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

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
Abnormality of mitochondrial metabolism	Likely pathogenic; Pathogenic	rs121912683	RCV000626769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs121912683	RCV000626769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inborn mitochondrial myopathy	Likely pathogenic; Pathogenic	rs121912683	RCV000626769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular hypertrophy	Likely pathogenic; Pathogenic	rs121912683	RCV000626768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Pathogenic	rs886041081, rs886041082	RCV000491010 RCV000491457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Pathogenic; Likely pathogenic	rs886041081, rs886041082, rs1560841701	RCV000258873 RCV000258874 RCV000785891	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	Pathogenic; Likely pathogenic	rs863224209, rs886041080, rs770816416, rs121912683, rs398122942	RCV003323449 RCV000258875 RCV000258878 RCV000019911 RCV000056253	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial respiratory chain defects	Likely pathogenic; Pathogenic	rs121912683	RCV000626769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Likely pathogenic; Pathogenic	rs121912683	RCV000626767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs121912683	RCV000626767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC25A4-related disorder	Pathogenic	rs863224209	RCV004757165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertigo	Likely pathogenic; Pathogenic	rs121912683	RCV000626767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1H	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT AND CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Family history of sudden cardiac death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A , AUTOSOMAL DOMINANT	—	CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B , AUTOSOMAL RECESSIVE	—	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DYSFUNCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive external ophthalmoplegia with mitochondrial DNA deletions	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENGERS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	30778280		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	36030628	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	40053030	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35477912	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant progressive external ophthalmoplegia	External ophthalmoplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	12565915, 22980403, 29892051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	12565915, 22980403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	29916066		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22524830		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32461965	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	18809618, 22187496, 23401503, 27693233, 30174309		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	18809618, 23401503, 27693233, 30165862	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	16107323	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16107323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16107323		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract and cardiomyopathy	Sengers syndrome	BEFREE	12112053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	ORPHANET_DG	22187496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	11735376, 12094562, 12210391, 12707443, 12975295, 14557557, 15792871, 16682683, 17420318, 18065439, 18195150, 19687137, 21301859, 27693233, 29892051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	LHGDN	12140186, 15792871, 18575922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	28690391	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36254139	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	19687137	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28690391	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12013805, 28223503		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12013805, 28223503		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36360309	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	18945756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	27693233		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20528917	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	40053030	Associate	★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	35477912	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG	27532257, 27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	30970205		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24884163	Associate	★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	8505336		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11579427		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33396658	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	12565915		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22980403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22524830		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18522758		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	8505336		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	8505336	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	8505336		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	8505336	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28223503		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	10926541, 16203679, 27693233, 30311946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18809618, 20528917, 27693233, 33923309	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA Depletion Syndrome 12	Mitochondrial DNA Deletion Syndrome	CLINGEN_DG	10974536, 15647764, 16155110, 21232697, 22187496, 23401503, 2547778, 25732997, 8479824, 9207786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	GENOMICS_ENGLAND_DG	27532257, 27693233		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	UNIPROT_DG	27693233		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	UNIPROT_DG	16155110, 22187496, 25732997, 27693233		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	GENOMICS_ENGLAND_DG	27532257, 27604308, 27693233		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	18809618, 27693233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	18809618, 27693233	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	GENOMICS_ENGLAND_DG	25732997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	12565915		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28225155		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	18852887, 19809486, 19888305, 36030628	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	LHGDN	15551024		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	16203679, 8100217, 8103757		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22187496, 25833713, 8100217		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	18522758, 22056254, 31129499		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33923309	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28043006		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	18195150, 19687137, 21301859, 37316776	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	21301859	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	21301859		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 3	Pontocerebellar hypoplasia	Pubtator	35477912	Associate	★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	ORPHANET_DG	10926541, 21519523		★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	UNIPROT_DG	10926541, 11756613, 12112115, 12707443, 15792871, 18575922, 27693233		★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	GENOMICS_ENGLAND_DG	27532257, 27604308, 27693233		★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23047795	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	20504995		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30833507		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	36030628	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	29916066		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	36356476	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31322220	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36254139	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36356476	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12112053		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	37957180	Associate	★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	19667227, 39277702	Associate	★☆☆☆☆ Found in Text Mining only