TRMU (tRNA mitochondrial 2-thiouridylase)

Gene

• Entrez ID: 55687
• Gene name: TRNA mitochondrial 2-thiouridylase
• Gene symbol: TRMU
• Synonyms (NCBI Gene): LCAL3, MTO2, MTU1, TRMT, TRMT1
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11090865	G>T	Risk-factor, benign	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs117710834	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs118203990	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs118203991	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs118203992	T>A,C,G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, initiator codon variant
rs144054758	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs367683258	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs369925943	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387907022	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs527315924	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, synonymous variant, coding sequence variant
rs747853875	A>G	Likely-pathogenic	Splice acceptor variant
rs753039116	C>G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs753112330	->AGGCTGTGC	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, downstream transcript variant, inframe insertion, coding sequence variant, genic downstream transcript variant
rs754239335	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant, missense variant
rs756600903	T>-,TT	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs762710723	CTT>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant, non coding transcript variant
rs763718617	GGGTCACAGC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766314948	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs771076163	G>A,C	Likely-pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs776692221	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs863224239	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224242	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs926748713	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524822	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1064794755	A>G	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, missense variant
rs1085307928	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs1490906786	C>-,CC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1569072157	G>A	Likely-pathogenic	Splice donor variant
rs1601968978	C>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1601977105	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT495664	hsa-miR-6768-5p	PAR-CLIP	22291592
MIRT495663	hsa-miR-4310	PAR-CLIP	22291592
MIRT495662	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495661	hsa-miR-4269	PAR-CLIP	22291592
MIRT495660	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT495664	hsa-miR-6768-5p	PAR-CLIP	22291592
MIRT495663	hsa-miR-4310	PAR-CLIP	22291592
MIRT495662	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495661	hsa-miR-4269	PAR-CLIP	22291592
MIRT495660	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT1456999	hsa-miR-1184	CLIP-seq
MIRT1457000	hsa-miR-1205	CLIP-seq
MIRT1457001	hsa-miR-1236	CLIP-seq
MIRT1457002	hsa-miR-1343	CLIP-seq
MIRT1457003	hsa-miR-2467-5p	CLIP-seq
MIRT1457004	hsa-miR-3158-5p	CLIP-seq
MIRT1457005	hsa-miR-3160-3p	CLIP-seq
MIRT1457006	hsa-miR-3188	CLIP-seq
MIRT1457007	hsa-miR-3665	CLIP-seq
MIRT1457008	hsa-miR-3943	CLIP-seq
MIRT1457009	hsa-miR-3975	CLIP-seq
MIRT1457010	hsa-miR-4283	CLIP-seq
MIRT1457011	hsa-miR-4313	CLIP-seq
MIRT1457012	hsa-miR-4449	CLIP-seq
MIRT1457013	hsa-miR-4489	CLIP-seq
MIRT1457014	hsa-miR-4633-3p	CLIP-seq
MIRT1457015	hsa-miR-4649-3p	CLIP-seq
MIRT1457016	hsa-miR-485-5p	CLIP-seq
MIRT1457017	hsa-miR-657	CLIP-seq
MIRT1456999	hsa-miR-1184	CLIP-seq
MIRT1457000	hsa-miR-1205	CLIP-seq
MIRT1457004	hsa-miR-3158-5p	CLIP-seq
MIRT2357766	hsa-miR-3664-5p	CLIP-seq
MIRT1457007	hsa-miR-3665	CLIP-seq
MIRT1457008	hsa-miR-3943	CLIP-seq
MIRT1457011	hsa-miR-4313	CLIP-seq
MIRT1457012	hsa-miR-4449	CLIP-seq
MIRT2357767	hsa-miR-4714-5p	CLIP-seq
MIRT1457017	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002143	Process	TRNA wobble position uridine thiolation	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0008033	Process	TRNA processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016783	Function	Sulfurtransferase activity	IEA
GO:0061708	Function	TRNA-5-taurinomethyluridine 2-sulfurtransferase	IEA

Other IDs

• MIM: 610230
• HGNC: 25481
• e!Ensembl: ENSG00000100416

Protein

• UniProt ID: O75648
• Protein name: Mitochondrial tRNA-specific 2-thiouridylase 1 (EC 2.8.1.14) (MTO2 homolog)
• Protein function: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03054	tRNA_Me_trans	5 → 383		Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain. {ECO:0000269|PubMed:16513084}.
• Sequence:

  MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRV
  CQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGA
  DAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQV
  SQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
  PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
  YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAV
  RALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPL
  L

• Sequence length: 421

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
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Likely pathogenic; Pathogenic	rs768299416, rs2147096093, rs778799889, rs745338284, rs774153227, rs2147053913, rs2147853237, rs773484808, rs769668643, rs118203990, rs118203991, rs118203992, rs2147124401, rs2518202180, rs1225948299, rs2518201331, rs763926467, rs367683258, rs766314948, rs2078453451, rs749508862, rs1336164502, rs2518215957, rs779868712, rs2518131926, rs2078022380, rs387907022, rs1085307928, rs753039116, rs1490906786, rs756600903, rs762738569, rs747853875, rs1601977105, rs1174791046, rs764622793	RCV001826140 RCV005038167 RCV001801250 RCV002499800 RCV005023151 RCV002492399 RCV005025479 RCV002482408 RCV002506887 RCV000001354 RCV000001356 RCV000001357 RCV002251704 RCV002282907 RCV002282908 RCV002470109 RCV005028196 RCV005031733 RCV001273736 RCV000196798 RCV003131773 RCV003226829 RCV003332050 RCV005616647 RCV005036826 RCV005030137 RCV005036947 RCV000023804 RCV005606664 RCV001274268 RCV000674989 RCV002499369 RCV005029430 RCV005029497 RCV000995908 RCV001250082 RCV001250083	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aminoglycoside-induced deafness	Likely pathogenic; Pathogenic	rs768299416, rs2147096093, rs1800386420, rs745338284, rs774153227, rs2147053913, rs2147853237, rs2147054656, rs1407825579, rs773484808, rs769668643, rs1464059546, rs118203990, rs1225948299, rs763926467, rs755535065, rs2518210719, rs749895492, rs118203992, rs367683258, rs2518162180, rs1336164502, rs2078261207, rs1436976326, rs2518162686, rs2518202192, rs1215799527, rs2518215957, rs2518202100, rs2518179155, rs2518223366, rs2518211256, rs914793719, rs779868712, rs2518131963, rs2078511375, rs771177317, rs751250875, rs1191230933, rs2518162094, rs1351144189, rs2518190654, rs2518202141, rs774631375, rs2147116755, rs2518201351, rs2518210728, rs2518132615, rs2518223057, rs2518191972, rs2518131926, rs755646665, rs2078022380, rs1484132200, rs2518120850, rs756600903, rs2078376803, rs2518179911, rs2518212002, rs2518216660, rs387907022, rs753039116, rs1490906786, rs762738569, rs1569072157, rs747853875, rs1174791046, rs759790041, rs764622793	RCV003473909 RCV003473908 RCV003473926 RCV002499800 RCV005023151 RCV002492399 RCV005025479 RCV003475147 RCV003475283 RCV002482408 RCV002506887 RCV004571516 RCV003472956 RCV003475326 RCV003475505 RCV004571243 RCV003475429 RCV003475436 RCV005031733 RCV003474950 RCV003475479 RCV003475564 RCV003474162 RCV003474163 RCV003474164 RCV003474165 RCV003474166 RCV003474167 RCV003474168 RCV003474169 RCV003474170 RCV003474171 RCV003474172 RCV003474173 RCV003474174 RCV003474175 RCV003474176 RCV003474177 RCV003474178 RCV003474179 RCV003474180 RCV003474181 RCV003474182 RCV003474183 RCV003474184 RCV003474185 RCV003474186 RCV003474187 RCV003474188 RCV003474189 RCV003474190 RCV003474191 RCV005030137 RCV004573176 RCV005036947 RCV004573766 RCV004573767 RCV004573768 RCV004573769 RCV004573770 RCV004573771 RCV004573772 RCV002496439 RCV003476176 RCV003472178 RCV002499369 RCV003472308 RCV003472348 RCV003472415 RCV003473679 RCV003473697 RCV003473761 RCV003473829 RCV003473836	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Germ cell tumor of testis	Likely pathogenic	rs2518201331	RCV005931972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs1297282365	RCV005931557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRMU-related disorder	Pathogenic; Likely pathogenic	rs118203990, rs2518132615	RCV003944789 RCV003399981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AMINOGLYCOSIDE-INDUCED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, mitochondrial, modifier of	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Liver failure	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35021009	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25058219		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33485800	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21153446		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	15944150, 16826519, 18391568, 19338775, 19818876, 28049726, 32400865	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AMINOGLYCOSIDE-INDUCED	Deafness	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AMINOGLYCOSIDE-INDUCED	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	31898845	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19732863, 21153446, 21931168, 23625533, 25058219, 25407320, 25665837		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31898845	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	28784718		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19818876, 32400865	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68	Intellectual Developmental Disorder	GENOMICS_ENGLAND_DG	28784718		★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68	Intellectual Developmental Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26308914, 28784718		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26308914, 28784718, 31898845	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28784718		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25058219		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	25058219, 33485800	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21153446		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	21169334	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	19732863, 21890497		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19732863, 33485800, 35867014, 36305855	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	19732863, 36305855	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	21153446		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
LIVER FAILURE, INFANTILE, TRANSIENT	Liver failure	UNIPROT_DG	19732863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	Liver failure	ORPHANET_DG	19732863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	Liver failure	CLINVAR_DG	19732863, 21931168, 23625533, 25665837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	Liver failure	GENOMICS_ENGLAND_DG	21153446, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	Liver failure	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	21890497		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	15509579	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	21890497		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	16826519, 21169334, 23814040, 27854233, 28049726, 28740091, 33128823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT	Mitochondrial myopathy	ORPHANET_DG	21931168		★☆☆☆☆ Found in Text Mining only
Mitochondrial non-syndromic sensorineural deafness	Mitochondrial Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	23814040, 30740308		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19732863, 21153446, 21931168, 23625533, 25058219, 25407320, 25665837		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only