SLC25A10 (solute carrier family 25 member 10)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1468
• Gene name: Solute carrier family 25 member 10
• Gene symbol: SLC25A10
• Synonyms (NCBI Gene): DIC, MTDPS19
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs114621664	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs200706742	G>A	Likely-pathogenic	Intron variant
rs1555703272	A>T	Likely-pathogenic	Stop gained, coding sequence variant

miRNA Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023781	hsa-miR-1-3p	Proteomics	18668040
MIRT046668	hsa-miR-222-3p	CLASH	23622248
MIRT041535	hsa-miR-193b-3p	CLASH	23622248
MIRT443503	hsa-miR-4726-3p	PAR-CLIP	22100165
MIRT443503	hsa-miR-4726-3p	PAR-CLIP	22100165
MIRT1355071	hsa-miR-106a	CLIP-seq
MIRT1355072	hsa-miR-106b	CLIP-seq
MIRT1355073	hsa-miR-1287	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT1355075	hsa-miR-17	CLIP-seq
MIRT1355076	hsa-miR-1915	CLIP-seq
MIRT1355077	hsa-miR-20a	CLIP-seq
MIRT1355078	hsa-miR-20b	CLIP-seq
MIRT1355079	hsa-miR-302a	CLIP-seq
MIRT1355080	hsa-miR-302b	CLIP-seq
MIRT1355081	hsa-miR-302c	CLIP-seq
MIRT1355082	hsa-miR-302d	CLIP-seq
MIRT1355083	hsa-miR-302e	CLIP-seq
MIRT1355084	hsa-miR-3135b	CLIP-seq
MIRT1355085	hsa-miR-342-5p	CLIP-seq
MIRT1355086	hsa-miR-3688-3p	CLIP-seq
MIRT1355087	hsa-miR-3691-3p	CLIP-seq
MIRT1355088	hsa-miR-372	CLIP-seq
MIRT1355089	hsa-miR-373	CLIP-seq
MIRT1355090	hsa-miR-3943	CLIP-seq
MIRT1355091	hsa-miR-3978	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT1355093	hsa-miR-4664-5p	CLIP-seq
MIRT1355094	hsa-miR-4715-3p	CLIP-seq
MIRT1355095	hsa-miR-4729	CLIP-seq
MIRT1355096	hsa-miR-4786-3p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT1355098	hsa-miR-512-3p	CLIP-seq
MIRT1355099	hsa-miR-519d	CLIP-seq
MIRT1355100	hsa-miR-520a-3p	CLIP-seq
MIRT1355101	hsa-miR-520b	CLIP-seq
MIRT1355102	hsa-miR-520c-3p	CLIP-seq
MIRT1355103	hsa-miR-520d-3p	CLIP-seq
MIRT1355104	hsa-miR-520e	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT1355106	hsa-miR-7	CLIP-seq
MIRT1355107	hsa-miR-93	CLIP-seq
MIRT1355108	hsa-miR-938	CLIP-seq
MIRT2105169	hsa-miR-1293	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT2105170	hsa-miR-214	CLIP-seq
MIRT2105171	hsa-miR-22	CLIP-seq
MIRT2105172	hsa-miR-2467-3p	CLIP-seq
MIRT2105173	hsa-miR-3166	CLIP-seq
MIRT2105174	hsa-miR-3173-3p	CLIP-seq
MIRT2105175	hsa-miR-3175	CLIP-seq
MIRT2105176	hsa-miR-3612	CLIP-seq
MIRT2105177	hsa-miR-3619-5p	CLIP-seq
MIRT2105178	hsa-miR-3655	CLIP-seq
MIRT2105179	hsa-miR-3914	CLIP-seq
MIRT2105180	hsa-miR-3928	CLIP-seq
MIRT2105181	hsa-miR-3944-5p	CLIP-seq
MIRT2105182	hsa-miR-4291	CLIP-seq
MIRT2105183	hsa-miR-4428	CLIP-seq
MIRT2105184	hsa-miR-4483	CLIP-seq
MIRT2105185	hsa-miR-4521	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT2105186	hsa-miR-4660	CLIP-seq
MIRT2105187	hsa-miR-4707-3p	CLIP-seq
MIRT2105188	hsa-miR-4781-5p	CLIP-seq
MIRT2105189	hsa-miR-4787-5p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT2105190	hsa-miR-519a	CLIP-seq
MIRT2105191	hsa-miR-519b-3p	CLIP-seq
MIRT2105192	hsa-miR-519c-3p	CLIP-seq
MIRT2105193	hsa-miR-548v	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT2105194	hsa-miR-650	CLIP-seq
MIRT2105195	hsa-miR-761	CLIP-seq
MIRT2105196	hsa-miR-922	CLIP-seq
MIRT2329767	hsa-miR-103a	CLIP-seq
MIRT2329768	hsa-miR-107	CLIP-seq
MIRT2329769	hsa-miR-1205	CLIP-seq
MIRT2329770	hsa-miR-1260	CLIP-seq
MIRT2329771	hsa-miR-1260b	CLIP-seq
MIRT2329772	hsa-miR-1827	CLIP-seq
MIRT2329773	hsa-miR-1909	CLIP-seq
MIRT1355076	hsa-miR-1915	CLIP-seq
MIRT2105172	hsa-miR-2467-3p	CLIP-seq
MIRT1355085	hsa-miR-342-5p	CLIP-seq
MIRT2329774	hsa-miR-3605-5p	CLIP-seq
MIRT2105176	hsa-miR-3612	CLIP-seq
MIRT2105178	hsa-miR-3655	CLIP-seq
MIRT2329775	hsa-miR-3665	CLIP-seq
MIRT1355090	hsa-miR-3943	CLIP-seq
MIRT2329776	hsa-miR-4252	CLIP-seq
MIRT2329777	hsa-miR-4418	CLIP-seq
MIRT2329778	hsa-miR-4436b-3p	CLIP-seq
MIRT2329779	hsa-miR-4459	CLIP-seq
MIRT2329780	hsa-miR-4514	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT1355093	hsa-miR-4664-5p	CLIP-seq
MIRT2329781	hsa-miR-4692	CLIP-seq
MIRT2329782	hsa-miR-4746-3p	CLIP-seq
MIRT2329783	hsa-miR-509-3-5p	CLIP-seq
MIRT2329784	hsa-miR-509-5p	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq
MIRT2105194	hsa-miR-650	CLIP-seq
MIRT2329785	hsa-miR-663b	CLIP-seq
MIRT2329786	hsa-miR-665	CLIP-seq
MIRT2329787	hsa-miR-885-3p	CLIP-seq
MIRT1355108	hsa-miR-938	CLIP-seq
MIRT2105169	hsa-miR-1293	CLIP-seq
MIRT1355074	hsa-miR-1301	CLIP-seq
MIRT2105181	hsa-miR-3944-5p	CLIP-seq
MIRT2105184	hsa-miR-4483	CLIP-seq
MIRT1355092	hsa-miR-4651	CLIP-seq
MIRT2105186	hsa-miR-4660	CLIP-seq
MIRT2105188	hsa-miR-4781-5p	CLIP-seq
MIRT2105189	hsa-miR-4787-5p	CLIP-seq
MIRT1355097	hsa-miR-5047	CLIP-seq
MIRT2105193	hsa-miR-548v	CLIP-seq
MIRT1355105	hsa-miR-608	CLIP-seq

Gene ontology (GO) Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005310	Function	Dicarboxylic acid transmembrane transporter activity	EXP	29211846
GO:0005310	Function	Dicarboxylic acid transmembrane transporter activity	IEA
GO:0005310	Function	Dicarboxylic acid transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	19060904, 19447967, 21516116, 25416956, 26871637, 31515488, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006835	Process	Dicarboxylic acid transport	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015117	Function	Thiosulfate transmembrane transporter activity	IBA
GO:0015131	Function	Oxaloacetate transmembrane transporter activity	IBA
GO:0015140	Function	Malate transmembrane transporter activity	IBA
GO:0015140	Function	Malate transmembrane transporter activity	IEA
GO:0015141	Function	Succinate transmembrane transporter activity	IBA
GO:0015291	Function	Secondary active transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015709	Process	Thiosulfate transport	IBA
GO:0015729	Process	Oxaloacetate transport	IBA
GO:0016020	Component	Membrane	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IBA
GO:0046166	Process	Glyceraldehyde-3-phosphate biosynthetic process	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	TAS
GO:0071422	Process	Succinate transmembrane transport	IBA
GO:0071423	Process	Malate transmembrane transport	IBA
GO:1902356	Process	Oxaloacetate(2-) transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	IBA

Other IDs

• MIM: 606794
• HGNC: 10980
• e!Ensembl: ENSG00000183048

Protein

• UniProt ID: Q9UBX3
• Protein name: Mitochondrial dicarboxylate carrier (DIC) (Solute carrier family 25 member 10)
• Protein function: Catalyzes the electroneutral exchange or flux of physiologically important metabolites such as dicarboxylates (malonate, malate, succinate), inorganic sulfur-containing anions, and phosphate, across mitochondrial inner membrane (PubMed:29211846)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	196 → 284	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	5 → 93	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	95 → 192	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in high amounts in liver and kidney, and at lower levels in all the other tissues analyzed. {ECO:0000269|PubMed:10585886}.
• Sequence:

  MAAEARVSRWYFGGLASCGAACCTHPLDLLKVHLQTQQEVKLRMTGMALRVVRTDGILAL
  YSGLSASLCRQMTYSLTRFAIYETVRDRVAKGSQGPLPFHEKVLLGSVSGLAGGFVGTPA
  DLVNVRMQNDVKLPQGQRRNYAHALDGLYRVAREEGLRRLFSGATMASSRGALVTVGQLS
  CYDQAKQLVLSTGYLSDNIFTHFVASFIAGGCATFLCQPLDVLKTRLMNSKGEYQGVFHC
  AVETAKLGPLAFYKGLVPAGIRLIPHTVLTFVFLEQLRKNFGIKVPS

• Sequence length: 287

Pathways

KEGG Pathway	Reactome Pathway
Proximal tubule bicarbonate reclamation	Sulfide oxidation to sulfate
	Organic anion transporters
	Gluconeogenesis

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
Mitochondrial complex I deficiency	Likely pathogenic	rs1555703272	RCV000516166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 19	Likely pathogenic	rs1555703272	RCV001251077	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CARCINOMA	—	CTD	12376462	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	23259602	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	35661827	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Orphanet	16027120, 29211846	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A10-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (37)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11779431, 8689611		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	30668429		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11114710		★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	31003830		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30668429		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	302683, 30430990, 30453810		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG	29211846		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29211846		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30258438		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30978634		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30978634		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31185018	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28570579	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28033504		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28942194		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	BEFREE	31003830		★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	29211846	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	29211846		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29211846	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31462723		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31462723		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25797253		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29211846	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29211846		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28570579	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36114504	Associate	★☆☆☆☆ Found in Text Mining only
Purpura Fulminans	Purpura Fulminans	BEFREE	1503096, 2103316, 2149204		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	30978634		★☆☆☆☆ Found in Text Mining only
Pyruvate Carboxylase Deficiency Disease	Pyruvate Carboxylase Deficiency Disease	BEFREE	11438441		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	2133217, 29764273		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	3840918		★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	30978634		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2149204		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GUK1 2 shared diseasesMitochondrial dna depletion syndrome, Mitochondrial disease 3 shared evidence sourcesDisgenet (Mitochondrial disease), ClinVar (Mitochondrial dna depletion syndrome), HPO (Mitochondrial dna depletion syndrome) Related via 2 shared diseases including Mitochondrial dna depletion syndrome, Mitochondrial disease — evidence mostly Disgenet. MGME1 2 shared diseasesMitochondrial dna depletion syndrome, Mitochondrial disease 5 shared evidence sourcesDisgenet (Mitochondrial dna depletion syndrome), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease), ClinVar (Mitochondrial dna depletion syndrome), HPO (Mitochondrial dna depletion syndrome) Related via 2 shared diseases including Mitochondrial dna depletion syndrome, Mitochondrial disease — evidence mostly Disgenet. NDUFAF1 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 3 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 2 shared diseases including Mitochondrial complex deficiency, Mitochondrial disease — evidence mostly Disgenet. LIG3 2 shared diseasesMitochondrial dna depletion syndrome, Mitochondrial disease 4 shared evidence sourcesDisgenet (Mitochondrial dna depletion syndrome), ClinGen (Mitochondrial disease), ClinVar (Mitochondrial dna depletion syndrome), HPO (Mitochondrial dna depletion syndrome) Related via 2 shared diseases including Mitochondrial dna depletion syndrome, Mitochondrial disease — evidence mostly Disgenet. NDUFA8 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 3 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 2 shared diseases including Mitochondrial complex deficiency, Mitochondrial disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GUK1	2	["Mitochondrial dna depletion syndrome","Mitochondrial disease"]	0	[]	3	["Disgenet (Mitochondrial disease)","ClinVar (Mitochondrial dna depletion syndrome)","HPO (Mitochondrial dna depletion syndrome)"]
MGME1	2	["Mitochondrial dna depletion syndrome","Mitochondrial disease"]	0	[]	5	["Disgenet (Mitochondrial dna depletion syndrome)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)","ClinVar (Mitochondrial dna depletion syndrome)","HPO (Mitochondrial dna depletion syndrome)"]
NDUFAF1	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	0	[]	3	["Disgenet (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
LIG3	2	["Mitochondrial dna depletion syndrome","Mitochondrial disease"]	0	[]	4	["Disgenet (Mitochondrial dna depletion syndrome)","ClinGen (Mitochondrial disease)","ClinVar (Mitochondrial dna depletion syndrome)","HPO (Mitochondrial dna depletion syndrome)"]
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	0	[]	3	["Disgenet (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Scoliosis Linked via 2 of 5 related genesLIG3, NDUFA8 Coronary artery disease Linked via 1 of 5 related genesGUK1 Alzheimer disease Linked via 1 of 5 related genesMGME1 Ophthalmoplegia Linked via 1 of 5 related genesMGME1 Willis-ekbom disease Linked via 1 of 5 related genesLIG3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Scoliosis	2	["LIG3","NDUFA8"]
Coronary artery disease	1	["GUK1"]
Alzheimer disease	1	["MGME1"]
Ophthalmoplegia	1	["MGME1"]
Willis-ekbom disease	1	["LIG3"]