YARS2 (tyrosyl-tRNA synthetase 2)

Gene

• Entrez ID: 51067
• Gene name: Tyrosyl-tRNA synthetase 2
• Gene symbol: YARS2
• Synonyms (NCBI Gene): CGI-04, MLASA2, MT-TYRRS, TYRRS
• Chromosome: 12
• Chromosome location: 12p11.21
• Summary: This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11539445	C>A,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267607180	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372098364	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs541554381	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs555093151	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs565781501	->T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice acceptor variant
rs587777213	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777214	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs587777215	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs745595833	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs762813092	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs768344665	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs775256289	->TGATCAGACATGACCTCC	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs797045077	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224270	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224271	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224272	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224273	AAT>TC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307738	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1365700579	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555137047	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031764	hsa-miR-16-5p	Proteomics	18668040
MIRT051361	hsa-let-7f-5p	CLASH	23622248
MIRT045500	hsa-miR-149-5p	CLASH	23622248
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT1498264	hsa-miR-3934	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT1498267	hsa-miR-4477a	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT1557318	hsa-miR-342-3p	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT1557320	hsa-miR-4670-3p	CLIP-seq
MIRT1557321	hsa-miR-4798-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT2150089	hsa-miR-554	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT2370290	hsa-miR-1249	CLIP-seq
MIRT2370291	hsa-miR-146b-3p	CLIP-seq
MIRT2370292	hsa-miR-149	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT2370293	hsa-miR-3064-5p	CLIP-seq
MIRT2370294	hsa-miR-3126-3p	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT2370295	hsa-miR-3176	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT2370296	hsa-miR-371-5p	CLIP-seq
MIRT2370297	hsa-miR-371b-5p	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT2370298	hsa-miR-3922-3p	CLIP-seq
MIRT2370299	hsa-miR-4326	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT2370300	hsa-miR-4735-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT2370301	hsa-miR-4775	CLIP-seq
MIRT2370302	hsa-miR-4794	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT2370303	hsa-miR-590-3p	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT2397118	hsa-miR-153	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT2397119	hsa-miR-448	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	20598274
GO:0000049	Function	TRNA binding	TAS	15779907
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004831	Function	Tyrosine-tRNA ligase activity	IBA
GO:0004831	Function	Tyrosine-tRNA ligase activity	IDA	15779907, 15840810, 17997975, 20598274
GO:0004831	Function	Tyrosine-tRNA ligase activity	IEA
GO:0004831	Function	Tyrosine-tRNA ligase activity	NAS	10810093
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	15779907
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IC	20598274
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	10810093
GO:0005739	Component	Mitochondrion	TAS	15779907
GO:0005759	Component	Mitochondrial matrix	IDA	30006346
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	10810093
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006437	Process	Tyrosyl-tRNA aminoacylation	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016874	Function	Ligase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	15779907, 17997975
GO:0043039	Process	TRNA aminoacylation	IBA
GO:0043039	Process	TRNA aminoacylation	IDA	15779907, 15840810, 17997975
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IC	15779907
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IMP	20598274
GO:0072545	Function	L-tyrosine binding	IDA	17997975

Other IDs

• MIM: 610957
• HGNC: 24249
• e!Ensembl: ENSG00000139131

Protein

• UniProt ID: Q9Y2Z4
• Protein name: Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) (Tyrosyl-tRNA synthetase) (TyrRS)
• Protein function: Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).
• PDB: 2PID, 3ZXI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00579	tRNA-synt_1b	71 → 375	tRNA synthetases class I (W and Y)	Family

• Sequence:

  MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKARGLFKDFFPETGTKIE
  LPELFDRGTASFPQTIYCGFDPTADSLHVGHLLALLGLFHLQRAGHNVIALVGGATARLG
  DPSGRTKEREALETERVRANARALRLGLEALAANHQQLFTDGRSWGSFTVLDNSAWYQKQ
  HLVDFLAAVGGHFRMGTLLSRQSVQLRLKSPEGMSLAEFFYQVLQAYDFYYLFQRYGCRV
  QLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGAKLGKSAGNAVWLNRDKTSPF
  ELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQLHVKEPERRGPQKRLAAEVTKLVHGR
  EGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFSEFFLDPGTSVLDTCRKANAIP
  DGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNGLSLLKIGKRNFYIIKWLQL

• Sequence length: 477

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Mitochondrial tRNA aminoacylation

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 disease	Pathogenic	rs775256289, rs1365700579	RCV000508833 RCV000508696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, lactic acidosis, and sideroblastic anemia 2	Pathogenic; Likely pathogenic	rs587777213, rs11539445, rs587777214, rs587777215, rs267607180, rs748941040, rs372098364, rs797045077, rs745595833	RCV000088671 RCV000088672 RCV000088673 RCV000088674 RCV000001111 RCV003404069 RCV000191148 RCV000191147 RCV003152694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY WITH LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy, lactic acidosis, and sideroblastic anemia	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YARS2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely 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	20598274, 24344687, 28395030, 30026338, 35393742	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	35393742	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	29300242	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	24344687	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	20598274, 28395030, 30026338	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35393742	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28395030	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG	26604000, 27145208		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	16429158, 17545306, 21732632, 26138142, 31501329, 31695036		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36154909	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	31685661	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	Encephalopathy	CLINVAR_DG	17460227, 26604000, 27145208		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	38562030	Associate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	CLINVAR_DG	26604000, 27145208		★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	CLINVAR_DG	26604000, 27145208		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	38562030	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20598274, 24344687, 28395030, 35393742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24430573, 25037980, 28395030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG	28812649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	23918765, 24344687, 28395030, 30026338	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	28395030		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	Mitochondrial Myopathy And Sideroblastic Anemia	BEFREE	20598274, 22504945, 23918765, 24344687, 25037980, 28395030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	Mitochondrial Myopathy And Sideroblastic Anemia	ORPHANET_DG	20598274, 22504945, 24344687, 24430573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial myopathy and sideroblastic anemia	Mitochondrial Myopathy And Sideroblastic Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA	Mitochondrial Myopathy And Sideroblastic Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	24344687		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy with lactic acidosis and sideroblastic anemia	Mitochondrial myopathy with sideroblastic anemia	Pubtator	20598274, 23918765, 24344687, 25037980, 30026338, 35393742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	Myopathy, lactic acidosis, and sideroblastic anemia	GENOMICS_ENGLAND_DG	20598274, 24344687, 24430573, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	Myopathy, lactic acidosis, and sideroblastic anemia	CLINVAR_DG	20598274, 23918765, 24344687, 26633545, 30026338		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	Myopathy, lactic acidosis, and sideroblastic anemia	UNIPROT_DG	20598274, 22504945		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	Myopathy, lactic acidosis, and sideroblastic anemia	BEFREE	24430573, 30026338		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy	Neuropathy	BEFREE	16429158		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY 5 (disorder)	Optic Atrophy	CLINVAR_DG	27145208		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	34156427	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	26647310		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CLINVAR_DG	26604000, 27145208		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36690975	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only