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	51204
Gene name	Translational activator of cytochrome c oxidase I
Gene symbol	TACO1
Synonyms (NCBI Gene)	CCDC44MC4DN8
Chromosome	17
Chromosome location	17q23.3
Summary	This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs182355403	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776513	->C	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs759254294	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793277	T>C	Likely-pathogenic	Coding sequence variant, missense variant

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031464	hsa-miR-16-5p	Proteomics	18668040
MIRT040101	hsa-miR-615-3p	CLASH	23622248
MIRT696278	hsa-miR-4426	HITS-CLIP	23313552
MIRT696277	hsa-miR-4647	HITS-CLIP	23313552
MIRT696276	hsa-miR-4662b	HITS-CLIP	23313552
MIRT696275	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696274	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696273	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696272	hsa-miR-184	HITS-CLIP	23313552
MIRT696271	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696270	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696268	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696269	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696267	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696266	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696265	hsa-miR-7977	HITS-CLIP	23313552
MIRT696264	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696263	hsa-miR-4804-5p	HITS-CLIP	23313552
MIRT696262	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696261	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696260	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696259	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696258	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696257	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696256	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696255	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696254	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696253	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696252	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696251	hsa-miR-3122	HITS-CLIP	23313552
MIRT696250	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696249	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696248	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT652851	hsa-miR-4432	HITS-CLIP	23824327
MIRT652850	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT652849	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT652848	hsa-miR-4418	HITS-CLIP	23824327
MIRT652847	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT652846	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT652845	hsa-miR-217	HITS-CLIP	23824327
MIRT652844	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT652843	hsa-miR-451b	HITS-CLIP	23824327
MIRT652842	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT652841	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT652840	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT652839	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT652838	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT652837	hsa-miR-4522	HITS-CLIP	23824327
MIRT652836	hsa-miR-4696	HITS-CLIP	23824327
MIRT652835	hsa-miR-661	HITS-CLIP	23824327
MIRT652834	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT652833	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT652832	hsa-miR-6508-3p	HITS-CLIP	23824327
MIRT652831	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT652830	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT652829	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT652828	hsa-miR-7703	HITS-CLIP	23824327
MIRT652827	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT652826	hsa-miR-6510-3p	HITS-CLIP	23824327
MIRT440991	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440991	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT696259	hsa-miR-1273h-5p	PAR-CLIP	27292025
MIRT696270	hsa-miR-149-3p	PAR-CLIP	27292025
MIRT696258	hsa-miR-30b-3p	PAR-CLIP	27292025
MIRT696257	hsa-miR-3689a-3p	PAR-CLIP	27292025
MIRT696256	hsa-miR-3689b-3p	PAR-CLIP	27292025
MIRT696255	hsa-miR-3689c	PAR-CLIP	27292025
MIRT696268	hsa-miR-4728-5p	PAR-CLIP	27292025
MIRT696254	hsa-miR-6779-5p	PAR-CLIP	27292025
MIRT696253	hsa-miR-6780a-5p	PAR-CLIP	27292025
MIRT696269	hsa-miR-6785-5p	PAR-CLIP	27292025
MIRT696266	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT696267	hsa-miR-6883-5p	PAR-CLIP	27292025
MIRT696271	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT696278	hsa-miR-4426	HITS-CLIP	23313552
MIRT696277	hsa-miR-4647	HITS-CLIP	23313552
MIRT696276	hsa-miR-4662b	HITS-CLIP	23313552
MIRT696275	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696274	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696273	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696272	hsa-miR-184	HITS-CLIP	23313552
MIRT696271	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696270	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696268	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696269	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696267	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696266	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696265	hsa-miR-7977	HITS-CLIP	23313552
MIRT696264	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696263	hsa-miR-4804-5p	HITS-CLIP	23313552
MIRT696262	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696261	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696260	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696259	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696258	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696257	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696256	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696255	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696254	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696253	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696252	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696251	hsa-miR-3122	HITS-CLIP	23313552
MIRT696250	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696249	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696248	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT652851	hsa-miR-4432	HITS-CLIP	23824327
MIRT652850	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT652849	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT652848	hsa-miR-4418	HITS-CLIP	23824327
MIRT652847	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT652846	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT652845	hsa-miR-217	HITS-CLIP	23824327
MIRT652844	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT652843	hsa-miR-451b	HITS-CLIP	23824327
MIRT652842	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT652841	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT652840	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT652839	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT652838	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT652837	hsa-miR-4522	HITS-CLIP	23824327
MIRT652836	hsa-miR-4696	HITS-CLIP	23824327
MIRT652835	hsa-miR-661	HITS-CLIP	23824327
MIRT652834	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT652833	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT652832	hsa-miR-6508-3p	HITS-CLIP	23824327
MIRT652831	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT652830	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT652829	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT652828	hsa-miR-7703	HITS-CLIP	23824327
MIRT652827	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT652826	hsa-miR-6510-3p	HITS-CLIP	23824327
MIRT1408469	hsa-miR-1224-3p	CLIP-seq
MIRT1408470	hsa-miR-1260	CLIP-seq
MIRT1408471	hsa-miR-1260b	CLIP-seq
MIRT1408472	hsa-miR-1280	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT1408474	hsa-miR-3176	CLIP-seq
MIRT1408475	hsa-miR-34b	CLIP-seq
MIRT1408476	hsa-miR-370	CLIP-seq
MIRT1408477	hsa-miR-3922-3p	CLIP-seq
MIRT1408478	hsa-miR-4477a	CLIP-seq
MIRT1408479	hsa-miR-4663	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT1408482	hsa-miR-4795-3p	CLIP-seq
MIRT1408483	hsa-miR-532-3p	CLIP-seq
MIRT2122542	hsa-miR-1252	CLIP-seq
MIRT2122543	hsa-miR-3064-3p	CLIP-seq
MIRT2122544	hsa-miR-3914	CLIP-seq
MIRT2122545	hsa-miR-4293	CLIP-seq
MIRT2122546	hsa-miR-4476	CLIP-seq
MIRT2122547	hsa-miR-4532	CLIP-seq
MIRT2122548	hsa-miR-4533	CLIP-seq
MIRT2122549	hsa-miR-596	CLIP-seq
MIRT2122542	hsa-miR-1252	CLIP-seq
MIRT2344956	hsa-miR-1266	CLIP-seq
MIRT2344957	hsa-miR-2278	CLIP-seq
MIRT2122543	hsa-miR-3064-3p	CLIP-seq
MIRT2344958	hsa-miR-3127-5p	CLIP-seq
MIRT2344959	hsa-miR-325	CLIP-seq
MIRT2344960	hsa-miR-339-3p	CLIP-seq
MIRT1408475	hsa-miR-34b	CLIP-seq
MIRT2122544	hsa-miR-3914	CLIP-seq
MIRT2344961	hsa-miR-3918	CLIP-seq
MIRT2122546	hsa-miR-4476	CLIP-seq
MIRT1408478	hsa-miR-4477a	CLIP-seq
MIRT2344962	hsa-miR-4518	CLIP-seq
MIRT2122547	hsa-miR-4532	CLIP-seq
MIRT2122548	hsa-miR-4533	CLIP-seq
MIRT1408482	hsa-miR-4795-3p	CLIP-seq
MIRT2344963	hsa-miR-4797-5p	CLIP-seq
MIRT2344964	hsa-miR-628-3p	CLIP-seq
MIRT2638099	hsa-miR-2861	CLIP-seq
MIRT2638100	hsa-miR-3121-5p	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT1408474	hsa-miR-3176	CLIP-seq
MIRT2638101	hsa-miR-3189-3p	CLIP-seq
MIRT1408476	hsa-miR-370	CLIP-seq
MIRT1408477	hsa-miR-3922-3p	CLIP-seq
MIRT2638102	hsa-miR-4421	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT2638103	hsa-miR-4761-5p	CLIP-seq
MIRT2638104	hsa-miR-635	CLIP-seq
MIRT2638100	hsa-miR-3121-5p	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT2638101	hsa-miR-3189-3p	CLIP-seq
MIRT2638102	hsa-miR-4421	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT2638103	hsa-miR-4761-5p	CLIP-seq
MIRT2638104	hsa-miR-635	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IEA
GO:0061743	Process	Motor learning	IEA
GO:0070129	Process	Regulation of mitochondrial translation	IEA
GO:0097177	Function	Mitochondrial ribosome binding	IEA

MIM	HGNC	e!Ensembl
612958	24316	ENSG00000136463

Q9BSH4

Protein name

Translational activator of cytochrome c oxidase 1 (Coiled-coil domain-containing protein 44) (Translational activator of mitochondrially-encoded cytochrome c oxidase I)

Protein function

Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01709	Transcrip_reg	61 → 296	Transcriptional regulator	Family

Sequence

MSAWAAASLSRAAARCLLARGPGVRAAPPRDPRPSHPEPRGCGAAPGRTLHFTAAVPAGH
NKWSKVRHIKGPKDVERSRIFSKLCLNIRLAVKEGGPNPEHNSNLANILEVCRSKHMPKS
TIETALKMEKSKDTYLLYEGRGPGGSSLLIEALSNSSHKCQADIRHILNKNGGVMAVGAR
HSFDKKGVIVVEVEDREKKAVNLERALEMAIEAGAEDVKETEDEEERNVFKFICDASSLH
QVRKKLDSLGLCSVSCALEFIPNSKVQLAEPDLEQAAHLIQALSNHEDVIHVYDNIE

Sequence length

297

Interactions

View interactions

	Reactome
			TP53 Regulates Metabolic Genes Respiratory electron transport

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	Pathogenic; Likely pathogenic	rs759254294, rs587776513, rs2033870567	RCV001335814 RCV001004917 RCV001198040	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 8	Likely pathogenic; Pathogenic	rs587776513, rs765093638, rs2510878653, rs775291283, rs759254294	RCV001261873 RCV001261889 RCV003150924 RCV003989050 RCV005029569	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	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
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TACO1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

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	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CTD_human_DG	19503089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG	19503089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	20727754, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG	19503089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_DG	19503089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ 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
Leigh Disease	Leigh Syndrome	CTD_human_DG	19503089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	20727754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	32444556	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32444556	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	20727754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	38240888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	19503089, 25044680, 27319982		★★★★★ ★☆☆☆☆ 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
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	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
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TACO1 (translational activator of cytochrome c oxidase I)