TKT (transketolase)

Gene

• Entrez ID: 7086
• Gene name: Transketolase
• Gene symbol: TKT
• Synonyms (NCBI Gene): HEL-S-48, HEL107, SDDHD, TK, TKT1
• Disease Acronyms (UniProt): SDDHD
• Chromosome: 3
• Chromosome location: 3p21.1
• Summary: This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781905246	->CAGAAGATAAGGAGGTAG,NNNNNNNNNNNNNNNNNN	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel
rs782092363	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs868953318	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024031	hsa-miR-1-3p	Proteomics	18668040
MIRT050103	hsa-miR-26a-5p	CLASH	23622248
MIRT049252	hsa-miR-92a-3p	CLASH	23622248
MIRT047913	hsa-miR-30c-5p	CLASH	23622248
MIRT045530	hsa-miR-149-5p	CLASH	23622248
MIRT043397	hsa-miR-331-3p	CLASH	23622248
MIRT041785	hsa-miR-484	CLASH	23622248
MIRT038566	hsa-miR-106b-3p	CLASH	23622248
MIRT437465	hsa-miR-206	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT024031	hsa-miR-1-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT1426005	hsa-miR-1288	CLIP-seq
MIRT1426006	hsa-miR-1299	CLIP-seq
MIRT1426007	hsa-miR-1302	CLIP-seq
MIRT1426008	hsa-miR-1343	CLIP-seq
MIRT1426009	hsa-miR-1827	CLIP-seq
MIRT1426010	hsa-miR-298	CLIP-seq
MIRT1426011	hsa-miR-3122	CLIP-seq
MIRT1426012	hsa-miR-3158-5p	CLIP-seq
MIRT1426013	hsa-miR-3168	CLIP-seq
MIRT1426014	hsa-miR-3199	CLIP-seq
MIRT1426015	hsa-miR-3612	CLIP-seq
MIRT1426016	hsa-miR-361-3p	CLIP-seq
MIRT1426017	hsa-miR-3616-3p	CLIP-seq
MIRT1426018	hsa-miR-3689a-3p	CLIP-seq
MIRT1426019	hsa-miR-3689c	CLIP-seq
MIRT1426020	hsa-miR-3689d	CLIP-seq
MIRT1426021	hsa-miR-3913-5p	CLIP-seq
MIRT1426022	hsa-miR-4290	CLIP-seq
MIRT1426023	hsa-miR-4298	CLIP-seq
MIRT1426024	hsa-miR-4418	CLIP-seq
MIRT1426025	hsa-miR-4436b-3p	CLIP-seq
MIRT1426026	hsa-miR-4504	CLIP-seq
MIRT1426027	hsa-miR-4640-5p	CLIP-seq
MIRT1426028	hsa-miR-4652-5p	CLIP-seq
MIRT1426029	hsa-miR-4667-3p	CLIP-seq
MIRT1426030	hsa-miR-4687-5p	CLIP-seq
MIRT1426031	hsa-miR-4721	CLIP-seq
MIRT1426032	hsa-miR-4726-3p	CLIP-seq
MIRT1426033	hsa-miR-4726-5p	CLIP-seq
MIRT1426034	hsa-miR-4728-5p	CLIP-seq
MIRT1426035	hsa-miR-4778-5p	CLIP-seq
MIRT1426036	hsa-miR-4782-5p	CLIP-seq
MIRT1426037	hsa-miR-4790-3p	CLIP-seq
MIRT1426038	hsa-miR-509-3-5p	CLIP-seq
MIRT1426039	hsa-miR-509-5p	CLIP-seq
MIRT1426040	hsa-miR-516b	CLIP-seq
MIRT1426041	hsa-miR-542-3p	CLIP-seq
MIRT1426042	hsa-miR-650	CLIP-seq
MIRT1426043	hsa-miR-885-3p	CLIP-seq
MIRT2127667	hsa-miR-3663-3p	CLIP-seq
MIRT2349399	hsa-miR-1	CLIP-seq
MIRT2349400	hsa-miR-216a	CLIP-seq
MIRT2349401	hsa-miR-4758-3p	CLIP-seq
MIRT2349402	hsa-miR-485-3p	CLIP-seq
MIRT2349403	hsa-miR-613	CLIP-seq
MIRT2461489	hsa-miR-2278	CLIP-seq
MIRT2461490	hsa-miR-3914	CLIP-seq
MIRT2461491	hsa-miR-4508	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq
MIRT2642728	hsa-miR-1225-3p	CLIP-seq
MIRT2642729	hsa-miR-1233	CLIP-seq
MIRT2642730	hsa-miR-1266	CLIP-seq
MIRT2642731	hsa-miR-1294	CLIP-seq
MIRT2642732	hsa-miR-15a	CLIP-seq
MIRT2642733	hsa-miR-15b	CLIP-seq
MIRT2642734	hsa-miR-16	CLIP-seq
MIRT1426009	hsa-miR-1827	CLIP-seq
MIRT2642735	hsa-miR-1909	CLIP-seq
MIRT2642736	hsa-miR-195	CLIP-seq
MIRT2642737	hsa-miR-214	CLIP-seq
MIRT2642738	hsa-miR-2355-5p	CLIP-seq
MIRT2642739	hsa-miR-2682	CLIP-seq
MIRT2642740	hsa-miR-3127-5p	CLIP-seq
MIRT2642741	hsa-miR-3175	CLIP-seq
MIRT1426017	hsa-miR-3616-3p	CLIP-seq
MIRT2642742	hsa-miR-3619-5p	CLIP-seq
MIRT2642743	hsa-miR-3918	CLIP-seq
MIRT2642744	hsa-miR-424	CLIP-seq
MIRT2642745	hsa-miR-4291	CLIP-seq
MIRT2642746	hsa-miR-4302	CLIP-seq
MIRT2642747	hsa-miR-4316	CLIP-seq
MIRT2642748	hsa-miR-4318	CLIP-seq
MIRT1426025	hsa-miR-4436b-3p	CLIP-seq
MIRT2642749	hsa-miR-449c	CLIP-seq
MIRT2642750	hsa-miR-4518	CLIP-seq
MIRT2642751	hsa-miR-4519	CLIP-seq
MIRT1426027	hsa-miR-4640-5p	CLIP-seq
MIRT2642752	hsa-miR-4663	CLIP-seq
MIRT2642753	hsa-miR-4716-3p	CLIP-seq
MIRT1426031	hsa-miR-4721	CLIP-seq
MIRT2642754	hsa-miR-4723-5p	CLIP-seq
MIRT1426033	hsa-miR-4726-5p	CLIP-seq
MIRT2642755	hsa-miR-497	CLIP-seq
MIRT2642756	hsa-miR-539	CLIP-seq
MIRT2642757	hsa-miR-761	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq
MIRT2642728	hsa-miR-1225-3p	CLIP-seq
MIRT2642729	hsa-miR-1233	CLIP-seq
MIRT2642732	hsa-miR-15a	CLIP-seq
MIRT2642733	hsa-miR-15b	CLIP-seq
MIRT2642734	hsa-miR-16	CLIP-seq
MIRT2642735	hsa-miR-1909	CLIP-seq
MIRT2642736	hsa-miR-195	CLIP-seq
MIRT2642737	hsa-miR-214	CLIP-seq
MIRT2461489	hsa-miR-2278	CLIP-seq
MIRT2642741	hsa-miR-3175	CLIP-seq
MIRT2642742	hsa-miR-3619-5p	CLIP-seq
MIRT2642744	hsa-miR-424	CLIP-seq
MIRT2642748	hsa-miR-4318	CLIP-seq
MIRT2461491	hsa-miR-4508	CLIP-seq
MIRT2642752	hsa-miR-4663	CLIP-seq
MIRT2642753	hsa-miR-4716-3p	CLIP-seq
MIRT2642754	hsa-miR-4723-5p	CLIP-seq
MIRT2642755	hsa-miR-497	CLIP-seq
MIRT2642756	hsa-miR-539	CLIP-seq
MIRT2642757	hsa-miR-761	CLIP-seq
MIRT2461492	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	9611778
GO:0004802	Function	Transketolase activity	IBA	21873635
GO:0004802	Function	Transketolase activity	IDA	8419340, 9357955, 9611778, 20667822
GO:0005509	Function	Calcium ion binding	IDA	20667822
GO:0005515	Function	Protein binding	IPI	21044950
GO:0005654	Component	Nucleoplasm	IDA
GO:0005777	Component	Peroxisome	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005999	Process	Xylulose biosynthetic process	TAS
GO:0006098	Process	Pentose-phosphate shunt	IDA	20667822
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	IBA	21873635
GO:0009052	Process	Pentose-phosphate shunt, non-oxidative branch	NAS	9357955
GO:0016604	Component	Nuclear body	IDA
GO:0030976	Function	Thiamine pyrophosphate binding	IBA	21873635
GO:0031982	Component	Vesicle	HDA	19190083
GO:0040008	Process	Regulation of growth	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	9357955, 20667822
GO:0046166	Process	Glyceraldehyde-3-phosphate biosynthetic process	IDA	9611778
GO:0046390	Process	Ribose phosphate biosynthetic process	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

Other IDs

• MIM: 606781
• HGNC: 11834
• e!Ensembl: ENSG00000163931

Protein

• UniProt ID: P29401
• Protein name: Transketolase (TK) (EC 2.2.1.1)
• Protein function: Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate.
• PDB: 3MOS, 3OOY, 4KXU, 4KXV, 4KXW, 4KXX, 4KXY, 6HA3, 6HAD, 6RJB, 8WA8, 8WA9, 8WAA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00456	Transketolase_N	14 → 283	Transketolase, thiamine diphosphate binding domain	Domain
  PF02779	Transket_pyr	313 → 478	Transketolase, pyrimidine binding domain	Domain
  PF02780	Transketolase_C	490 → 612	Transketolase, C-terminal domain	Domain

• Sequence:

  MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKS
  QDPRNPHNDRFVLSKGHAAPILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDV
  ATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSEGSVWEAMAFASIYKLDNLVA
  ILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAKHQPTAIIA
  KTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIAN
  IRMPSLPSYKVGDKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFI
  ECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQIRMAAISESNINLCGSHCGVS
  IGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRTSRPENAII
  YNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLHEALAAAELLKKEKINIRVLDPFTIKPL
  DRKLILDSARATKGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAE
  LLKMFGIDRDAIAQAVRGLITKA

• Sequence length: 623

Pathways

KEGG:

Pentose phosphate pathway
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids

Reactome:

Insulin effects increased synthesis of Xylulose-5-Phosphate
Pentose phosphate pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Transketolase deficiency	Transketolase deficiency	rs782092363, rs868953318, rs781905246
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Brugada Syndrome	Associate	32490690
Carcinoma Hepatocellular	Associate	24203292, 29271183, 30659097, 30971297, 31545220, 35110545
Cataract	Associate	27259054
Cerebral Infarction	Associate	26352407
Cholangiocarcinoma	Associate	29271183
Colorectal Neoplasms	Associate	16465194, 36253417, 37644393
Colorectal Neoplasms	Stimulate	35110545
Death Sudden Cardiac	Associate	32490690
Developmental Disabilities	Associate	27259054
Diabetes Mellitus	Associate	30646877
Diabetic Neuropathies	Associate	24114639
Diarrhea	Associate	27259054
Facial Nerve Diseases	Associate	24114639
Glioma	Associate	39792560
Growth Disorders	Associate	27259054
Head and Neck Neoplasms	Associate	33859744
Heart Defects Congenital	Associate	27259054
Hemolytic Uremic Syndrome	Inhibit	27198804
Hyperglycemia	Associate	18633117
Hypertension Pulmonary	Associate	26352407
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	28962592
Kidney Failure Chronic	Inhibit	27198804
Korsakoff Syndrome	Inhibit	27259054
Korsakoff Syndrome	Associate	3558815
Leukemia	Associate	35408935
Medulloblastoma	Stimulate	39251709
Metabolism Inborn Errors	Associate	3558815
Mouth Neoplasms	Associate	24666435
Nasopharyngeal Carcinoma	Associate	18296915
Neoplasm Invasiveness	Associate	31545220
Neoplasm Metastasis	Associate	16465194, 35110545
Neoplasm Metastasis	Stimulate	30971297
Neoplasms	Associate	16465194, 20884743, 24666435, 30646877, 35110545
Nervous System Diseases	Associate	24114639
Osteoarthritis	Associate	33302647
Ovarian Neoplasms	Associate	26884841
Pancreatic Neoplasms	Associate	20035555
Pleural Effusion Malignant	Associate	20884743
Prostatic Neoplasms	Associate	30357756
Prostatitis	Associate	8650201
Squamous Cell Carcinoma of Head and Neck	Associate	33859744
Syncope	Associate	32490690
Synovitis	Associate	33302647
Thiamine Deficiency	Inhibit	31726874
Thiamine Deficiency	Associate	3558815
Thiamine responsive megaloblastic anemia syndrome	Associate	12893755
Uterine Cervical Neoplasms	Associate	19331662, 30625128
Vasculitis	Associate	28962592