TERC (telomerase RNA component)

Gene

• Entrez ID: 7012
• Gene name: Telomerase RNA component
• Gene symbol: TERC
• Synonyms (NCBI Gene): DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR
• Chromosome: 3
• Chromosome location: 3q26.2
• Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000332	Function	Template for synthesis of G-rich strand of telomere DNA activity	IDA	9398860, 17940095, 19701182
GO:0000333	Component	Telomerase catalytic core complex	IDA	9398860, 9443919, 18082603, 19701182
GO:0000333	Component	Telomerase catalytic core complex	IMP	11313459
GO:0000781	Component	Chromosome, telomeric region	IMP	26950371
GO:0003720	Function	Telomerase activity	IDA	9398860, 9443919, 16507993, 17940095, 18082603
GO:0003720	Function	Telomerase activity	TAS	23474713
GO:0003721	Function	Telomerase RNA reverse transcriptase activity	IDA	19701182
GO:0003721	Function	Telomerase RNA reverse transcriptase activity	IMP	11313459
GO:0003964	Function	RNA-directed DNA polymerase activity	IDA	19701182
GO:0005515	Function	Protein binding	IPI	10757788, 15857955, 17940095, 18082603, 20351177, 22527283
GO:0005697	Component	Telomerase holoenzyme complex	IC	16507993
GO:0005697	Component	Telomerase holoenzyme complex	IPI	19701182
GO:0005737	Component	Cytoplasm	IMP	26950371
GO:0007004	Process	Telomere maintenance via telomerase	IDA	9443919, 17940095, 19701182
GO:0015030	Component	Cajal body	IDA	26950371
GO:0015030	Component	Cajal body	IMP	25467444
GO:0044877	Function	Protein-containing complex binding	IPI	15824061
GO:0070182	Function	DNA polymerase binding	IPI	16507993, 17940095, 18082603, 19701182, 20351177
GO:0071456	Process	Cellular response to hypoxia	IMP	11313459
GO:0071897	Process	DNA biosynthetic process	IDA	19701182
GO:0071987	Function	WD40-repeat domain binding	IPI	25467444
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	10757788, 18082603
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:2000773	Process	Negative regulation of cellular senescence	IMP	11313459

Other IDs

• MIM: 602322
• HGNC: 11727
• e!Ensembl: ENSG00000270141

Pathways

KEGG:

Pathways in cancer
Hepatocellular carcinoma
Gastric cancer

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Aplastic anemia, idiopathic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	12090986
Aplastic anemia	Aplastic Anemia, Idiopathic aplastic anemia	rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992, rs113993994, rs113993998, rs199422298, rs199422305, rs199422273, rs199422275, rs199422276, rs199422259, rs199422279, rs199422280, rs199422281, rs199422283, rs587780100, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs730881864, rs730881857, rs730881850, rs730881839, rs142301194, rs786201745, rs764884516, rs786202490, rs768378152, rs574673404, rs767215758, rs786205135, rs762664474, rs751161742, rs373730800, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs766044684, rs876659521, rs876659592, rs113993990, rs751247865, rs1057517262, rs1057516668, rs1057516611, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1060503467, rs1064795816, rs1064793210, rs1131691842, rs772797192, rs751567476, rs780235686, rs1554562083, rs578092914, rs147035858, rs189650890, rs759232053, rs1554558613, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1178384498, rs1198614767, rs1554558449, rs1554568427, rs752858869, rs147462227, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs768849283, rs1563578540, rs1563526747, rs1563559078, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs776571416, rs200430442, rs776299562, rs1584439050, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16051514
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
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
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Dyskeratosis congenita	Dyskeratosis Congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, Dyskeratosis congenita	rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304, rs121918665, rs121918666, rs199422294, rs199422263, rs281865549, rs199473674, rs202138550, rs387907080, rs373905859, rs199473677, rs199473676, rs199473682, rs199473673, rs387907153, rs387907154, rs387907249, rs863223324, rs199422311, rs199422315, rs199422314, rs199422316, rs121912289, rs121912297, rs1554041299, rs199422297, rs199422298, rs199422305, rs199422255, rs199422269, rs199422274, rs199422278, rs199422257, rs199422262, rs199422264, rs199422266, rs199422267, rs199473679, rs397514660, rs281865547, rs201540674, rs370343781, rs398123017, rs398123048, rs398123051, rs373740199, rs398123052, rs786200999, rs756132866, rs786201001, rs797045144, rs776744306, rs863225129, rs886039438, rs1553915577, rs1553915591, rs745590324, rs942538351, rs1555512179, rs1444923772, rs1555899096, rs1555903332, rs1555814400, rs1553915580, rs770066110, rs1553915590, rs80224512, rs1555899111, rs200609323, rs1196342305, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812228, rs1555812480, rs1421904176, rs1555811386, rs1555813123, rs1161373315, rs1555901832, rs961593162, rs1555813144, rs1415449695, rs1555814334, rs980695424, rs778734749, rs1555901000, rs780546933, rs1263776141, rs377024903, rs1555811966, rs1555812178, rs752833281, rs1555812834, rs1555814044, rs377461417, rs1567599296, rs764019241, rs1449687529, rs1569558474, rs767991627, rs1306444586, rs1596812454, rs915854031, rs1597422298, rs938938578, rs1597374251, rs745467709, rs1461036243, rs62637613, rs769617113, rs773120259, rs372031509	28297620, 12090986, 11574891, 17785587, 12525685, 22285015, 22341970
Dyskeratosis congenita, x-linked	X-Linked Dyskeratosis Congenita	rs121912293, rs137854489, rs121912292, rs121912294, rs121912295, rs121912288, rs1603429348, rs121912304, rs28936072, rs137854491, rs1569558616, rs199422252, rs121912289, rs121912297, rs1114167422, rs1557265435, rs1557264102	17785587
Hoyeraal-hreidarsson syndrome	HOYERAAL-HREIDARSSON SYNDROME	rs28936072	12525685
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Liver failure	Liver Failure	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
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	31326317
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	31326317
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Neutropenia	Neutropenia	rs879253882
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	16520278
Pulmonary fibrosis	Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Idiopathic pulmonary fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	18753630, 23535734, 17392301, 17460043
Pulmonary fibrosis and/or bone marrow failure	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2	rs199422277, rs199422265, rs199422270, rs199422268, rs1777959964, rs121918666, rs199422300, rs199422309, rs199422294, rs111576740, rs387907247, rs201159197, rs387907249, rs387907250, rs2108183105, rs199422305, rs199422274, rs398123017, rs751381953, rs876661305, rs878853260, rs863225053, rs776744306, rs1555811762, rs1554043041, rs1553915580, rs1553915612, rs1553915617, rs1553915621, rs1554038539, rs1317757765, rs1579598699, rs1971361795, rs1469272825	29483670, 12090986, 17392301, 27069254
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Myeloid Leukemia	acute myeloid leukemia	KAT2A inhibition demonstrated anti-AML activity by inducing myeloid differentiation and apoptosis.		GenCC, CBGDA
Pulmonary Fibrosis	Pulmonary Fibrosis			GWAS
Melanoma	Melanoma	SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells.		GWAS, CBGDA
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	15823123, 16847471
Adenoma	Associate	9914788
Alternating hemiplegia of childhood	Associate	18414473, 28082393
Alveolitis Extrinsic Allergic	Associate	34996848
Alzheimer Disease	Associate	15238429
Anemia Aplastic	Associate	12676774, 15319288, 15814878, 15886322, 17640862, 21436073, 21931702
Aneuploidy	Associate	24948335
Arrhythmias Cardiac	Associate	29344960
Atypical Squamous Cells of the Cervix	Associate	23408758
Bone Marrow Failure Disorders	Associate	12676774, 15886322, 19936245, 21436073, 21931702, 22507770, 24948335
Breast Neoplasms	Associate	23677713, 25135691, 28424414, 30397354
Carcinogenesis	Associate	11092980, 20813962, 9736034, 9914788
Carcinogenesis	Stimulate	20864639
Carcinoma Hepatocellular	Associate	10674027, 24020493, 35682861, 35894385
Carcinoma Non Small Cell Lung	Associate	25806711
Carcinoma Squamous Cell	Associate	20009881, 25806711
Cerebral Infarction	Associate	28057933
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	30931479
Colorectal Neoplasms	Associate	15682468, 21708826
Coronary Disease	Associate	24349443, 27707805, 36221106
Death	Associate	33763035
Diabetes Mellitus Type 2	Stimulate	31294790
Diabetes Mellitus Type 2	Associate	32296102
Diffuse Intrinsic Pontine Glioma	Associate	24477622
Disease	Associate	35038823
Drug Related Side Effects and Adverse Reactions	Stimulate	35894385
Dyskeratosis Congenita	Associate	12676774, 12769858, 14602909, 15238429, 15319288, 15886322, 16332973, 17468339, 17507419, 17640862, 17875000, 18931339, 19036115, 19558498, 21436073, 21536674, 21931702, 22341970, 22507770, 26859482, 30728146, 30931479, 32559291, 32744739, 36018809
Dyskeratosis Congenita Autosomal Dominant	Associate	12676774, 15319288, 16284252, 17392301, 17640862, 17785587, 17875000, 18042801, 19835419
Dystonic Disorders	Associate	18635888
Endometrial Hyperplasia	Associate	15823123
Essential Hypertension	Associate	32922179
Fibrosis	Associate	24020493
Genetic Diseases X Linked	Associate	30931479
Genetic Predisposition to Disease	Associate	24948335
Glioma	Associate	24908248, 26646793
Heart Failure	Associate	33763035
Helicobacter Infections	Stimulate	11092980
Helicobacter Infections	Associate	9119736
Hematologic Neoplasms	Associate	20022961
Hemoglobinuria Paroxysmal	Associate	12676774
Idiopathic Interstitial Pneumonias	Associate	18635888
Idiopathic Pulmonary Fibrosis	Associate	17392301, 18753630, 21436073, 21543794, 27836952, 28066036, 29742735
Immunologic Deficiency Syndromes	Associate	30770239
Inflammation	Associate	27707805
Inflammation	Stimulate	31294790
Intestinal Diseases	Associate	9119736
Kidney Neoplasms	Associate	16820866
Laryngeal Neoplasms	Associate	22463766
Leukemia	Associate	17640862
Leukemia Lymphocytic Chronic B Cell	Associate	23922990, 24641422, 27197291
Leukemia Myeloid Acute	Associate	27632567
Leukocyte Disorders	Associate	31388112
Lichen Planus	Associate	12147655, 18712976
Lichen Planus Oral	Associate	18712976
Liposarcoma	Associate	18414473
Liver Cirrhosis	Associate	22507770
Liver Failure	Associate	19936245
Lung Diseases	Associate	17640862
Lung Diseases Interstitial	Associate	27540018
Lymphopenia	Associate	15238429
Melanoma	Stimulate	10655201
Melanoma	Associate	24129253
Mental Disorders	Associate	21829518
Mouth Diseases	Associate	19880826
Multiple Sclerosis	Associate	31294790
Myelodysplastic Syndromes	Associate	12676774, 22533337, 24948335
Neoplasm Invasiveness	Associate	15793301
Neoplasm Invasiveness	Stimulate	19880826
Neoplasm Metastasis	Associate	20864639
Neoplasms	Associate	10544251, 10655201, 10674027, 15656906, 16331888, 17283167, 19880826, 20009881, 20813962, 21931702, 22463766, 24641422, 24664581, 31311806, 31611308, 34436017, 36006930, 39581398, 9119736, 9155690, 9914788
Neoplasms	Stimulate	16847471
Neoplasms Squamous Cell	Stimulate	20683395, 22500694
Neural Tube Defects	Associate	12676774, 17640862
Optic Atrophy Hereditary Leber	Associate	36143917
Osteogenesis Imperfecta Type VII	Associate	30371886
Osteoporosis	Associate	20885959, 32016954
Ovarian Neoplasms	Associate	11238060, 12496479, 15477760
Pancreatic Neoplasms	Associate	12918126
Precancerous Conditions	Associate	22463766, 22901172
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15827550, 22533337
Prostatic Neoplasms	Associate	31611308, 33303959
Pulmonary Fibrosis	Associate	17392301, 17640862, 19936245, 20022961, 22507770, 27836952, 30930056
Renal Insufficiency	Associate	15814878
Retinal Dysplasia	Associate	19880826
Rufous oculocutaneous albinism	Stimulate	20683395
Squamous Cell Carcinoma of Head and Neck	Associate	26175310, 27606879
Squamous Intraepithelial Lesions	Associate	14507648, 20009881, 23408758
Stomach Neoplasms	Associate	11092980, 12046065, 9119736, 9914776
Telomeric 22q13 Monosomy Syndrome	Associate	22323451, 26482878, 27482890, 30371886, 34565437, 34817067
Thyroid Neoplasms	Associate	28195142
Urinary Bladder Neoplasms	Associate	20920335, 30120764
Urinary Bladder Neoplasms	Stimulate	35127956
Uterine Cervical Diseases	Associate	20009881
Uterine Cervical Dysplasia	Associate	14507648, 19930867, 20009881, 20683395, 20864639
Uterine Cervical Neoplasms	Associate	15793301, 19880826, 20683395, 22901172, 9736034
Uterine Cervicitis	Associate	20864639