MALAT1 (metastasis associated lung adenocarcinoma transcript 1)

Gene

• Entrez ID: 378938
• Gene name: Metastasis associated lung adenocarcinoma transcript 1
• Gene symbol: MALAT1
• Synonyms (NCBI Gene): HCN, LINC00047, NCRNA00047, NEAT2, PRO2853
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3` end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabiliz

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054196	hsa-miR-9-5p	Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Next Generation Sequencing (NGS), qRT-PCR, Western blot	23985560
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	27693631
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	27693631
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	27693631
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	27693631
MIRT732335	hsa-miR-22-3p	Flow, Gluc reporter assay, GUS reporter assay, HITS-CLIP, Immunoblot, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunoprecipitaion	26364720
MIRT732335	hsa-miR-22-3p	Flow, Gluc reporter assay, GUS reporter assay, HITS-CLIP, Immunoblot, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunoprecipitaion	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT732335	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, RNA immunoprecipitation assay (RIP)	26364720
MIRT734182	hsa-miR-204-5p	H1299"	27294002
MIRT734182	hsa-miR-204-5p	H1299"	27294002
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	26461224
MIRT731897	hsa-miR-200c-3p	Luciferase reporter assay, qRT-PCR	26461224
MIRT733856	hsa-miR-497-5p	Flow cytometry, Immunocytochemistry (ICC), Immunohistochemistry (IHC), Luciferase reporter assay, RNA-seq, qRT-PCR, Western blotting	32393784
MIRT734182	hsa-miR-204-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	33327804
MIRT732335	hsa-miR-22-3p	Immunoprecipitaion (IP), Luciferase reporter assay, Western blotting	33312345
MIRT734346	hsa-miR-101-5p	ELISA	34200314
MIRT735557	hsa-miR-146a-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	33030583
MIRT735558	hsa-miR-216b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	33030583
MIRT736791	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR	32349546
MIRT737153	hsa-miR-3064-5p	Luciferase reporter assay, Immunoprecipitaion (IP), qRT-PCR, In situ hybridization	34012919
MIRT737544	hsa-miR-497-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), RNA-seq, qRT-PCR, Flow cytometry	32393784

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	23985560
GO:0071456	Process	Cellular response to hypoxia	IMP	29605300
GO:0110024	Process	Positive regulation of cardiac muscle myoblast proliferation	IMP	29605300
GO:2000147	Process	Positive regulation of cell motility	IEA

Other IDs

• MIM: 607924
• HGNC: 29665
• e!Ensembl: ENSG00000251562

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	29912916, 30349115
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29912916, 30349115
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25538231
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	29119387
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	29912916, 30349115

Unknown
Disease term	Disease name	Evidence	References	Source
Glaucoma	Glaucoma			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Inhibit	30173780, 30848022
Abortion Spontaneous	Associate	30173780
Abortion Spontaneous	Inhibit	30848022
Acute Kidney Injury	Stimulate	34240756
Acute Lung Injury	Associate	31871512
Adenocarcinoma	Associate	33318305, 38203269
Adenocarcinoma of Lung	Associate	20937273, 28253859
Adenoma	Associate	35887000
Adenomatous Polyps	Associate	34200314
Alcoholism	Associate	33436407
Alzheimer Disease	Associate	29997370
Amyotrophic Lateral Sclerosis	Associate	33953791
Angina Pectoris	Stimulate	35831141
Angina Unstable	Stimulate	26364720
Angina Unstable	Associate	34609019
Angiomyolipoma	Associate	33208882
Aortic Aneurysm Thoracic	Associate	32655720
Arthritis Gouty	Associate	33677310
Arthritis Rheumatoid	Associate	31736958, 32909867, 39475402
Asthma	Associate	31924195, 32292999
Atherosclerosis	Associate	36552736
Autoimmune Diseases	Associate	35058920, 38085149
beta Thalassemia	Associate	30665334
Bipolar Disorder	Associate	35279108, 37761918
Blindness	Associate	40650203
Bone Diseases	Stimulate	39503766
Breast Neoplasms	Associate	19379481, 25431257, 26191181, 26917489, 27172249, 27250026, 28652379, 29683112, 30683807, 30874469, 31167784, 32190687, 32623440, 34019552, 34164906, 34278507, 34457116, 35410813, 36376369, 36401368, 36420706, 40329245
Breast Neoplasms	Stimulate	27191888
Breast Neoplasms	Inhibit	29912916
Bronchopulmonary Dysplasia	Associate	32397779
Burns	Associate	25844669
Calcinosis	Stimulate	37125614
Calcinosis Cutis	Stimulate	32728178
Capsule Opacification	Associate	31143769
Carcinogenesis	Associate	25600645, 32277655, 32993558, 34638541, 37812599
Carcinogenesis	Stimulate	28615056, 37548553
Carcinoma Ductal	Associate	30683807
Carcinoma Hepatocellular	Associate	17006932, 22493738, 24876753, 25431257, 26614531, 27782152, 28720061, 29170515, 29930469, 30249878, 30269516, 31350456, 32554864, 32626943, 32918630, 34185961, 34478876, 34957996, 35627262, 35706002, 36685103, 39259658
Carcinoma Hepatocellular	Stimulate	31028199, 31347327, 32733618
Carcinoma Neuroendocrine	Associate	34245124
Carcinoma Non Small Cell Lung	Associate	24313945, 25036876, 26884862, 31240979, 31293277, 31691525, 32141554, 35928715
Carcinoma Non Small Cell Lung	Stimulate	28121347, 37667226
Carcinoma Ovarian Epithelial	Associate	29693187
Carcinoma Ovarian Epithelial	Stimulate	34638541
Carcinoma Pancreatic Ductal	Associate	28701723, 30352575
Carcinoma Pancreatic Ductal	Stimulate	36093484
Carcinoma Renal Cell	Associate	22892601, 25480417, 25600645, 28338654, 29588438, 30622287, 32663095, 33208882, 35320950, 37103094, 37713833, 37919386
Carcinoma Squamous Cell	Associate	30683916, 35928715
Cardiomegaly	Inhibit	35726535
Cardiomyopathies	Associate	37238718
Cardiomyopathy Hypertrophic	Associate	34362365
Cardiovascular Diseases	Associate	28487970, 33660877, 35392816
Cataract	Stimulate	33274006
Cerebral Infarction	Associate	30305120, 32238151, 33750458
Chemical and Drug Induced Liver Injury	Associate	28993096
Choriocarcinoma	Associate	34538870
Chronic Periodontitis	Associate	33604388
Colonic Neoplasms	Associate	32727450
Colorectal Neoplasms	Associate	24244343, 25031737, 25431257, 25446987, 26887056, 29328404, 30205577, 30531836, 30797712, 31037832, 31097689, 31372165, 31733641, 32323831, 32468035, 33094859, 33414433, 35110552, 35887000, 36006421, 37067340, 37272875, 39768127
Colorectal Neoplasms	Stimulate	30154407, 33344634, 34200314
Congenital myasthenic syndrome ib	Associate	39768127
Corneal Endothelial Cell Loss	Associate	30762931
Coronary Artery Disease	Associate	30833365, 33331582, 35053285
Coronary Disease	Associate	29631611, 33660877, 35392816
COVID 19	Inhibit	33138195
COVID 19	Associate	34463043, 35007307, 36869729
COVID 19	Stimulate	35500644
Death	Associate	28253859, 32329872
Depressive Disorder	Associate	38281050
Depressive Disorder Major	Associate	38281050
Diabetes Gestational	Stimulate	32783409
Diabetes Mellitus	Associate	30833365, 32832561, 33274006, 37144653, 40650203
Diabetes Mellitus Type 2	Stimulate	30139387, 32832561, 33436407
Diabetic Nephropathies	Stimulate	30762931, 32832561
Diabetic Retinopathy	Associate	30468285, 30988072, 31986419, 32783409, 40650203
Drug Related Side Effects and Adverse Reactions	Associate	31045514
Dysequilibrium syndrome	Associate	29845247
Emanuel syndrome	Stimulate	27565001
Emanuel syndrome	Associate	30622287, 33208882
Endometrial Neoplasms	Stimulate	30324652
Endometrial Neoplasms	Associate	31880028
Endometriosis	Associate	30324652, 30500775, 31173276, 35126948
Epstein Barr Virus Infections	Associate	28467811
Esophageal Neoplasms	Associate	26493997
Esophageal Neoplasms	Stimulate	38203269
Esophageal Squamous Cell Carcinoma	Associate	26493997, 31116509
Fatigue Syndrome Chronic	Associate	30119681
Fatty Liver	Associate	34078383
Fetal Growth Retardation	Associate	39199376
Fibroma	Associate	27101025, 29309307, 31362756, 37165307
Fibrosis	Associate	28993096
Frontotemporal Lobar Degeneration	Associate	21358640
Gallbladder Neoplasms	Associate	24658096, 26649728
Gallbladder Neoplasms	Stimulate	27191262
Gastritis Atrophic	Associate	33333725
Gastrointestinal Stromal Tumors	Associate	30557328
Glaucoma	Associate	35028972
Glaucoma Open Angle	Associate	35028972
Glioblastoma	Associate	28187000, 28668966, 33245508, 36653583, 37144653
Glioblastoma	Stimulate	31479414
Glioma	Associate	25613066, 26649728, 27134488, 32196610, 34268963
Glomerulonephritis IGA	Stimulate	33936064
Graves Ophthalmopathy	Associate	37875358
Guillain Barre Syndrome	Inhibit	33708228
Heart Defects Congenital	Associate	29559566
Heart Diseases	Associate	29559566, 32384281, 35392816
Helicobacter Infections	Inhibit	38064387
Hematologic Neoplasms	Associate	27998273, 38255996
Hepatitis B	Stimulate	26614531
Hepatitis C	Stimulate	39259658
Hepatoblastoma	Associate	17006932
HIV Infections	Associate	26139386, 37255470
Hyperglycemia	Associate	28993096
Hypertension	Stimulate	32222724
Hypertension	Associate	35053285
Hypertensive Retinopathy	Associate	30468285
Hypertrophy	Associate	35726535
Hypopharyngeal Neoplasms	Associate	31792655
Hypoxia	Associate	29444873, 31075559, 32712618, 34019552, 39199376
Hypoxia	Stimulate	30324652, 31167784, 31347327, 32384281, 34240756
Hypoxia Brain	Stimulate	26848616
Ichthyosis X Linked	Associate	29904151
Idiopathic Pulmonary Fibrosis	Associate	32596346
Inflammation	Inhibit	31075559, 32783409
Inflammation	Associate	31173276, 31949884, 31986419, 32117213, 32238151, 32292999, 32309886, 32321151, 32397779, 33023605, 33677310, 33916321, 34651657, 35007307, 35392816, 35500644, 35680372, 36466827, 36552736, 40650203
Inflammation	Stimulate	35058920, 37255470
Inflammatory Bowel Diseases	Associate	38085149
Intestinal Pseudo Obstruction	Associate	38167433
Intracranial Aneurysm	Associate	33023605
Ischemic Stroke	Associate	33111743
Keratoacanthoma	Associate	25676557
Kidney Diseases	Associate	32832561
Kidney Neoplasms	Associate	25480417
Laryngeal Neoplasms	Associate	31792655
Leukemia	Associate	28713913
Leukemia Lymphocytic Chronic B Cell	Associate	37803049
Leukemia Lymphocytic Chronic B Cell	Stimulate	38255996
Leukemia Monocytic Acute	Stimulate	28713913
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	36934373
Leukemia Myeloid Acute	Associate	28713913, 30970520, 33382018, 35747989, 36812496
Liver Cirrhosis	Stimulate	26614531
Liver Cirrhosis	Associate	34651657
Liver Failure	Associate	32626943
Liver Neoplasms	Associate	35546353
Low Tension Glaucoma	Associate	34599867
Lung Diseases	Associate	28253859
Lung Diseases	Inhibit	36934373
Lung Injury	Associate	31871512
Lung Neoplasms	Associate	20937273, 24658096, 24742640, 25480417, 25613066, 26722461, 26884862, 27191888, 28253859, 28260796, 28615056, 33761627, 35928715, 36934373, 37667226
Lung Neoplasms	Stimulate	34257576
Lupus Erythematosus Systemic	Associate	32321151
Lymphatic Metastasis	Stimulate	25446987, 25481511, 26854446, 27191262, 33344634, 36813772, 38203269
Lymphatic Metastasis	Associate	26400521
Lymphoma B Cell	Associate	37803049
Lymphoma Follicular	Associate	37803049
Lymphoma Mantle Cell	Associate	27998273
Lymphoma Non Hodgkin	Associate	35008626
Lymphoma T Cell	Associate	28412742
Malformations of Cortical Development Group I	Associate	33750458
Melanoma	Associate	32993558
Melanoma Cutaneous Malignant	Associate	32993558, 36032150
Meningioma	Associate	32720739
Multiple Myeloma	Associate	25187517, 25369863, 26895470, 32714991
Multiple Myeloma	Stimulate	28770558, 39503766
Multiple Myeloma	Inhibit	29487387
Multiple Organ Failure	Associate	32309886
Multiple Sclerosis	Stimulate	30514825
Multiple Sclerosis Chronic Progressive	Stimulate	30514825
Mycosis Fungoides	Associate	31028199
Myocardial Infarction	Stimulate	31302423, 35831141
Myocardial Infarction	Associate	35392816
Myositis	Stimulate	28808260
Myositis Inclusion Body	Stimulate	28808260
Nasal Polyps	Associate	32047813
Nasopharyngeal Carcinoma	Associate	28467811, 28857668
Neoplasm Invasiveness	Associate	36685103
Neoplasm Metastasis	Associate	20937273, 24658096, 24742640, 25431257, 26133168, 26887056, 27649655, 28026123, 28252165, 28346809, 28535533, 28720061, 28857668, 29912916, 30352575, 30531836, 30793707, 30797712, 30874469, 31097689, 31167784, 31350456, 31637891, 31837057, 32141701, 32292999, 34200314, 34253686, 34478876, 35706002, 35887000, 35928715, 36006421, 36401368, 36813772, 39384895, 39768127
Neoplasm Metastasis	Stimulate	25446987, 25481511, 27250026, 27486823, 28388584, 32728178
Neoplasms	Associate	19379481, 23073843, 23717670, 24313945, 24658096, 24815433, 24952594, 25031737, 25480417, 25613066, 26133168, 26311052, 26400521, 26614531, 26848616, 26854446, 26871474, 26884862, 27250026, 27458156, 27872311, 28026123, 28128360, 28346809, 28430799, 28535533, 28550678, 28668966, 28770558, 28857668, 29459759, 29912916, 30003749, 30134013, 30154407, 30205577, 30269516, 30657561, 30683916, 31028199, 31077090, 31116509, 31167784, 31173276, 31189998, 31479414, 31587503, 31637891, 31640083, 31717552, 31792655, 31863590, 31880028, 31934916, 32196610, 32292999, 32626943, 32720739, 32879299, 32894536, 32918630, 33030666, 33135867, 33208882, 33318305, 33344634, 33824303, 34200314, 34253686, 34257576, 34308750, 34382766, 34478876, 34599867, 35300579, 35449454, 35534592, 35546353, 35682732, 35887000, 36653583, 36685103, 36812496, 36813772, 37165307, 37364126, 37713833, 37812599, 38255996, 39336798, 39596626, 39768127
Neoplasms	Stimulate	23555285, 25446987, 27172249, 27191262, 27998273, 30874469, 31650173, 34638541, 37667226, 39259658, 40674376
Neoplasms	Inhibit	25431257, 26191181, 27696303, 33235218, 33410422
Nerve Degeneration	Associate	33750458
Nervous System Diseases	Associate	35661455
Neuralgia	Associate	34323060
Neuroblastoma	Associate	24742640, 26848616, 28468579
No Reflow Phenomenon	Associate	35228564
Non alcoholic Fatty Liver Disease	Associate	28993096, 34078383, 36093484, 38115130
Non Muscle Invasive Bladder Neoplasms	Associate	30268126, 33235218, 39384895
Obesity	Associate	38167433
Optic Nerve Diseases	Associate	34599867
Osteoarthritis	Associate	31637891, 33021861, 33916321
Osteoglophonic dwarfism	Stimulate	33750458
Osteolysis	Stimulate	29328414
Osteoporosis	Associate	33021861
Osteosarcoma	Associate	25431257, 27458156, 27649655, 30793707, 30936265, 32728178, 35783190
Osteosarcoma	Stimulate	28346809, 28388584
Ovarian Neoplasms	Associate	29693187, 29949143, 30003749, 32433460, 34638541
Overweight	Associate	38167433
Pain Postoperative	Associate	34323060
Pancreatic Neoplasms	Associate	24815433, 25480417, 25481511, 26848980, 27028998, 34382766, 36406148
Pancreatic Neoplasms	Stimulate	28701723
Pancreatitis	Associate	36093484
Panic Disorder	Associate	37761918
Papillomavirus Infections	Associate	37812599
Parkinson Disease	Associate	33726823
Perivascular Epithelioid Cell Neoplasms	Associate	33208882
Placenta Accreta	Stimulate	26722461
Plaque Atherosclerotic	Associate	35463977
Pleural Effusion	Associate	31691525
Pneumonia	Associate	32329872
Polycystic Ovary Syndrome	Stimulate	35573984
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Inhibit	33708228
Pre Eclampsia	Inhibit	26722461
Pre Eclampsia	Associate	31774373
Precancerous Conditions	Associate	30683916
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35747989
Preeclamptic toxemia	Inhibit	26722461
Prostatic Neoplasms	Associate	27528026, 27922078, 30591689, 31485645, 31810132, 36073002, 37960954
Prostatitis	Associate	30591689
Pulmonary Arterial Hypertension	Stimulate	31257528
Pulmonary Arterial Hypertension	Associate	32712618
Pulmonary Disease Chronic Obstructive	Associate	32329872, 32583510
Purpura Thrombocytopenic Idiopathic	Stimulate	32563217
Renal cell carcinoma 1	Associate	28808260
Reperfusion Injury	Stimulate	31075559
Reperfusion Injury	Associate	33750458
Respiratory Distress Syndrome	Associate	19635508, 31871512
Retinoblastoma	Associate	28550678, 32894536, 36284668
Rhinitis Allergic	Associate	36149748
Rigor Mortis	Associate	26917489
Ring Chromosome 20 Syndrome	Stimulate	33750458
Sarcoma Endometrial Stromal	Stimulate	16441420
Sepsis	Stimulate	31301104
Sepsis	Associate	32309886, 35300579
Severe Acute Respiratory Syndrome	Associate	19635508
Sick Sinus Syndrome	Stimulate	38203269
Sjogren's Syndrome	Stimulate	36189916
Sleep Deprivation	Associate	40650203
Smooth Muscle Tumor	Stimulate	37125614
Soft Tissue Neoplasms	Associate	31189998
Splenomegaly	Stimulate	30665334
Squamous Cell Carcinoma of Head and Neck	Stimulate	30355951
Squamous Cell Carcinoma of Head and Neck	Associate	30657561, 31792655, 31837057, 32879299, 36813772
Squamous Cell Carcinoma of Head and Neck	Inhibit	33410422
ST Elevation Myocardial Infarction	Associate	35228564
Status Asthmaticus	Associate	32292999
Stomach Neoplasms	Associate	26617828, 26649728, 26871474, 27486823, 28942451, 29309307, 31037832, 31352788, 31480991, 33135867, 33333725, 34001131, 34308750, 34615385, 37505170, 38064387
Stomach Neoplasms	Stimulate	33824303
Stroke	Associate	35392816
Sudden Unexpected Death in Epilepsy	Associate	21615589
Tarlov Cysts	Stimulate	25031737
Tertiary Lymphoid Structures	Stimulate	27250026
Tertiary Lymphoid Structures	Associate	34200314
Thymic epithelial tumor	Associate	34530916
Thyroid Cancer Papillary	Associate	27696303
Thyroid Carcinoma Anaplastic	Inhibit	27696303
Thyroid Carcinoma Anaplastic	Associate	31077090
Thyroid Neoplasms	Inhibit	27696303
Thyroid Neoplasms	Associate	33030666
Tongue Neoplasms	Associate	30657561
Triple Negative Breast Neoplasms	Associate	26917489, 27250026, 32190687, 34326372, 35710947, 37548553
Tuberculosis Multidrug Resistant	Stimulate	28668966
Urethral Neoplasms	Associate	28430799
Urinary Bladder Neoplasms	Associate	27793008, 30268126, 31360106, 31650173, 35449454
Uterine Cervical Dysplasia	Associate	35682732
Uterine Cervical Neoplasms	Associate	25431257, 25480417, 26242259, 26311052, 27184657, 28252165, 30178834, 30536307, 37812599
Uterine Cervical Neoplasms	Stimulate	26400521, 26854446
Uterine Cervicitis	Associate	35682732
Uterine Diseases	Stimulate	31173276
Vascular Calcification	Associate	37125614
Vascular Diseases	Associate	26364720, 29575939
Vascular System Injuries	Associate	26364720
Venous Thrombosis	Associate	35706417
Virus Diseases	Associate	35058920
Vision Disorders	Associate	33436407
Vitreoretinopathy Proliferative	Associate	27019196
von Hippel Lindau Disease	Associate	27287256
Weight Loss	Stimulate	33436407
Wounds and Injuries	Associate	33604388