COA5 (cytochrome c oxidase assembly factor 5)

Gene

• Entrez ID: 493753
• Gene name: Cytochrome c oxidase assembly factor 5
• Gene symbol: COA5
• Synonyms (NCBI Gene): 6330578E17Rik, C2orf64, CEMCOX3, MC4DN9, Pet191
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907099	C>G,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT529960	hsa-miR-6871-5p	PAR-CLIP	22012620
MIRT529959	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT529958	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT529957	hsa-miR-8085	PAR-CLIP	22012620
MIRT529956	hsa-miR-548aw	PAR-CLIP	22012620
MIRT529955	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT529954	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT529953	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT529952	hsa-miR-450b-5p	PAR-CLIP	22012620
MIRT529960	hsa-miR-6871-5p	PAR-CLIP	22012620
MIRT529959	hsa-miR-6878-5p	PAR-CLIP	22012620
MIRT529958	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT529957	hsa-miR-8085	PAR-CLIP	22012620
MIRT529956	hsa-miR-548aw	PAR-CLIP	22012620
MIRT529955	hsa-miR-30c-1-3p	PAR-CLIP	22012620
MIRT529954	hsa-miR-30c-2-3p	PAR-CLIP	22012620
MIRT529953	hsa-miR-6788-5p	PAR-CLIP	22012620
MIRT529952	hsa-miR-450b-5p	PAR-CLIP	22012620
MIRT901969	hsa-miR-1237	CLIP-seq
MIRT901970	hsa-miR-1299	CLIP-seq
MIRT901971	hsa-miR-154	CLIP-seq
MIRT901972	hsa-miR-2052	CLIP-seq
MIRT901973	hsa-miR-3074-5p	CLIP-seq
MIRT901974	hsa-miR-3123	CLIP-seq
MIRT901975	hsa-miR-335	CLIP-seq
MIRT901976	hsa-miR-3646	CLIP-seq
MIRT901977	hsa-miR-3682-5p	CLIP-seq
MIRT901978	hsa-miR-3929	CLIP-seq
MIRT901979	hsa-miR-4276	CLIP-seq
MIRT901980	hsa-miR-4307	CLIP-seq
MIRT901981	hsa-miR-4419b	CLIP-seq
MIRT901982	hsa-miR-4478	CLIP-seq
MIRT901983	hsa-miR-4659a-3p	CLIP-seq
MIRT901984	hsa-miR-4659b-3p	CLIP-seq
MIRT901985	hsa-miR-4663	CLIP-seq
MIRT901986	hsa-miR-4699-3p	CLIP-seq
MIRT901987	hsa-miR-4719	CLIP-seq
MIRT901988	hsa-miR-4729	CLIP-seq
MIRT901989	hsa-miR-4782-5p	CLIP-seq
MIRT901990	hsa-miR-4789-5p	CLIP-seq
MIRT901991	hsa-miR-516b	CLIP-seq
MIRT901992	hsa-miR-548l	CLIP-seq
MIRT901993	hsa-miR-548n	CLIP-seq
MIRT901994	hsa-miR-556-3p	CLIP-seq
MIRT901995	hsa-miR-567	CLIP-seq
MIRT901996	hsa-miR-890	CLIP-seq
MIRT901969	hsa-miR-1237	CLIP-seq
MIRT901970	hsa-miR-1299	CLIP-seq
MIRT1967540	hsa-miR-1323	CLIP-seq
MIRT901976	hsa-miR-3646	CLIP-seq
MIRT1967541	hsa-miR-371-5p	CLIP-seq
MIRT1967542	hsa-miR-371b-5p	CLIP-seq
MIRT901978	hsa-miR-3929	CLIP-seq
MIRT901981	hsa-miR-4419b	CLIP-seq
MIRT901982	hsa-miR-4478	CLIP-seq
MIRT1967543	hsa-miR-4521	CLIP-seq
MIRT901983	hsa-miR-4659a-3p	CLIP-seq
MIRT901984	hsa-miR-4659b-3p	CLIP-seq
MIRT1967544	hsa-miR-4684-5p	CLIP-seq
MIRT1967545	hsa-miR-4709-3p	CLIP-seq
MIRT901987	hsa-miR-4719	CLIP-seq
MIRT901988	hsa-miR-4729	CLIP-seq
MIRT1967546	hsa-miR-4762-5p	CLIP-seq
MIRT901989	hsa-miR-4782-5p	CLIP-seq
MIRT1967547	hsa-miR-4795-3p	CLIP-seq
MIRT1967548	hsa-miR-513c	CLIP-seq
MIRT1967549	hsa-miR-514b-5p	CLIP-seq
MIRT901991	hsa-miR-516b	CLIP-seq
MIRT1967550	hsa-miR-518a-5p	CLIP-seq
MIRT1967551	hsa-miR-527	CLIP-seq
MIRT1967552	hsa-miR-548o	CLIP-seq
MIRT1967553	hsa-miR-592	CLIP-seq
MIRT1967554	hsa-miR-597	CLIP-seq
MIRT1967555	hsa-miR-892a	CLIP-seq
MIRT1967556	hsa-miR-942	CLIP-seq
MIRT901969	hsa-miR-1237	CLIP-seq
MIRT901970	hsa-miR-1299	CLIP-seq
MIRT2203287	hsa-miR-193a-3p	CLIP-seq
MIRT2203288	hsa-miR-193b	CLIP-seq
MIRT2203289	hsa-miR-3117-5p	CLIP-seq
MIRT2203290	hsa-miR-3124-3p	CLIP-seq
MIRT2203291	hsa-miR-3136-3p	CLIP-seq
MIRT2203292	hsa-miR-3160-3p	CLIP-seq
MIRT2203293	hsa-miR-3607-5p	CLIP-seq
MIRT2203294	hsa-miR-3660	CLIP-seq
MIRT2203295	hsa-miR-3663-5p	CLIP-seq
MIRT901977	hsa-miR-3682-5p	CLIP-seq
MIRT2203296	hsa-miR-3908	CLIP-seq
MIRT901978	hsa-miR-3929	CLIP-seq
MIRT2203297	hsa-miR-3942-5p	CLIP-seq
MIRT2203298	hsa-miR-4256	CLIP-seq
MIRT901979	hsa-miR-4276	CLIP-seq
MIRT2203299	hsa-miR-4301	CLIP-seq
MIRT901981	hsa-miR-4419b	CLIP-seq
MIRT2203300	hsa-miR-4433	CLIP-seq
MIRT901982	hsa-miR-4478	CLIP-seq
MIRT2203301	hsa-miR-4526	CLIP-seq
MIRT2203302	hsa-miR-4633-3p	CLIP-seq
MIRT2203303	hsa-miR-4653-3p	CLIP-seq
MIRT2203304	hsa-miR-4668-5p	CLIP-seq
MIRT2203305	hsa-miR-4703-5p	CLIP-seq
MIRT2203306	hsa-miR-4716-5p	CLIP-seq
MIRT2203307	hsa-miR-4766-3p	CLIP-seq
MIRT901989	hsa-miR-4782-5p	CLIP-seq
MIRT1967547	hsa-miR-4795-3p	CLIP-seq
MIRT901991	hsa-miR-516b	CLIP-seq
MIRT901994	hsa-miR-556-3p	CLIP-seq
MIRT1967555	hsa-miR-892a	CLIP-seq
MIRT2203287	hsa-miR-193a-3p	CLIP-seq
MIRT2203288	hsa-miR-193b	CLIP-seq
MIRT2203289	hsa-miR-3117-5p	CLIP-seq
MIRT2386326	hsa-miR-3138	CLIP-seq
MIRT2203292	hsa-miR-3160-3p	CLIP-seq
MIRT2386327	hsa-miR-432	CLIP-seq
MIRT2386328	hsa-miR-4491	CLIP-seq
MIRT2203302	hsa-miR-4633-3p	CLIP-seq
MIRT2386329	hsa-miR-4657	CLIP-seq
MIRT2386330	hsa-miR-4800-5p	CLIP-seq
MIRT901996	hsa-miR-890	CLIP-seq
MIRT2506168	hsa-miR-1183	CLIP-seq
MIRT2506169	hsa-miR-1229	CLIP-seq
MIRT2506170	hsa-miR-1236	CLIP-seq
MIRT901969	hsa-miR-1237	CLIP-seq
MIRT2506171	hsa-miR-1245	CLIP-seq
MIRT2506172	hsa-miR-125a-3p	CLIP-seq
MIRT2506173	hsa-miR-1267	CLIP-seq
MIRT2506174	hsa-miR-1276	CLIP-seq
MIRT2506175	hsa-miR-1279	CLIP-seq
MIRT2506176	hsa-miR-1285	CLIP-seq
MIRT2506177	hsa-miR-1298	CLIP-seq
MIRT901970	hsa-miR-1299	CLIP-seq
MIRT2506178	hsa-miR-132	CLIP-seq
MIRT2506179	hsa-miR-1343	CLIP-seq
MIRT2506180	hsa-miR-137	CLIP-seq
MIRT2506181	hsa-miR-142-5p	CLIP-seq
MIRT2506182	hsa-miR-148a	CLIP-seq
MIRT2506183	hsa-miR-148b	CLIP-seq
MIRT2506184	hsa-miR-152	CLIP-seq
MIRT2506185	hsa-miR-1825	CLIP-seq
MIRT2203287	hsa-miR-193a-3p	CLIP-seq
MIRT2203288	hsa-miR-193b	CLIP-seq
MIRT2506186	hsa-miR-199a-5p	CLIP-seq
MIRT2506187	hsa-miR-199b-5p	CLIP-seq
MIRT2506188	hsa-miR-202	CLIP-seq
MIRT2506189	hsa-miR-212	CLIP-seq
MIRT2506190	hsa-miR-223	CLIP-seq
MIRT2203289	hsa-miR-3117-5p	CLIP-seq
MIRT2203290	hsa-miR-3124-3p	CLIP-seq
MIRT2203291	hsa-miR-3136-3p	CLIP-seq
MIRT2386326	hsa-miR-3138	CLIP-seq
MIRT2203292	hsa-miR-3160-3p	CLIP-seq
MIRT2506191	hsa-miR-3160-5p	CLIP-seq
MIRT2506192	hsa-miR-3163	CLIP-seq
MIRT2506193	hsa-miR-3187-5p	CLIP-seq
MIRT2506194	hsa-miR-3190	CLIP-seq
MIRT2506195	hsa-miR-3199	CLIP-seq
MIRT2506196	hsa-miR-340	CLIP-seq
MIRT2506197	hsa-miR-3606	CLIP-seq
MIRT2506198	hsa-miR-3647-3p	CLIP-seq
MIRT2506199	hsa-miR-3651	CLIP-seq
MIRT2506200	hsa-miR-3665	CLIP-seq
MIRT2506201	hsa-miR-3668	CLIP-seq
MIRT2506202	hsa-miR-3692	CLIP-seq
MIRT2506203	hsa-miR-383	CLIP-seq
MIRT2203296	hsa-miR-3908	CLIP-seq
MIRT2506204	hsa-miR-3924	CLIP-seq
MIRT2506205	hsa-miR-3925-3p	CLIP-seq
MIRT2506206	hsa-miR-3926	CLIP-seq
MIRT901978	hsa-miR-3929	CLIP-seq
MIRT2203297	hsa-miR-3942-5p	CLIP-seq
MIRT2506207	hsa-miR-411	CLIP-seq
MIRT2506208	hsa-miR-4261	CLIP-seq
MIRT2506209	hsa-miR-4282	CLIP-seq
MIRT2506210	hsa-miR-4311	CLIP-seq
MIRT901981	hsa-miR-4419b	CLIP-seq
MIRT2203300	hsa-miR-4433	CLIP-seq
MIRT2506211	hsa-miR-4436b-3p	CLIP-seq
MIRT2506212	hsa-miR-4436b-5p	CLIP-seq
MIRT2506213	hsa-miR-4477a	CLIP-seq
MIRT901982	hsa-miR-4478	CLIP-seq
MIRT2506214	hsa-miR-4487	CLIP-seq
MIRT2506215	hsa-miR-4494	CLIP-seq
MIRT2506216	hsa-miR-4496	CLIP-seq
MIRT2506217	hsa-miR-4499	CLIP-seq
MIRT2506218	hsa-miR-4515	CLIP-seq
MIRT2506219	hsa-miR-4522	CLIP-seq
MIRT2506220	hsa-miR-4633-5p	CLIP-seq
MIRT2506221	hsa-miR-4640-5p	CLIP-seq
MIRT2506222	hsa-miR-4645-3p	CLIP-seq
MIRT2506223	hsa-miR-4646-5p	CLIP-seq
MIRT2506224	hsa-miR-4650-5p	CLIP-seq
MIRT2203303	hsa-miR-4653-3p	CLIP-seq
MIRT2506225	hsa-miR-4667-5p	CLIP-seq
MIRT2506226	hsa-miR-4671-5p	CLIP-seq
MIRT2506227	hsa-miR-4693-5p	CLIP-seq
MIRT2506228	hsa-miR-4697-3p	CLIP-seq
MIRT2506229	hsa-miR-4700-5p	CLIP-seq
MIRT2203305	hsa-miR-4703-5p	CLIP-seq
MIRT2506230	hsa-miR-4708-3p	CLIP-seq
MIRT2506231	hsa-miR-4711-5p	CLIP-seq
MIRT2506232	hsa-miR-4718	CLIP-seq
MIRT2506233	hsa-miR-4726-5p	CLIP-seq
MIRT2506234	hsa-miR-4732-5p	CLIP-seq
MIRT2506235	hsa-miR-4736	CLIP-seq
MIRT2506236	hsa-miR-4742-3p	CLIP-seq
MIRT2506237	hsa-miR-4747-5p	CLIP-seq
MIRT2506238	hsa-miR-4764-3p	CLIP-seq
MIRT2203307	hsa-miR-4766-3p	CLIP-seq
MIRT2506239	hsa-miR-4772-5p	CLIP-seq
MIRT901989	hsa-miR-4782-5p	CLIP-seq
MIRT2386330	hsa-miR-4800-5p	CLIP-seq
MIRT2506240	hsa-miR-508-5p	CLIP-seq
MIRT2506241	hsa-miR-513a-5p	CLIP-seq
MIRT901991	hsa-miR-516b	CLIP-seq
MIRT2506242	hsa-miR-532-5p	CLIP-seq
MIRT2506243	hsa-miR-548ac	CLIP-seq
MIRT2506244	hsa-miR-548ae	CLIP-seq
MIRT2506245	hsa-miR-548aj	CLIP-seq
MIRT2506246	hsa-miR-548am	CLIP-seq
MIRT2506247	hsa-miR-548d-3p	CLIP-seq
MIRT2506248	hsa-miR-548s	CLIP-seq
MIRT2506249	hsa-miR-548u	CLIP-seq
MIRT2506250	hsa-miR-548x	CLIP-seq
MIRT2506251	hsa-miR-548z	CLIP-seq
MIRT2506252	hsa-miR-558	CLIP-seq
MIRT2506253	hsa-miR-583	CLIP-seq
MIRT1967553	hsa-miR-592	CLIP-seq
MIRT1967554	hsa-miR-597	CLIP-seq
MIRT2506254	hsa-miR-612	CLIP-seq
MIRT2506255	hsa-miR-637	CLIP-seq
MIRT2506256	hsa-miR-661	CLIP-seq
MIRT2506257	hsa-miR-7	CLIP-seq
MIRT1967555	hsa-miR-892a	CLIP-seq
MIRT2506168	hsa-miR-1183	CLIP-seq
MIRT2506169	hsa-miR-1229	CLIP-seq
MIRT2506170	hsa-miR-1236	CLIP-seq
MIRT2506171	hsa-miR-1245	CLIP-seq
MIRT2506172	hsa-miR-125a-3p	CLIP-seq
MIRT2506173	hsa-miR-1267	CLIP-seq
MIRT2506174	hsa-miR-1276	CLIP-seq
MIRT2506175	hsa-miR-1279	CLIP-seq
MIRT2506176	hsa-miR-1285	CLIP-seq
MIRT2506177	hsa-miR-1298	CLIP-seq
MIRT2506178	hsa-miR-132	CLIP-seq
MIRT2506179	hsa-miR-1343	CLIP-seq
MIRT2506180	hsa-miR-137	CLIP-seq
MIRT2506182	hsa-miR-148a	CLIP-seq
MIRT2506183	hsa-miR-148b	CLIP-seq
MIRT2506184	hsa-miR-152	CLIP-seq
MIRT2506185	hsa-miR-1825	CLIP-seq
MIRT2203287	hsa-miR-193a-3p	CLIP-seq
MIRT2203288	hsa-miR-193b	CLIP-seq
MIRT2506186	hsa-miR-199a-5p	CLIP-seq
MIRT2506187	hsa-miR-199b-5p	CLIP-seq
MIRT2506189	hsa-miR-212	CLIP-seq
MIRT2203289	hsa-miR-3117-5p	CLIP-seq
MIRT2203291	hsa-miR-3136-3p	CLIP-seq
MIRT2386326	hsa-miR-3138	CLIP-seq
MIRT2203292	hsa-miR-3160-3p	CLIP-seq
MIRT2506191	hsa-miR-3160-5p	CLIP-seq
MIRT2506192	hsa-miR-3163	CLIP-seq
MIRT2506193	hsa-miR-3187-5p	CLIP-seq
MIRT2506194	hsa-miR-3190	CLIP-seq
MIRT2506195	hsa-miR-3199	CLIP-seq
MIRT2506197	hsa-miR-3606	CLIP-seq
MIRT2506198	hsa-miR-3647-3p	CLIP-seq
MIRT2506199	hsa-miR-3651	CLIP-seq
MIRT2506200	hsa-miR-3665	CLIP-seq
MIRT2506201	hsa-miR-3668	CLIP-seq
MIRT2506202	hsa-miR-3692	CLIP-seq
MIRT2506203	hsa-miR-383	CLIP-seq
MIRT2203296	hsa-miR-3908	CLIP-seq
MIRT2506204	hsa-miR-3924	CLIP-seq
MIRT2506205	hsa-miR-3925-3p	CLIP-seq
MIRT2506206	hsa-miR-3926	CLIP-seq
MIRT2203297	hsa-miR-3942-5p	CLIP-seq
MIRT2506207	hsa-miR-411	CLIP-seq
MIRT2506208	hsa-miR-4261	CLIP-seq
MIRT2506209	hsa-miR-4282	CLIP-seq
MIRT2506210	hsa-miR-4311	CLIP-seq
MIRT2203300	hsa-miR-4433	CLIP-seq
MIRT2506211	hsa-miR-4436b-3p	CLIP-seq
MIRT2506212	hsa-miR-4436b-5p	CLIP-seq
MIRT2506213	hsa-miR-4477a	CLIP-seq
MIRT2506214	hsa-miR-4487	CLIP-seq
MIRT2506215	hsa-miR-4494	CLIP-seq
MIRT2506216	hsa-miR-4496	CLIP-seq
MIRT2506217	hsa-miR-4499	CLIP-seq
MIRT2506218	hsa-miR-4515	CLIP-seq
MIRT2506219	hsa-miR-4522	CLIP-seq
MIRT2506220	hsa-miR-4633-5p	CLIP-seq
MIRT2506221	hsa-miR-4640-5p	CLIP-seq
MIRT2506222	hsa-miR-4645-3p	CLIP-seq
MIRT2506223	hsa-miR-4646-5p	CLIP-seq
MIRT2506224	hsa-miR-4650-5p	CLIP-seq
MIRT2203303	hsa-miR-4653-3p	CLIP-seq
MIRT2506225	hsa-miR-4667-5p	CLIP-seq
MIRT2506226	hsa-miR-4671-5p	CLIP-seq
MIRT2506227	hsa-miR-4693-5p	CLIP-seq
MIRT2506229	hsa-miR-4700-5p	CLIP-seq
MIRT2203305	hsa-miR-4703-5p	CLIP-seq
MIRT2506230	hsa-miR-4708-3p	CLIP-seq
MIRT2506231	hsa-miR-4711-5p	CLIP-seq
MIRT2506232	hsa-miR-4718	CLIP-seq
MIRT2506233	hsa-miR-4726-5p	CLIP-seq
MIRT2506234	hsa-miR-4732-5p	CLIP-seq
MIRT2506235	hsa-miR-4736	CLIP-seq
MIRT2506236	hsa-miR-4742-3p	CLIP-seq
MIRT2506237	hsa-miR-4747-5p	CLIP-seq
MIRT2506238	hsa-miR-4764-3p	CLIP-seq
MIRT2203307	hsa-miR-4766-3p	CLIP-seq
MIRT2506239	hsa-miR-4772-5p	CLIP-seq
MIRT2386330	hsa-miR-4800-5p	CLIP-seq
MIRT2506240	hsa-miR-508-5p	CLIP-seq
MIRT2506241	hsa-miR-513a-5p	CLIP-seq
MIRT2506242	hsa-miR-532-5p	CLIP-seq
MIRT2506243	hsa-miR-548ac	CLIP-seq
MIRT2506244	hsa-miR-548ae	CLIP-seq
MIRT2506245	hsa-miR-548aj	CLIP-seq
MIRT2506246	hsa-miR-548am	CLIP-seq
MIRT2506247	hsa-miR-548d-3p	CLIP-seq
MIRT2506248	hsa-miR-548s	CLIP-seq
MIRT2506250	hsa-miR-548x	CLIP-seq
MIRT2506251	hsa-miR-548z	CLIP-seq
MIRT2506252	hsa-miR-558	CLIP-seq
MIRT2506253	hsa-miR-583	CLIP-seq
MIRT2506254	hsa-miR-612	CLIP-seq
MIRT2506255	hsa-miR-637	CLIP-seq
MIRT2506256	hsa-miR-661	CLIP-seq
MIRT2506257	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002521	Process	Leukocyte differentiation	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IBA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048538	Process	Thymus development	IEA

Other IDs

• MIM: 613920
• HGNC: 33848
• e!Ensembl: ENSG00000183513

Protein

• UniProt ID: Q86WW8
• Protein name: Cytochrome c oxidase assembly factor 5
• Protein function: Involved in an early step of the mitochondrial complex IV assembly process.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10203	Pet191_N	11 → 71	Cytochrome c oxidase assembly protein PET191	Family

• Sequence:

  MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKEGYCNSLKYAFFECKRS
  VLDNRARFRGRKGY

• Sequence length: 74

Pathways

KEGG:

Thermogenesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	Pathogenic	rs387907099	RCV000024082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	ORPHANET_DG	21457908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3	Cardioencephalomyopathy	GENOMICS_ENGLAND_DG	21457908		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3	Cardioencephalomyopathy	UNIPROT_DG	21457908		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3	Cardioencephalomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathies	Cardiomyopathy	BEFREE	21457908		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21457908	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21457908	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	15596615, 21457908		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Fatal infantile cytochrome C oxidase deficiency	Fatal Cytochrome C Oxidase Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21457908		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21457908		★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	21457908		★☆☆☆☆ Found in Text Mining only