Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	124454
Gene name	Glutamyl-tRNA synthetase 2, mitochondrial
Gene symbol	EARS2
Synonyms (NCBI Gene)	COXPD12MSE1gluRSmtGlnRSmtGluRS
Chromosome	16
Chromosome location	16p12.2
Summary	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200139797	T>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201727231	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs201842633	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs369291371	G>A,C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs376103091	G>A	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514591	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514592	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514593	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514594	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514595	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs746087016	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746838793	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs749912939	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs753414156	->GAG	Likely-pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs761350541	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs778413603	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1021330566	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057524634	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1445826036	G>A,T	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs1555504716	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

190

Show/Hide all (190)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031675	hsa-miR-16-5p	Proteomics	18668040
MIRT050871	hsa-miR-17-5p	CLASH	23622248
MIRT049182	hsa-miR-92a-3p	CLASH	23622248
MIRT046996	hsa-miR-218-5p	CLASH	23622248
MIRT044733	hsa-miR-320a	CLASH	23622248
MIRT043325	hsa-miR-331-3p	CLASH	23622248
MIRT043325	hsa-miR-331-3p	CLASH	23622248
MIRT049182	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727816	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727815	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT951237	hsa-miR-1203	CLIP-seq
MIRT951238	hsa-miR-1208	CLIP-seq
MIRT951239	hsa-miR-1272	CLIP-seq
MIRT951240	hsa-miR-1299	CLIP-seq
MIRT951241	hsa-miR-1323	CLIP-seq
MIRT951242	hsa-miR-140-5p	CLIP-seq
MIRT951243	hsa-miR-143	CLIP-seq
MIRT951244	hsa-miR-224	CLIP-seq
MIRT951245	hsa-miR-3065-5p	CLIP-seq
MIRT951246	hsa-miR-3130-3p	CLIP-seq
MIRT951247	hsa-miR-3171	CLIP-seq
MIRT951248	hsa-miR-3182	CLIP-seq
MIRT951249	hsa-miR-3184	CLIP-seq
MIRT951250	hsa-miR-3921	CLIP-seq
MIRT951251	hsa-miR-3942-3p	CLIP-seq
MIRT951252	hsa-miR-423-5p	CLIP-seq
MIRT951253	hsa-miR-4434	CLIP-seq
MIRT951254	hsa-miR-4468	CLIP-seq
MIRT951255	hsa-miR-4476	CLIP-seq
MIRT951256	hsa-miR-4481	CLIP-seq
MIRT951257	hsa-miR-4497	CLIP-seq
MIRT951258	hsa-miR-4516	CLIP-seq
MIRT951259	hsa-miR-4530	CLIP-seq
MIRT951260	hsa-miR-4531	CLIP-seq
MIRT951261	hsa-miR-4533	CLIP-seq
MIRT951262	hsa-miR-4653-5p	CLIP-seq
MIRT951263	hsa-miR-4668-5p	CLIP-seq
MIRT951264	hsa-miR-4682	CLIP-seq
MIRT951265	hsa-miR-4711-3p	CLIP-seq
MIRT951266	hsa-miR-4727-5p	CLIP-seq
MIRT951267	hsa-miR-4745-5p	CLIP-seq
MIRT951268	hsa-miR-4756-3p	CLIP-seq
MIRT951269	hsa-miR-4758-5p	CLIP-seq
MIRT951270	hsa-miR-4769-3p	CLIP-seq
MIRT951271	hsa-miR-4770	CLIP-seq
MIRT951272	hsa-miR-4782-5p	CLIP-seq
MIRT951273	hsa-miR-4786-3p	CLIP-seq
MIRT951274	hsa-miR-4793-3p	CLIP-seq
MIRT951275	hsa-miR-4802-5p	CLIP-seq
MIRT951276	hsa-miR-490-5p	CLIP-seq
MIRT951277	hsa-miR-516b	CLIP-seq
MIRT951278	hsa-miR-539	CLIP-seq
MIRT951279	hsa-miR-544	CLIP-seq
MIRT951280	hsa-miR-548a-3p	CLIP-seq
MIRT951281	hsa-miR-548e	CLIP-seq
MIRT951282	hsa-miR-548f	CLIP-seq
MIRT951283	hsa-miR-548o	CLIP-seq
MIRT951284	hsa-miR-570	CLIP-seq
MIRT951285	hsa-miR-634	CLIP-seq
MIRT951286	hsa-miR-646	CLIP-seq
MIRT951287	hsa-miR-765	CLIP-seq
MIRT951288	hsa-miR-922	CLIP-seq
MIRT951289	hsa-miR-942	CLIP-seq
MIRT951237	hsa-miR-1203	CLIP-seq
MIRT1981759	hsa-miR-1237	CLIP-seq
MIRT1981760	hsa-miR-1238	CLIP-seq
MIRT1981761	hsa-miR-1246	CLIP-seq
MIRT1981762	hsa-miR-1248	CLIP-seq
MIRT1981763	hsa-miR-1257	CLIP-seq
MIRT1981764	hsa-miR-136	CLIP-seq
MIRT1981765	hsa-miR-153	CLIP-seq
MIRT1981766	hsa-miR-2116	CLIP-seq
MIRT951244	hsa-miR-224	CLIP-seq
MIRT1981767	hsa-miR-2467-5p	CLIP-seq
MIRT1981768	hsa-miR-296-5p	CLIP-seq
MIRT1981769	hsa-miR-3133	CLIP-seq
MIRT1981770	hsa-miR-3188	CLIP-seq
MIRT1981771	hsa-miR-3192	CLIP-seq
MIRT1981772	hsa-miR-320b	CLIP-seq
MIRT1981773	hsa-miR-320c	CLIP-seq
MIRT1981774	hsa-miR-320d	CLIP-seq
MIRT1981775	hsa-miR-3545-3p	CLIP-seq
MIRT1981776	hsa-miR-3607-5p	CLIP-seq
MIRT1981777	hsa-miR-3652	CLIP-seq
MIRT1981778	hsa-miR-3663-5p	CLIP-seq
MIRT1981779	hsa-miR-3686	CLIP-seq
MIRT951250	hsa-miR-3921	CLIP-seq
MIRT1981780	hsa-miR-3940-5p	CLIP-seq
MIRT1981781	hsa-miR-3975	CLIP-seq
MIRT1981782	hsa-miR-4316	CLIP-seq
MIRT1981783	hsa-miR-4320	CLIP-seq
MIRT1981784	hsa-miR-4429	CLIP-seq
MIRT1981785	hsa-miR-4430	CLIP-seq
MIRT1981786	hsa-miR-4459	CLIP-seq
MIRT951255	hsa-miR-4476	CLIP-seq
MIRT1981787	hsa-miR-448	CLIP-seq
MIRT951256	hsa-miR-4481	CLIP-seq
MIRT1981788	hsa-miR-4505	CLIP-seq
MIRT1981789	hsa-miR-4507	CLIP-seq
MIRT951261	hsa-miR-4533	CLIP-seq
MIRT1981790	hsa-miR-455-3p	CLIP-seq
MIRT1981791	hsa-miR-4635	CLIP-seq
MIRT1981792	hsa-miR-4650-5p	CLIP-seq
MIRT951262	hsa-miR-4653-5p	CLIP-seq
MIRT1981793	hsa-miR-4677-5p	CLIP-seq
MIRT951264	hsa-miR-4682	CLIP-seq
MIRT1981794	hsa-miR-4691-5p	CLIP-seq
MIRT1981795	hsa-miR-4694-5p	CLIP-seq
MIRT1981796	hsa-miR-4710	CLIP-seq
MIRT1981797	hsa-miR-4742-3p	CLIP-seq
MIRT951267	hsa-miR-4745-5p	CLIP-seq
MIRT951269	hsa-miR-4758-5p	CLIP-seq
MIRT1981798	hsa-miR-4766-5p	CLIP-seq
MIRT1981799	hsa-miR-4778-5p	CLIP-seq
MIRT1981800	hsa-miR-4795-3p	CLIP-seq
MIRT951275	hsa-miR-4802-5p	CLIP-seq
MIRT1981801	hsa-miR-485-5p	CLIP-seq
MIRT951276	hsa-miR-490-5p	CLIP-seq
MIRT1981802	hsa-miR-518e	CLIP-seq
MIRT1981803	hsa-miR-582-3p	CLIP-seq
MIRT1981804	hsa-miR-593	CLIP-seq
MIRT951286	hsa-miR-646	CLIP-seq
MIRT1981805	hsa-miR-647	CLIP-seq
MIRT1981806	hsa-miR-665	CLIP-seq
MIRT951287	hsa-miR-765	CLIP-seq
MIRT951289	hsa-miR-942	CLIP-seq
MIRT951240	hsa-miR-1299	CLIP-seq
MIRT1981767	hsa-miR-2467-5p	CLIP-seq
MIRT951245	hsa-miR-3065-5p	CLIP-seq
MIRT2216644	hsa-miR-3147	CLIP-seq
MIRT2216645	hsa-miR-3159	CLIP-seq
MIRT1981770	hsa-miR-3188	CLIP-seq
MIRT1981771	hsa-miR-3192	CLIP-seq
MIRT2216646	hsa-miR-3200-5p	CLIP-seq
MIRT2216647	hsa-miR-3202	CLIP-seq
MIRT1981775	hsa-miR-3545-3p	CLIP-seq
MIRT2216648	hsa-miR-3660	CLIP-seq
MIRT2216649	hsa-miR-3925-3p	CLIP-seq
MIRT951251	hsa-miR-3942-3p	CLIP-seq
MIRT1981781	hsa-miR-3975	CLIP-seq
MIRT1981782	hsa-miR-4316	CLIP-seq
MIRT2216650	hsa-miR-4457	CLIP-seq
MIRT951255	hsa-miR-4476	CLIP-seq
MIRT2216651	hsa-miR-4526	CLIP-seq
MIRT951259	hsa-miR-4530	CLIP-seq
MIRT951260	hsa-miR-4531	CLIP-seq
MIRT1981790	hsa-miR-455-3p	CLIP-seq
MIRT1981791	hsa-miR-4635	CLIP-seq
MIRT2216652	hsa-miR-4709-3p	CLIP-seq
MIRT1981796	hsa-miR-4710	CLIP-seq
MIRT951268	hsa-miR-4756-3p	CLIP-seq
MIRT1981801	hsa-miR-485-5p	CLIP-seq
MIRT2216653	hsa-miR-493	CLIP-seq
MIRT2216654	hsa-miR-513b	CLIP-seq
MIRT1981802	hsa-miR-518e	CLIP-seq
MIRT951285	hsa-miR-634	CLIP-seq
MIRT2216655	hsa-miR-766	CLIP-seq
MIRT951288	hsa-miR-922	CLIP-seq
MIRT1981759	hsa-miR-1237	CLIP-seq
MIRT1981767	hsa-miR-2467-5p	CLIP-seq
MIRT1981770	hsa-miR-3188	CLIP-seq
MIRT1981771	hsa-miR-3192	CLIP-seq
MIRT1981781	hsa-miR-3975	CLIP-seq
MIRT1981782	hsa-miR-4316	CLIP-seq
MIRT1981796	hsa-miR-4710	CLIP-seq
MIRT1981801	hsa-miR-485-5p	CLIP-seq
MIRT951238	hsa-miR-1208	CLIP-seq
MIRT1981759	hsa-miR-1237	CLIP-seq
MIRT2520489	hsa-miR-1276	CLIP-seq
MIRT951246	hsa-miR-3130-3p	CLIP-seq
MIRT1981775	hsa-miR-3545-3p	CLIP-seq
MIRT2520490	hsa-miR-3614-3p	CLIP-seq
MIRT2520491	hsa-miR-3614-5p	CLIP-seq
MIRT2520492	hsa-miR-3667-5p	CLIP-seq
MIRT951251	hsa-miR-3942-3p	CLIP-seq
MIRT2520493	hsa-miR-412	CLIP-seq
MIRT2520494	hsa-miR-4279	CLIP-seq
MIRT2520495	hsa-miR-4311	CLIP-seq
MIRT2520496	hsa-miR-4420	CLIP-seq
MIRT951257	hsa-miR-4497	CLIP-seq
MIRT1981791	hsa-miR-4635	CLIP-seq
MIRT2520497	hsa-miR-4652-3p	CLIP-seq
MIRT2520498	hsa-miR-4659a-3p	CLIP-seq
MIRT2520499	hsa-miR-4659b-3p	CLIP-seq
MIRT2520500	hsa-miR-4677-3p	CLIP-seq
MIRT2520501	hsa-miR-4679	CLIP-seq
MIRT2520502	hsa-miR-4715-3p	CLIP-seq
MIRT951274	hsa-miR-4793-3p	CLIP-seq
MIRT951279	hsa-miR-544	CLIP-seq
MIRT2520503	hsa-miR-583	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004818	Function	Glutamate-tRNA ligase activity	IBA
GO:0004818	Function	Glutamate-tRNA ligase activity	IDA	19805282
GO:0004818	Function	Glutamate-tRNA ligase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	19805282
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006424	Process	Glutamyl-tRNA aminoacylation	IBA
GO:0006424	Process	Glutamyl-tRNA aminoacylation	IDA	19805282
GO:0006424	Process	Glutamyl-tRNA aminoacylation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0043039	Process	TRNA aminoacylation	IEA
GO:0050561	Function	Glutamate-tRNA(Gln) ligase activity	IDA	19805282
GO:0050561	Function	Glutamate-tRNA(Gln) ligase activity	IEA
GO:0070127	Process	TRNA aminoacylation for mitochondrial protein translation	IDA	19805282

MIM	HGNC	e!Ensembl
612799	29419	ENSG00000103356

Q5JPH6

Protein name

Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial (EC 6.1.1.24) (Glutamate--tRNA(Gln) ligase EARS2, mitochondrial) (EC 6.1.1.17) (Glutamyl-tRNA synthetase) (GluRS) (Mitochondrial glutamyl-tRNA synthetase) (mtGluRS)

Protein function

Non-discriminating glutamyl-tRNA synthetase that catalyzes aminoacylation of both mitochondrial tRNA(Glu) and tRNA(Gln) and participates in RNA aminoacylation for mitochondrial protein translation (PubMed:19805282). Attachs glutamate to tRNA(Glu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00749	tRNA-synt_1c	36 → 353	tRNA synthetases class I (E and Q), catalytic domain	Domain

Sequence

MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYN
YIFAKKYQGSFILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQR
LELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLA
KDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMG
ISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAAD
GFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQ
RLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPV
YSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTK
YSNVMKLLRMALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS

Sequence length

523

Interactions

View interactions

	KEGG
	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways Biosynthesis of cofactors

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EARS2-related disorder	Likely pathogenic	rs2506892252	RCV003335931	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Likely pathogenic; Pathogenic	rs767857970, rs1786035298, rs2506891682, rs2506863798, rs778413603, rs749048646, rs1021330566, rs376103091, rs201842633, rs397514593, rs397514594, rs397514595, rs1445826036, rs1965287605, rs1355685453	RCV003453845 RCV002283349 RCV003144917 RCV003389032 RCV003447531 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BYZANTHINE ARCH PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	33855712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26780086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10488967, 10886297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10488967, 10886297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35779338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	BEFREE	22492562, 26619324, 27117034, 27206875, 27875839		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	22492562, 24357685, 25655951, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	22492562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	22492562, 23008233, 26741492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	22492562, 26780086		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10886297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10886297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10886297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	22492562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	9861324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	12225635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	40389993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33855712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	26893310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	9861324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26169973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	32887222, 33128823, 33855712, 40389993	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	10488967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	28666962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35779338	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38052461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	40389993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	22492562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28991857		★★★★★ ★☆☆☆☆ Found in Text Mining only

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)