
MIRT904893	hsa-miR-548am	CLIP-seq
MIRT904894	hsa-miR-548e	CLIP-seq
MIRT904895	hsa-miR-548f	CLIP-seq
MIRT904896	hsa-miR-548g	CLIP-seq
MIRT904897	hsa-miR-548x	CLIP-seq
MIRT904898	hsa-miR-555	CLIP-seq
MIRT904899	hsa-miR-558	CLIP-seq
MIRT904900	hsa-miR-586	CLIP-seq
MIRT904901	hsa-miR-588	CLIP-seq
MIRT904902	hsa-miR-920	CLIP-seq
MIRT904903	hsa-miR-939	CLIP-seq
MIRT1547444	hsa-miR-4499	CLIP-seq
MIRT1547445	hsa-miR-4793-5p	CLIP-seq
MIRT1547446	hsa-miR-570	CLIP-seq
MIRT1968343	hsa-miR-1245b-5p	CLIP-seq
MIRT1968344	hsa-miR-1252	CLIP-seq
MIRT1968345	hsa-miR-1304	CLIP-seq
MIRT1968346	hsa-miR-1324	CLIP-seq
MIRT1968347	hsa-miR-202	CLIP-seq
MIRT904863	hsa-miR-2110	CLIP-seq
MIRT904864	hsa-miR-2115	CLIP-seq
MIRT1968348	hsa-miR-3126-5p	CLIP-seq
MIRT1968349	hsa-miR-3142	CLIP-seq
MIRT904866	hsa-miR-3150b-3p	CLIP-seq
MIRT1968350	hsa-miR-3170	CLIP-seq
MIRT1968351	hsa-miR-3179	CLIP-seq
MIRT1968352	hsa-miR-3180-5p	CLIP-seq
MIRT1968353	hsa-miR-3202	CLIP-seq
MIRT1968354	hsa-miR-3649	CLIP-seq
MIRT1968355	hsa-miR-3670	CLIP-seq
MIRT1968356	hsa-miR-3713	CLIP-seq
MIRT1968357	hsa-miR-3907	CLIP-seq
MIRT1968358	hsa-miR-4419a	CLIP-seq
MIRT1968359	hsa-miR-4476	CLIP-seq
MIRT904874	hsa-miR-4477a	CLIP-seq
MIRT1968360	hsa-miR-4510	CLIP-seq
MIRT1968361	hsa-miR-4774-5p	CLIP-seq
MIRT904884	hsa-miR-4784	CLIP-seq
MIRT1968362	hsa-miR-492	CLIP-seq
MIRT904887	hsa-miR-516a-3p	CLIP-seq
MIRT2204151	hsa-miR-101	CLIP-seq
MIRT1968344	hsa-miR-1252	CLIP-seq
MIRT2204152	hsa-miR-140-3p	CLIP-seq
MIRT2204153	hsa-miR-144	CLIP-seq
MIRT1968347	hsa-miR-202	CLIP-seq
MIRT904864	hsa-miR-2115	CLIP-seq
MIRT2204154	hsa-miR-3154	CLIP-seq
MIRT1968351	hsa-miR-3179	CLIP-seq
MIRT1968352	hsa-miR-3180-5p	CLIP-seq
MIRT2204155	hsa-miR-4699-5p	CLIP-seq
MIRT904881	hsa-miR-4709-5p	CLIP-seq
MIRT904886	hsa-miR-4796-5p	CLIP-seq
MIRT2204156	hsa-miR-486-3p	CLIP-seq
MIRT904887	hsa-miR-516a-3p	CLIP-seq
MIRT2204157	hsa-miR-637	CLIP-seq
MIRT2386390	hsa-miR-210	CLIP-seq
MIRT2386391	hsa-miR-323-5p	CLIP-seq
MIRT2386392	hsa-miR-3650	CLIP-seq
MIRT1968355	hsa-miR-3670	CLIP-seq
MIRT2386393	hsa-miR-876-3p	CLIP-seq
MIRT2447484	hsa-miR-146a	CLIP-seq
MIRT2447485	hsa-miR-146b-5p	CLIP-seq
MIRT2447486	hsa-miR-3664-5p	CLIP-seq
MIRT2447487	hsa-miR-409-3p	CLIP-seq
MIRT2447488	hsa-miR-4680-5p	CLIP-seq
MIRT2447484	hsa-miR-146a	CLIP-seq
MIRT2447485	hsa-miR-146b-5p	CLIP-seq
MIRT2447486	hsa-miR-3664-5p	CLIP-seq
MIRT2447487	hsa-miR-409-3p	CLIP-seq
MIRT2447488	hsa-miR-4680-5p	CLIP-seq
MIRT2204151	hsa-miR-101	CLIP-seq
MIRT2507637	hsa-miR-122	CLIP-seq
MIRT2507638	hsa-miR-1227	CLIP-seq
MIRT904862	hsa-miR-1245	CLIP-seq
MIRT2507639	hsa-miR-1285	CLIP-seq
MIRT2507640	hsa-miR-1294	CLIP-seq
MIRT2204153	hsa-miR-144	CLIP-seq
MIRT2447484	hsa-miR-146a	CLIP-seq
MIRT2447485	hsa-miR-146b-5p	CLIP-seq
MIRT1968347	hsa-miR-202	CLIP-seq
MIRT2386390	hsa-miR-210	CLIP-seq
MIRT2507641	hsa-miR-2392	CLIP-seq
MIRT2507642	hsa-miR-297	CLIP-seq
MIRT2507643	hsa-miR-3125	CLIP-seq
MIRT2507644	hsa-miR-3176	CLIP-seq
MIRT2507645	hsa-miR-3177-5p	CLIP-seq
MIRT2507646	hsa-miR-3187-5p	CLIP-seq
MIRT2386391	hsa-miR-323-5p	CLIP-seq
MIRT2507647	hsa-miR-3607-5p	CLIP-seq
MIRT2386392	hsa-miR-3650	CLIP-seq
MIRT2507648	hsa-miR-3663-3p	CLIP-seq
MIRT2447486	hsa-miR-3664-5p	CLIP-seq
MIRT1968356	hsa-miR-3713	CLIP-seq
MIRT2507649	hsa-miR-3916	CLIP-seq
MIRT2507650	hsa-miR-3922-3p	CLIP-seq
MIRT2507651	hsa-miR-3945	CLIP-seq
MIRT2447487	hsa-miR-409-3p	CLIP-seq
MIRT2507652	hsa-miR-4252	CLIP-seq
MIRT2507653	hsa-miR-4253	CLIP-seq
MIRT2507654	hsa-miR-4316	CLIP-seq
MIRT2507655	hsa-miR-4420	CLIP-seq
MIRT904874	hsa-miR-4477a	CLIP-seq
MIRT2507656	hsa-miR-4491	CLIP-seq
MIRT2507657	hsa-miR-4640-3p	CLIP-seq
MIRT2507658	hsa-miR-4657	CLIP-seq
MIRT2447488	hsa-miR-4680-5p	CLIP-seq
MIRT904878	hsa-miR-4685-5p	CLIP-seq
MIRT904880	hsa-miR-4701-5p	CLIP-seq
MIRT2507659	hsa-miR-4731-5p	CLIP-seq
MIRT1968361	hsa-miR-4774-5p	CLIP-seq
MIRT2507660	hsa-miR-567	CLIP-seq
MIRT2507661	hsa-miR-574-5p	CLIP-seq
MIRT2507662	hsa-miR-583	CLIP-seq
MIRT904901	hsa-miR-588	CLIP-seq
MIRT2507663	hsa-miR-612	CLIP-seq
MIRT2507664	hsa-miR-648	CLIP-seq
MIRT2386393	hsa-miR-876-3p	CLIP-seq
MIRT2204151	hsa-miR-101	CLIP-seq
MIRT2507637	hsa-miR-122	CLIP-seq
MIRT2507638	hsa-miR-1227	CLIP-seq
MIRT2507639	hsa-miR-1285	CLIP-seq
MIRT2204153	hsa-miR-144	CLIP-seq
MIRT2447484	hsa-miR-146a	CLIP-seq
MIRT2447485	hsa-miR-146b-5p	CLIP-seq
MIRT1968347	hsa-miR-202	CLIP-seq
MIRT2386390	hsa-miR-210	CLIP-seq
MIRT2507644	hsa-miR-3176	CLIP-seq
MIRT2507646	hsa-miR-3187-5p	CLIP-seq
MIRT2386391	hsa-miR-323-5p	CLIP-seq
MIRT2386392	hsa-miR-3650	CLIP-seq
MIRT2447486	hsa-miR-3664-5p	CLIP-seq
MIRT1968356	hsa-miR-3713	CLIP-seq
MIRT2507650	hsa-miR-3922-3p	CLIP-seq
MIRT2507651	hsa-miR-3945	CLIP-seq
MIRT2447487	hsa-miR-409-3p	CLIP-seq
MIRT2507652	hsa-miR-4252	CLIP-seq
MIRT2507653	hsa-miR-4253	CLIP-seq
MIRT904874	hsa-miR-4477a	CLIP-seq
MIRT2507656	hsa-miR-4491	CLIP-seq
MIRT2507658	hsa-miR-4657	CLIP-seq
MIRT2447488	hsa-miR-4680-5p	CLIP-seq
MIRT904880	hsa-miR-4701-5p	CLIP-seq
MIRT2507659	hsa-miR-4731-5p	CLIP-seq
MIRT1968361	hsa-miR-4774-5p	CLIP-seq
MIRT2507661	hsa-miR-574-5p	CLIP-seq
MIRT904901	hsa-miR-588	CLIP-seq
MIRT2507663	hsa-miR-612	CLIP-seq
MIRT2507664	hsa-miR-648	CLIP-seq
MIRT2386393	hsa-miR-876-3p	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000266	Process	Mitochondrial fission	IEA
GO:0002521	Process	Leukocyte differentiation	IEA
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	IGI	8078902
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	TAS	8078902
GO:0004659	Function	Prenyltransferase activity	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IC	14607829
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS
GO:0006784	Process	Heme A biosynthetic process	IBA
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006784	Process	Heme A biosynthetic process	IMP	12928484
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008495	Function	Protoheme IX farnesyltransferase activity	IBA
GO:0008495	Function	Protoheme IX farnesyltransferase activity	IEA
GO:0008495	Function	Protoheme IX farnesyltransferase activity	TAS
GO:0008535	Process	Respiratory chain complex IV assembly	IMP	14607829
GO:0009060	Process	Aerobic respiration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0017004	Process	Cytochrome complex assembly	IEA
GO:0017004	Process	Cytochrome complex assembly	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0055070	Process	Copper ion homeostasis	IEA
GO:0070069	Component	Cytochrome complex	IMP	12928484

MIM	HGNC	e!Ensembl
602125	2260	ENSG00000006695

Q12887

Protein name

Protoheme IX farnesyltransferase, mitochondrial (EC 2.5.1.141) (Heme O synthase)

Protein function

Converts protoheme IX and farnesyl diphosphate to heme O.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01040	UbiA	168 → 418	UbiA prenyltransferase family	Family

Sequence

MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMY
VTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIE
LEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALA
PGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFA
TCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGW
TAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRH
CLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLP
LLLLLMLTCKRPSGGGDAGPPPS

Sequence length

443

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors Thermogenesis		Heme biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex IV deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs104894557, rs1597527946	RCV000995747 RCV000995746	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 3	Likely pathogenic; Pathogenic	rs1425392070, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs2508434662	RCV005005942 RCV000007956 RCV000007958 RCV000007959 RCV000007960 RCV000007961 RCV000007962 RCV003333397 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COX10-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	12928484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	31821324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32190687, 36463760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	BEFREE	12928484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	9403059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	15241798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31821324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31821324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	11013136, 22515166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	10545952, 10767350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	10767350, 12928484, 22515166, 24100867		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	UNIPROT_DG	10767350, 12928484, 26741492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	10767350, 12928484, 15455402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22095239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	11579424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30268775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30984540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	9285799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	10545952, 10767350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	12928484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	11044474, 12928484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30689196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24100867, 28591633		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	12928484, 14607829, 15455402, 17715058, 2167310, 24100867, 25613900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34440306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	35288364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28415559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32190687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	31821324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10)