EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)

Gene

• Entrez ID: 124454
• Gene name: Glutamyl-tRNA synthetase 2, mitochondrial
• Gene symbol: EARS2
• Synonyms (NCBI Gene): COXPD12, MSE1, gluRS, mtGlnRS, mtGluRS
• Disease Acronyms (UniProt): COXPD12
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0004818	Function	Glutamate-tRNA ligase activity	IBA	21873635
GO:0004818	Function	Glutamate-tRNA ligase activity	IDA	19805282
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IDA	19805282
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006424	Process	Glutamyl-tRNA aminoacylation	IBA	21873635
GO:0006424	Process	Glutamyl-tRNA aminoacylation	IDA	19805282
GO:0008270	Function	Zinc ion binding	IEA
GO:0050561	Function	Glutamate-tRNA(Gln) ligase activity	IDA	19805282
GO:0070127	Process	TRNA aminoacylation for mitochondrial protein translation	IDA	19805282

Other IDs

• MIM: 612799
• HGNC: 29419
• e!Ensembl: ENSG00000103356

Protein

• UniProt ID: 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

Pathways

KEGG:

Porphyrin metabolism
Aminoacyl-tRNA biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	22492562, 27604308, 26780086, 24357685, 25655951, 23008233, 26741492
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	22492562
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	rs376103091, rs201842633, rs397514593, rs397514594, rs397514595, rs778413603, rs749048646, rs1021330566, rs1445826036
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Spastic tetraparesis	Spastic tetraparesis			ClinVar
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	33855712
Breast Neoplasms	Associate	35779338
CoQ responsive OXPHOS deficiency	Associate	40389993
Fetal akinesia syndrome X linked	Associate	31680123
Heredodegenerative Disorders Nervous System	Associate	22492562
Immune System Diseases	Associate	40389993
Immunologic Deficiency Syndromes	Associate	33855712
Intellectual Disability	Associate	33855712
Leukoencephalopathies	Associate	22492562, 26893310, 32887222, 40389993
Lymphoma B Cell	Associate	40389993
Mitochondrial Diseases	Associate	32887222, 33128823, 33855712, 40389993
Pancreatic Neoplasms	Stimulate	35779338
Prostatic Neoplasms	Associate	38052461
Respiratory Tract Infections	Associate	40389993
Teratoma	Associate	20930449
Tuberous Sclerosis	Associate	22492562