TUFM (Tu translation elongation factor, mitochondrial)

Gene

• Entrez ID: 7284
• Gene name: Tu translation elongation factor, mitochondrial
• Gene symbol: TUFM
• Synonyms (NCBI Gene): COXPD4, EF-TuMT, EFTU, P43
• Disease Acronyms (UniProt): COXPD4
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146326033	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs863224246	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050010	hsa-miR-28-5p	CLASH	23622248
MIRT049214	hsa-miR-92a-3p	CLASH	23622248
MIRT045200	hsa-miR-186-5p	CLASH	23622248
MIRT043186	hsa-miR-324-5p	CLASH	23622248
MIRT043186	hsa-miR-324-5p	CLASH	23622248
MIRT042804	hsa-miR-339-5p	CLASH	23622248
MIRT039619	hsa-miR-615-3p	CLASH	23622248
MIRT039619	hsa-miR-615-3p	CLASH	23622248
MIRT052711	hsa-miR-1260b	CLASH	23622248
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT1463664	hsa-miR-3130-3p	CLIP-seq
MIRT1463665	hsa-miR-4468	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT1463668	hsa-miR-4663	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT1463672	hsa-miR-4756-3p	CLIP-seq
MIRT1463673	hsa-miR-4793-3p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT1923054	hsa-miR-2355-3p	CLIP-seq
MIRT1923055	hsa-miR-3909	CLIP-seq
MIRT1923056	hsa-miR-4646-3p	CLIP-seq
MIRT1923057	hsa-miR-676	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq
MIRT2139399	hsa-miR-1233	CLIP-seq
MIRT2139400	hsa-miR-1243	CLIP-seq
MIRT2139401	hsa-miR-1245b-5p	CLIP-seq
MIRT2139402	hsa-miR-1301	CLIP-seq
MIRT1463661	hsa-miR-1909	CLIP-seq
MIRT1463662	hsa-miR-1972	CLIP-seq
MIRT2360121	hsa-miR-22	CLIP-seq
MIRT1463663	hsa-miR-2355-5p	CLIP-seq
MIRT2139403	hsa-miR-3142	CLIP-seq
MIRT2139404	hsa-miR-3654	CLIP-seq
MIRT2360122	hsa-miR-3940-5p	CLIP-seq
MIRT2360123	hsa-miR-4290	CLIP-seq
MIRT2139405	hsa-miR-4419a	CLIP-seq
MIRT2139406	hsa-miR-4436b-3p	CLIP-seq
MIRT2139407	hsa-miR-4459	CLIP-seq
MIRT2360124	hsa-miR-4507	CLIP-seq
MIRT2139408	hsa-miR-4510	CLIP-seq
MIRT1463666	hsa-miR-4514	CLIP-seq
MIRT1463667	hsa-miR-4645-5p	CLIP-seq
MIRT2139409	hsa-miR-4650-5p	CLIP-seq
MIRT2139410	hsa-miR-4659a-5p	CLIP-seq
MIRT2139411	hsa-miR-4659b-5p	CLIP-seq
MIRT1463669	hsa-miR-4673	CLIP-seq
MIRT1463670	hsa-miR-4692	CLIP-seq
MIRT2139412	hsa-miR-4712-3p	CLIP-seq
MIRT2139413	hsa-miR-4722-5p	CLIP-seq
MIRT2360125	hsa-miR-4731-5p	CLIP-seq
MIRT1463671	hsa-miR-4755-3p	CLIP-seq
MIRT2139414	hsa-miR-4761-3p	CLIP-seq
MIRT2139415	hsa-miR-4779	CLIP-seq
MIRT2139416	hsa-miR-4794	CLIP-seq
MIRT2139417	hsa-miR-5047	CLIP-seq
MIRT2139418	hsa-miR-671-5p	CLIP-seq
MIRT1463674	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003746	Function	Translation elongation factor activity	IBA	21873635
GO:0003746	Function	Translation elongation factor activity	IDA	9332382
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	11741979, 25416956, 28611246, 31515488
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	9332382
GO:0006414	Process	Translational elongation	IBA	21873635
GO:0006414	Process	Translational elongation	IDA	9332382
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070125	Process	Mitochondrial translational elongation	IBA	21873635

Other IDs

• MIM: 602389
• HGNC: 12420
• e!Ensembl: ENSG00000178952

Protein

• UniProt ID: P49411
• Protein name: Elongation factor Tu, mitochondrial (EF-Tu) (EC 3.6.5.3) (P43)
• Protein function: GTP hydrolase that promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Also plays a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria a
• PDB: 7A5G, 7O9K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	55 → 249	Elongation factor Tu GTP binding domain	Domain
  PF03144	GTP_EFTU_D2	272 → 341	Elongation factor Tu domain 2	Domain
  PF03143	GTP_EFTU_D3	345 → 440	Elongation factor Tu C-terminal domain	Domain

• Sequence:

  MAAATLLRATPHFSGLAAGRTFLLQGLLRLLKAPALPLLCRGLAVEAKKTYVRDKPHVNV
  GTIGHVDHGKTTLTAAITKILAEGGGAKFKKYEEIDNAPEERARGITINAAHVEYSTAAR
  HYAHTDCPGHADYVKNMITGTAPLDGCILVVAANDGPMPQTREHLLLARQIGVEHVVVYV
  NKADAVQDSEMVELVELEIRELLTEFGYKGEETPVIVGSALCALEGRDPELGLKSVQKLL
  DAVDTYIPVPARDLEKPFLLPVEAVYSVPGRGTVVTGTLERGILKKGDECELLGHSKNIR
  TVVTGIEMFHKSLERAEAGDNLGALVRGLKREDLRRGLVMVKPGSIKPHQKVEAQVYILS
  KEEGGRHKPFVSHFMPVMFSLTWDMACRIILPPEKELAMPGEDLKFNLILRQPMILEKGQ
  RFTLRDGNRTIGTGLVTNTLAMTEEEKNIKWG

• Sequence length: 452

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	Combined Oxidative Phosphorylation Deficiency 4, Combined oxidative phosphorylation defect type 4	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	17160893, 26741492, 28132884, 27604308
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	15986332
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease term	Disease name	Evidence	References	Source
Metabolic Syndrome	Metabolic Syndrome			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Hypogonadism	Hypogonadism			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	28449687
Adenocarcinoma of Lung	Associate	38213773
Adenoma	Stimulate	28449687
Alzheimer Disease	Associate	34700051
Brain Diseases	Associate	17160893
Cholangiocarcinoma	Associate	33299012
Chromosome Aberrations	Associate	17160893
Colorectal Neoplasms	Associate	28449687
Congenital Abnormalities	Associate	17033963
Cytochrome c Oxidase Deficiency	Associate	28132884
Diabetes Mellitus Type 2	Associate	39280009
Epilepsy Familial Mesial Temporal Lobe	Associate	28485803
Hypertensive Retinopathy	Stimulate	39280009
Infantile Epileptic Dyskinetic Encephalopathy	Associate	17160893
Inflammatory Bowel Diseases	Associate	24956270
Kidney Diseases	Stimulate	39280009
Leukodystrophy Metachromatic	Associate	17160893, 28132884
Leukoencephalopathies	Associate	28132884
Mitochondrial Diseases	Associate	21169334, 25735936
Neoplasms	Associate	23104437, 28449687
Nervous System Diseases	Associate	39280009
Obesity	Associate	26449484
Polymicrogyria	Associate	17160893, 28132884
Polyposis Syndrome Hereditary Mixed 1	Stimulate	28449687
Pulmonary Disease Chronic Obstructive	Associate	26771213
Retinal Dysplasia	Associate	28449687
Squamous Cell Carcinoma of Head and Neck	Associate	26876213