SLC25A4 (solute carrier family 25 member 4)

Gene

• Entrez ID: 291
• Gene name: Solute carrier family 25 member 4
• Gene symbol: SLC25A4
• Synonyms (NCBI Gene): AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
• Chromosome: 4
• Chromosome location: 4q35.1
• Summary: This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28999114	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893873	G>C	Pathogenic	Missense variant, coding sequence variant
rs104893874	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893876	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912683	C>A	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs398122942	G>A	Pathogenic	Splice donor variant
rs770816416	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs863224208	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863224209	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041080	AGCATGCCAGCAAACAGATCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041081	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041082	C>G	Pathogenic	Coding sequence variant, missense variant
rs1553967481	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1560841701	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051905	hsa-let-7b-5p	CLASH	23622248
MIRT043491	hsa-miR-331-3p	CLASH	23622248
MIRT040699	hsa-miR-92b-3p	CLASH	23622248
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT615925	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT615924	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615923	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT615922	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT615921	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT615920	hsa-miR-4775	HITS-CLIP	23824327
MIRT615919	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT615918	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT1356995	hsa-miR-124	CLIP-seq
MIRT1356996	hsa-miR-181a	CLIP-seq
MIRT1356997	hsa-miR-181b	CLIP-seq
MIRT1356998	hsa-miR-181c	CLIP-seq
MIRT1356999	hsa-miR-181d	CLIP-seq
MIRT1357000	hsa-miR-23a	CLIP-seq
MIRT1357001	hsa-miR-23b	CLIP-seq
MIRT1357002	hsa-miR-23c	CLIP-seq
MIRT1357003	hsa-miR-3136-5p	CLIP-seq
MIRT1357004	hsa-miR-33a	CLIP-seq
MIRT1357005	hsa-miR-33b	CLIP-seq
MIRT1357006	hsa-miR-3545-5p	CLIP-seq
MIRT1357007	hsa-miR-3714	CLIP-seq
MIRT1357008	hsa-miR-3910	CLIP-seq
MIRT1357009	hsa-miR-3929	CLIP-seq
MIRT1357010	hsa-miR-3934	CLIP-seq
MIRT1357011	hsa-miR-4262	CLIP-seq
MIRT1357012	hsa-miR-4419b	CLIP-seq
MIRT1357013	hsa-miR-4439	CLIP-seq
MIRT1357014	hsa-miR-4477b	CLIP-seq
MIRT1357015	hsa-miR-4478	CLIP-seq
MIRT1357016	hsa-miR-4513	CLIP-seq
MIRT1357017	hsa-miR-4648	CLIP-seq
MIRT1357018	hsa-miR-4654	CLIP-seq
MIRT1357019	hsa-miR-4713-5p	CLIP-seq
MIRT1357020	hsa-miR-4760-3p	CLIP-seq
MIRT1357021	hsa-miR-4769-5p	CLIP-seq
MIRT1357022	hsa-miR-489	CLIP-seq
MIRT1357023	hsa-miR-506	CLIP-seq
MIRT1357024	hsa-miR-5095	CLIP-seq
MIRT1357025	hsa-miR-5096	CLIP-seq
MIRT1357026	hsa-miR-552	CLIP-seq
MIRT1357027	hsa-miR-604	CLIP-seq
MIRT1357028	hsa-miR-628-5p	CLIP-seq
MIRT1357029	hsa-miR-647	CLIP-seq
MIRT1357030	hsa-miR-933	CLIP-seq
MIRT1357031	hsa-miR-935	CLIP-seq
MIRT1357032	hsa-miR-944	CLIP-seq
MIRT2105746	hsa-miR-1297	CLIP-seq
MIRT2105747	hsa-miR-26a	CLIP-seq
MIRT2105748	hsa-miR-26b	CLIP-seq
MIRT2105749	hsa-miR-342-5p	CLIP-seq
MIRT2105750	hsa-miR-3615	CLIP-seq
MIRT2105751	hsa-miR-3682-5p	CLIP-seq
MIRT1357010	hsa-miR-3934	CLIP-seq
MIRT2105752	hsa-miR-432	CLIP-seq
MIRT2105753	hsa-miR-4465	CLIP-seq
MIRT2105754	hsa-miR-4502	CLIP-seq
MIRT2105755	hsa-miR-4535	CLIP-seq
MIRT2105756	hsa-miR-4651	CLIP-seq
MIRT2105757	hsa-miR-4664-5p	CLIP-seq
MIRT2105758	hsa-miR-4762-3p	CLIP-seq
MIRT2105759	hsa-miR-4772-3p	CLIP-seq
MIRT2105760	hsa-miR-4776-5p	CLIP-seq
MIRT2105761	hsa-miR-492	CLIP-seq
MIRT1357026	hsa-miR-552	CLIP-seq
MIRT2105762	hsa-miR-608	CLIP-seq
MIRT1357031	hsa-miR-935	CLIP-seq
MIRT1357032	hsa-miR-944	CLIP-seq
MIRT2330208	hsa-let-7a	CLIP-seq
MIRT2330209	hsa-let-7b	CLIP-seq
MIRT2330210	hsa-let-7c	CLIP-seq
MIRT2330211	hsa-let-7d	CLIP-seq
MIRT2330212	hsa-let-7e	CLIP-seq
MIRT2330213	hsa-let-7f	CLIP-seq
MIRT2330214	hsa-let-7g	CLIP-seq
MIRT2330215	hsa-let-7i	CLIP-seq
MIRT2330216	hsa-miR-1200	CLIP-seq
MIRT2330217	hsa-miR-1208	CLIP-seq
MIRT2330218	hsa-miR-1236	CLIP-seq
MIRT1356995	hsa-miR-124	CLIP-seq
MIRT2330219	hsa-miR-1244	CLIP-seq
MIRT2330220	hsa-miR-202	CLIP-seq
MIRT2330221	hsa-miR-204	CLIP-seq
MIRT2330222	hsa-miR-211	CLIP-seq
MIRT2330223	hsa-miR-3170	CLIP-seq
MIRT2330224	hsa-miR-3182	CLIP-seq
MIRT1357004	hsa-miR-33a	CLIP-seq
MIRT1357005	hsa-miR-33b	CLIP-seq
MIRT2330225	hsa-miR-3607-3p	CLIP-seq
MIRT2330226	hsa-miR-3657	CLIP-seq
MIRT2330227	hsa-miR-3672	CLIP-seq
MIRT1357007	hsa-miR-3714	CLIP-seq
MIRT1357008	hsa-miR-3910	CLIP-seq
MIRT2330228	hsa-miR-3935	CLIP-seq
MIRT2330229	hsa-miR-4259	CLIP-seq
MIRT2330230	hsa-miR-4289	CLIP-seq
MIRT2330231	hsa-miR-4303	CLIP-seq
MIRT2330232	hsa-miR-4324	CLIP-seq
MIRT2330233	hsa-miR-4325	CLIP-seq
MIRT2330234	hsa-miR-4420	CLIP-seq
MIRT2330235	hsa-miR-4425	CLIP-seq
MIRT2330236	hsa-miR-4446-5p	CLIP-seq
MIRT2330237	hsa-miR-4458	CLIP-seq
MIRT1357014	hsa-miR-4477b	CLIP-seq
MIRT2330238	hsa-miR-4500	CLIP-seq
MIRT2105754	hsa-miR-4502	CLIP-seq
MIRT2330239	hsa-miR-450b-3p	CLIP-seq
MIRT2330240	hsa-miR-4639-3p	CLIP-seq
MIRT2330241	hsa-miR-4649-3p	CLIP-seq
MIRT2330242	hsa-miR-4669	CLIP-seq
MIRT2330243	hsa-miR-4677-3p	CLIP-seq
MIRT2330244	hsa-miR-4678	CLIP-seq
MIRT2330245	hsa-miR-4679	CLIP-seq
MIRT2330246	hsa-miR-4698	CLIP-seq
MIRT2330247	hsa-miR-4703-3p	CLIP-seq
MIRT2330248	hsa-miR-4715-5p	CLIP-seq
MIRT2330249	hsa-miR-4755-5p	CLIP-seq
MIRT1357023	hsa-miR-506	CLIP-seq
MIRT1357024	hsa-miR-5095	CLIP-seq
MIRT2330250	hsa-miR-544b	CLIP-seq
MIRT2330251	hsa-miR-581	CLIP-seq
MIRT2330252	hsa-miR-592	CLIP-seq
MIRT2330253	hsa-miR-599	CLIP-seq
MIRT2330254	hsa-miR-623	CLIP-seq
MIRT2330255	hsa-miR-720	CLIP-seq
MIRT2330256	hsa-miR-769-3p	CLIP-seq
MIRT1357031	hsa-miR-935	CLIP-seq
MIRT2330257	hsa-miR-98	CLIP-seq
MIRT2394681	hsa-miR-2467-3p	CLIP-seq
MIRT2394682	hsa-miR-3123	CLIP-seq
MIRT2394683	hsa-miR-3668	CLIP-seq
MIRT2394684	hsa-miR-3678-3p	CLIP-seq
MIRT2394685	hsa-miR-3919	CLIP-seq
MIRT2330228	hsa-miR-3935	CLIP-seq
MIRT2105752	hsa-miR-432	CLIP-seq
MIRT2105755	hsa-miR-4535	CLIP-seq
MIRT2394686	hsa-miR-4717-3p	CLIP-seq
MIRT2105760	hsa-miR-4776-5p	CLIP-seq
MIRT2105761	hsa-miR-492	CLIP-seq
MIRT2394687	hsa-miR-577	CLIP-seq
MIRT2394688	hsa-miR-597	CLIP-seq
MIRT1357031	hsa-miR-935	CLIP-seq
MIRT1357031	hsa-miR-935	CLIP-seq
MIRT2330217	hsa-miR-1208	CLIP-seq
MIRT2330225	hsa-miR-3607-3p	CLIP-seq
MIRT2330234	hsa-miR-4420	CLIP-seq
MIRT2330243	hsa-miR-4677-3p	CLIP-seq
MIRT2330245	hsa-miR-4679	CLIP-seq
MIRT2624277	hsa-miR-129-5p	CLIP-seq
MIRT2105746	hsa-miR-1297	CLIP-seq
MIRT2105747	hsa-miR-26a	CLIP-seq
MIRT2105748	hsa-miR-26b	CLIP-seq
MIRT2624278	hsa-miR-3149	CLIP-seq
MIRT2105750	hsa-miR-3615	CLIP-seq
MIRT1357010	hsa-miR-3934	CLIP-seq
MIRT2105753	hsa-miR-4465	CLIP-seq
MIRT2624279	hsa-miR-4735-5p	CLIP-seq
MIRT1357024	hsa-miR-5095	CLIP-seq
MIRT1357026	hsa-miR-552	CLIP-seq
MIRT1357030	hsa-miR-933	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005471	Function	ATP:ADP antiporter activity	IDA	21586654
GO:0005471	Function	ATP:ADP antiporter activity	IEA
GO:0005515	Function	Protein binding	IPI	16507998, 21370995, 24316735, 24725412, 31883789, 33961781
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10926541
GO:0005743	Component	Mitochondrial inner membrane	IDA	21586654
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005757	Component	Mitochondrial permeability transition pore complex	IEA
GO:0005757	Component	Mitochondrial permeability transition pore complex	ISS
GO:0005886	Component	Plasma membrane	TAS	2823266
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2823266
GO:0008637	Process	Apoptotic mitochondrial changes	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015078	Function	Proton transmembrane transporter activity	TAS
GO:0015207	Function	Adenine transmembrane transporter activity	TAS	2823266
GO:0015297	Function	Antiporter activity	IEA
GO:0015853	Process	Adenine transport	IEA
GO:0015866	Process	ADP transport	IMP	27693233
GO:0016020	Component	Membrane	IDA	27641616
GO:0016020	Component	Membrane	IEA
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IEA
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	ISS
GO:0031966	Component	Mitochondrial membrane	ISS
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IEA
GO:0046902	Process	Regulation of mitochondrial membrane permeability	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060546	Process	Negative regulation of necroptotic process	IMP	16507998
GO:0140021	Process	Mitochondrial ADP transmembrane transport	IDA	21586654
GO:0140021	Process	Mitochondrial ADP transmembrane transport	IEA
GO:1901029	Process	Negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IBA
GO:1901526	Process	Positive regulation of mitophagy	IEA
GO:1901526	Process	Positive regulation of mitophagy	ISS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1990544	Process	Mitochondrial ATP transmembrane transport	IDA	21586654
GO:1990544	Process	Mitochondrial ATP transmembrane transport	IEA
GO:1990845	Process	Adaptive thermogenesis	IEA
GO:1990845	Process	Adaptive thermogenesis	ISS
GO:1990845	Process	Adaptive thermogenesis	TAS

Other IDs

• MIM: 103220
• HGNC: 10990
• e!Ensembl: ENSG00000151729

Protein

• UniProt ID: P12235
• Protein name: ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4)
• Protein function: ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233). Cycles between the cytoplasmic-open state (c-state) and the matrix-open st
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	4 → 103	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	109 → 206	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	204 → 298	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:27641616}.
• Sequence:

  MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVR
  IPKEQGFLSFWRGNLANVIRYFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASG
  GAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDCIIKIFKSDGLRGLYQGFNVS
  VQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
  QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV

• Sequence length: 298

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
Necroptosis
Cellular senescence
Neutrophil extracellular trap formation
Alzheimer disease
Parkinson disease
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Influenza A
Human T-cell leukemia virus 1 infection
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Mitochondrial protein import
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of mitochondrial metabolism	Likely pathogenic; Pathogenic	rs121912683	RCV000626769
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs121912683	RCV000626769
Inborn mitochondrial myopathy	Likely pathogenic; Pathogenic	rs121912683	RCV000626769
Left ventricular hypertrophy	Likely pathogenic; Pathogenic	rs121912683	RCV000626768
Mitochondrial disease	Pathogenic	rs886041081, rs886041082	RCV000491010 RCV000491457
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Pathogenic; Likely pathogenic	rs886041081, rs886041082, rs1560841701	RCV000258873 RCV000258874 RCV000785891
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Pathogenic; Likely pathogenic	rs863224209, rs886041080, rs770816416, rs121912683, rs398122942	RCV003323449 RCV000258875 RCV000258878 RCV000019911 RCV000056253
Mitochondrial respiratory chain defects	Likely pathogenic; Pathogenic	rs121912683	RCV000626769
Myopia	Likely pathogenic; Pathogenic	rs121912683	RCV000626767
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Pathogenic; Likely pathogenic	rs863224209, rs104893873, rs104893874, rs104893876, rs28999114, rs121912683	RCV004783762 RCV000019907 RCV000019908 RCV000019909 RCV000019910 RCV001198599
Progressive sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs121912683	RCV000626767
SLC25A4-related disorder	Pathogenic	rs863224209	RCV004757165
Vertigo	Likely pathogenic; Pathogenic	rs121912683	RCV000626767

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign; Benign	rs111947439, rs183128370	RCV005919373 RCV005897798
Familial cancer of breast	Benign	rs183128370	RCV005897797
Family history of sudden cardiac death	Uncertain significance	rs1160015603	RCV000852559
Lung cancer	Likely benign	rs111947439	RCV005919375
Progressive external ophthalmoplegia with mitochondrial DNA deletions	Likely benign; Benign; Uncertain significance	rs375487895, rs112970805, rs542820181, rs3733651, rs139462979, rs551018560, rs374044101, rs886059273	RCV000395154 RCV000351763 RCV000404200 RCV000385218 RCV000312251 RCV000306551 RCV000372043 RCV000344011
Restrictive cardiomyopathy	Uncertain significance	rs755597294	RCV000852560
Sarcoma	Likely benign	rs111947439	RCV005919374
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs183128370, rs1553967623	RCV005897799 RCV005901180

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmias Cardiac	Associate	36030628
Atherosclerosis	Associate	40053030
Atrophy	Associate	35477912
Carcinoma Renal Cell	Associate	32461965
Cardiomyopathies	Associate	18809618, 23401503, 27693233, 30165862
Cardiomyopathy Dilated	Associate	16107323
Cognition Disorders	Associate	28690391
Colonic Neoplasms	Inhibit	36254139
Congenital Abnormalities	Associate	19687137
Death	Associate	19687137
Dementia	Associate	28690391
Diabetes Mellitus Type 2	Associate	36360309
Fatigue	Associate	23047795
Glioblastoma	Associate	20528917
Hemorrhage	Associate	40053030
Hydranencephaly	Associate	35477912
Insulin Resistance	Associate	24884163
Kearns Sayre Syndrome	Associate	35477912
Kearns Sayre Syndrome	Inhibit	8505336
Kidney Neoplasms	Associate	33396658
MELAS Syndrome	Associate	8505336
MERRF Syndrome	Stimulate	8505336
Mitochondrial Diseases	Associate	18809618, 20528917, 27693233, 33923309
Mitochondrial Myopathies	Associate	18809618, 27693233
Muscular Diseases	Associate	23401503
Muscular Dystrophy Facioscapulohumeral	Associate	18852887, 19809486, 19888305, 36030628
Myopathy with Giant Abnormal Mitochondria	Associate	27861892, 28317877, 36030628
Neurodegenerative Diseases	Associate	33923309
Ophthalmoplegia Chronic Progressive External	Associate	18195150, 19687137, 21301859, 37316776
Parkinson Disease Secondary	Associate	21301859
Pontocerebellar Hypoplasia Type 3	Associate	35477912
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Dominant 1	Associate	18809618, 19772189, 27693233, 28690391
Prostatic Neoplasms	Associate	23047795
Sleep Deprivation	Associate	36030628
Stomach Diseases	Associate	36356476
Stomach Neoplasms	Associate	31322220
Stomach Neoplasms	Inhibit	36254139
Stomach Neoplasms	Stimulate	36356476
Ventricular Dysfunction	Associate	37957180
Visceral myopathy familial external ophthalmoplegia	Associate	19667227, 39277702