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:0002143	Process	TRNA wobble position uridine thiolation	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	ISS
GO:0016783	Function	Sulfurtransferase activity	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

Causal
Disease term	Disease name	dbSNP ID	References
Deafness	DEAFNESS, AMINOGLYCOSIDE-INDUCED	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	27604308
Developmental delay	Gross motor development 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
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Liver failure	Liver Failure, Acute, LIVER FAILURE, INFANTILE, TRANSIENT, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	21931168, 21153446, 19732863, 25665837, 27604308, 23625533
Mitochondrial myopathy	MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT	rs121434454	21931168
Mitochondrial myopathy with reversible cytochrome c oxidase deficiency	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	rs387906421, rs267606615, rs207459997, rs207460000, rs1603223730, rs1603219020, rs1603220294, rs1603220834
Mitochondrial non-syndromic sensorineural deafness	Mitochondrial non-syndromic sensorineural deafness	rs199474818, rs199474820, rs199474821, rs387906733, rs724159989, rs111033319
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	21153446, 25407320, 25665837, 23625533, 25058219, 19732863, 21931168
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338

Unknown
Disease term	Disease name	Evidence	References	Source
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiomyopathies	Associate	33485800
Deafness	Associate	15944150, 16826519, 18391568, 19338775, 19818876, 28049726, 32400865
End Stage Liver Disease	Associate	35867014
Hearing Loss	Associate	19818876, 32400865
Immunologic Deficiency Syndromes	Associate	33485800
Leigh Disease	Associate	25058219, 33485800
Liver Diseases	Associate	21169334
Liver Failure	Associate	19732863, 33485800, 35867014, 36305855
Liver Failure Acute	Associate	19732863, 36305855
MERRF Syndrome	Associate	15509579
Mitochondrial Diseases	Associate	16826519, 21169334, 23814040, 27854233, 28049726, 28740091, 33128823
Noninsulin dependent diabetes mellitus with deafness	Associate	28049726
Nonsyndromic Deafness	Associate	16826519, 19818876
Respiratory Insufficiency	Associate	15944150, 28049726
Spastic Pseudosclerosis	Associate	25058219