SUCLA2 (succinate-CoA ligase ADP-forming subunit beta)

Gene

• Entrez ID: 8803
• Gene name: Succinate-CoA ligase ADP-forming subunit beta
• Gene symbol: SUCLA2
• Synonyms (NCBI Gene): A-BETA, A-SCS, LINC00444, MTDPS5, SCS-betaA
• Chromosome: 13
• Chromosome location: 13q14.2
• Summary: Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimeri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994161	C>T	Pathogenic	Splice donor variant
rs121908537	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908538	G>A	Pathogenic	Missense variant, coding sequence variant
rs141295770	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs142289138	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200124902	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs370898100	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515462	C>T	Pathogenic	Coding sequence variant, missense variant
rs796052045	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1011464708	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555256440	T>A	Pathogenic	Coding sequence variant, missense variant
rs1566091706	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1593477057	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593479845	T>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023320	hsa-miR-122-5p	Microarray	17612493
MIRT023695	hsa-miR-1-3p	Proteomics	18668040
MIRT028494	hsa-miR-30a-5p	Proteomics	18668040
MIRT031701	hsa-miR-16-5p	Proteomics	18668040
MIRT038843	hsa-miR-93-3p	CLASH	23622248
MIRT1402224	hsa-miR-144	CLIP-seq
MIRT1402225	hsa-miR-630	CLIP-seq
MIRT2120524	hsa-miR-1231	CLIP-seq
MIRT2120525	hsa-miR-3607-3p	CLIP-seq
MIRT2120526	hsa-miR-3686	CLIP-seq
MIRT2120527	hsa-miR-4288	CLIP-seq
MIRT2120528	hsa-miR-4775	CLIP-seq
MIRT2120529	hsa-miR-590-3p	CLIP-seq
MIRT2120530	hsa-miR-632	CLIP-seq
MIRT2342658	hsa-miR-3128	CLIP-seq
MIRT2342659	hsa-miR-3149	CLIP-seq
MIRT2342660	hsa-miR-3713	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2342662	hsa-miR-455-3p	CLIP-seq
MIRT2342663	hsa-miR-500a	CLIP-seq
MIRT2342664	hsa-miR-501-5p	CLIP-seq
MIRT2342665	hsa-miR-548g	CLIP-seq
MIRT2342666	hsa-miR-603	CLIP-seq
MIRT2636429	hsa-miR-1183	CLIP-seq
MIRT2120524	hsa-miR-1231	CLIP-seq
MIRT2636430	hsa-miR-127-5p	CLIP-seq
MIRT2636431	hsa-miR-141	CLIP-seq
MIRT2636432	hsa-miR-186	CLIP-seq
MIRT2636433	hsa-miR-200a	CLIP-seq
MIRT2636434	hsa-miR-2467-5p	CLIP-seq
MIRT2636435	hsa-miR-2681	CLIP-seq
MIRT2636436	hsa-miR-3133	CLIP-seq
MIRT2636437	hsa-miR-3188	CLIP-seq
MIRT2636438	hsa-miR-3189-3p	CLIP-seq
MIRT2636439	hsa-miR-320a	CLIP-seq
MIRT2636440	hsa-miR-320b	CLIP-seq
MIRT2636441	hsa-miR-320c	CLIP-seq
MIRT2636442	hsa-miR-320d	CLIP-seq
MIRT2120525	hsa-miR-3607-3p	CLIP-seq
MIRT2636443	hsa-miR-3613-3p	CLIP-seq
MIRT2636444	hsa-miR-3674	CLIP-seq
MIRT2636445	hsa-miR-3685	CLIP-seq
MIRT2120526	hsa-miR-3686	CLIP-seq
MIRT2636446	hsa-miR-384	CLIP-seq
MIRT2636447	hsa-miR-3907	CLIP-seq
MIRT2636448	hsa-miR-3934	CLIP-seq
MIRT2636449	hsa-miR-3975	CLIP-seq
MIRT2120527	hsa-miR-4288	CLIP-seq
MIRT2636450	hsa-miR-4302	CLIP-seq
MIRT2636451	hsa-miR-4429	CLIP-seq
MIRT2636452	hsa-miR-4434	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2636453	hsa-miR-4516	CLIP-seq
MIRT2636454	hsa-miR-4633-5p	CLIP-seq
MIRT2636455	hsa-miR-4699-5p	CLIP-seq
MIRT2636456	hsa-miR-4729	CLIP-seq
MIRT2636457	hsa-miR-4742-3p	CLIP-seq
MIRT2636458	hsa-miR-4744	CLIP-seq
MIRT2120528	hsa-miR-4775	CLIP-seq
MIRT2636459	hsa-miR-485-5p	CLIP-seq
MIRT2636460	hsa-miR-532-5p	CLIP-seq
MIRT2636461	hsa-miR-548p	CLIP-seq
MIRT2636462	hsa-miR-548u	CLIP-seq
MIRT2636463	hsa-miR-552	CLIP-seq
MIRT2636464	hsa-miR-577	CLIP-seq
MIRT2120529	hsa-miR-590-3p	CLIP-seq
MIRT2120530	hsa-miR-632	CLIP-seq
MIRT2636465	hsa-miR-889	CLIP-seq
MIRT2636429	hsa-miR-1183	CLIP-seq
MIRT2636431	hsa-miR-141	CLIP-seq
MIRT2636432	hsa-miR-186	CLIP-seq
MIRT2636433	hsa-miR-200a	CLIP-seq
MIRT2636434	hsa-miR-2467-5p	CLIP-seq
MIRT2636435	hsa-miR-2681	CLIP-seq
MIRT2636436	hsa-miR-3133	CLIP-seq
MIRT2636437	hsa-miR-3188	CLIP-seq
MIRT2636439	hsa-miR-320a	CLIP-seq
MIRT2636440	hsa-miR-320b	CLIP-seq
MIRT2636441	hsa-miR-320c	CLIP-seq
MIRT2636442	hsa-miR-320d	CLIP-seq
MIRT2636443	hsa-miR-3613-3p	CLIP-seq
MIRT2636444	hsa-miR-3674	CLIP-seq
MIRT2636447	hsa-miR-3907	CLIP-seq
MIRT2636449	hsa-miR-3975	CLIP-seq
MIRT2636450	hsa-miR-4302	CLIP-seq
MIRT2636451	hsa-miR-4429	CLIP-seq
MIRT2636452	hsa-miR-4434	CLIP-seq
MIRT2692395	hsa-miR-4463	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2636453	hsa-miR-4516	CLIP-seq
MIRT2636455	hsa-miR-4699-5p	CLIP-seq
MIRT2636456	hsa-miR-4729	CLIP-seq
MIRT2636457	hsa-miR-4742-3p	CLIP-seq
MIRT2636458	hsa-miR-4744	CLIP-seq
MIRT2636459	hsa-miR-485-5p	CLIP-seq
MIRT2636461	hsa-miR-548p	CLIP-seq
MIRT2636462	hsa-miR-548u	CLIP-seq
MIRT2636464	hsa-miR-577	CLIP-seq
MIRT2636465	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IBA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IEA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	TAS	10727444
GO:0005515	Function	Protein binding	IPI	10727444, 14643893, 26871637, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10727444
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32627745
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	32627745
GO:0006104	Process	Succinyl-CoA metabolic process	IBA
GO:0006104	Process	Succinyl-CoA metabolic process	IEA
GO:0006104	Process	Succinyl-CoA metabolic process	TAS	9765291
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006781	Process	Succinyl-CoA pathway	NAS	10727444
GO:0009361	Component	Succinate-CoA ligase complex (ADP-forming)	NAS	32627745
GO:0016874	Function	Ligase activity	IEA
GO:0042709	Component	Succinate-CoA ligase complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901289	Process	Succinyl-CoA catabolic process	NAS	32627745

Other IDs

• MIM: 603921
• HGNC: 11448
• e!Ensembl: ENSG00000136143

Protein

• UniProt ID: Q9P2R7
• Protein name: Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (EC 6.2.1.5) (ATP-specific succinyl-CoA synthetase subunit beta) (A-SCS) (Succinyl-CoA synthetase beta-A chain) (SCS-betaA)
• Protein function: ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282, PubM
• PDB: 6G4Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08442	ATP-grasp_2	54 → 262	ATP-grasp domain	Domain
  PF00549	Ligase_CoA	321 → 441	CoA-ligase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Not expressed in liver and lung. {ECO:0000269|PubMed:9765291}.
• Sequence:

  MAASMFYGRLVAVATLRNHRPRTAQRAAAQVLGSSGLFNNHGLQVQQQQQRNLSLHEYMS
  MELLQEAGVSVPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVLAGGRGKGTFESGLKGGVK
  IVFSPEEAKAVSSQMIGKKLFTKQTGEKGRICNQVLVCERKYPRREYYFAITMERSFQGP
  VLIGSSHGGVNIEDVAAESPEAIIKEPIDIEEGIKKEQALQLAQKMGFPPNIVESAAENM
  VKLYSLFLKYDATMIEINPMVEDSDGAVLCMDAKINFDSNSAYRQKKIFDLQDWTQEDER
  DKDAAKANLNYIGLDGNIGCLVNGAGLAMATMDIIKLHGGTPANFLDVGGGATVHQVTEA
  FKLITSDKKVLAILVNIFGGIMRCDVIAQGIVMAVKDLEIKIPVVVRLQGTRVDDAKALI
  ADSGLKILACDDLDEAARMVVKLSEIVTLAKQAHVDVKFQLPI

• Sequence length: 463

Pathways

KEGG:

Citrate cycle (TCA cycle)
Propanoate metabolism
Metabolic pathways
Carbon metabolism

Reactome:

Citric acid cycle (TCA cycle)

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
Familial prostate cancer	Likely pathogenic	rs2541668805	RCV005931330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Likely pathogenic; Pathogenic	rs1425790333, rs2137688148, rs2137694642, rs1950124035, rs985896883, rs1309421397, rs2137688022, rs754813556, rs140963290, rs2137715433, rs113994161, rs121908537, rs121908538, rs374479008, rs2541673501, rs2541668805, rs1011464708, rs1593479845, rs1593477057, rs972696428	RCV003771723 RCV001795830 RCV001806397 RCV001955335 RCV001892662 RCV001975069 RCV002226802 RCV002249184 RCV003058413 RCV000006341 RCV000020560 RCV000006343 RCV000006344 RCV003055458 RCV003153087 RCV003518134 RCV000761522 RCV000989104 RCV005860173 RCV001261542	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SUCLA2-related disorder	Likely pathogenic; Pathogenic	rs1011464708	RCV003396328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 5	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21440663, 25109799, 29977803		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	31698022		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27895104		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30067906		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21214928, 21228171, 23133641, 25037285, 26080426, 29518356, 31338753, 31615545		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	7749821		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	7749821		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	23249146, 24828504, 30918495, 31325023, 31827267		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37253003	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33564363	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	24828504, 30918495, 31325023		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	27651038	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	27651038	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26062786, 29353455, 30886573		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27530337		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26863601		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	27651038, 33231368	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27989773, 29981054, 30883351		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28205591		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23276885		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	1832743		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	1832743		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31376172, 31577904		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15485483, 28749033, 28807816		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	27651038, 27913098	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	17301081, 19666145		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23034178, 26475597		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	22740690		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	12493631, 21994399, 24363250, 30909223, 7723630, 8573139		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	25655625		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	27913098	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27530337		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28892789		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20547614, 26062786, 28093254, 28346227, 28870545, 29353455, 30067906, 30703744, 30886573, 31425745, 31476414, 31840000		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	27651038, 27913098	Associate	★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26863601		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31378574		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23276885		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	27484306	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	30041674	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29125194		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21295139, 23010432	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	15877282, 27913098, 33231368	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	17287286		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27651038		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	27651038	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21753152	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	29052564	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	33231368	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	15877282, 17287286, 17301081, 23010432, 23385875, 23759946, 24319143, 25582465, 25613900, 26475597, 26952923, 27913098, 28769029		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21717585		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28822725, 30569418		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25408221, 28801274, 29165354, 30424732, 31030521		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	20547614, 28821274, 29125194, 30877973, 31378574		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	35235001	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27989773, 29981054, 30883351		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24986829		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	21557687, 21986527, 25946042, 28032911, 28502705, 29200096, 29678763, 30668956, 30696107, 30809896		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	1358935		★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	15877282, 19667227, 21295139	Associate	★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	22740690		★☆☆☆☆ Found in Text Mining only