DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B)

Gene

• Entrez ID: 9149
• Gene name: Dual specificity tyrosine phosphorylation regulated kinase 1B
• Gene symbol: DYRK1B
• Synonyms (NCBI Gene): AOMS3, MIRK
• Disease Acronyms (UniProt): AOMS3
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdomi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016969	hsa-miR-335-5p	Microarray	18185580
MIRT045408	hsa-miR-149-5p	CLASH	23622248
MIRT044780	hsa-miR-320a	CLASH	23622248
MIRT043128	hsa-miR-324-5p	CLASH	23622248
MIRT038537	hsa-miR-30c-1-3p	CLASH	23622248
MIRT037892	hsa-miR-455-3p	CLASH	23622248
MIRT036171	hsa-miR-320c	CLASH	23622248
MIRT497055	hsa-miR-491-5p	PAR-CLIP	22291592
MIRT497054	hsa-miR-548as-3p	PAR-CLIP	22291592
MIRT497053	hsa-miR-1296-3p	PAR-CLIP	22291592
MIRT497052	hsa-miR-4419a	PAR-CLIP	22291592
MIRT497051	hsa-miR-4510	PAR-CLIP	22291592
MIRT497050	hsa-miR-6127	PAR-CLIP	22291592
MIRT497049	hsa-miR-6129	PAR-CLIP	22291592
MIRT497048	hsa-miR-6130	PAR-CLIP	22291592
MIRT497047	hsa-miR-6133	PAR-CLIP	22291592
MIRT497046	hsa-miR-1249-5p	PAR-CLIP	22291592
MIRT497045	hsa-miR-6797-5p	PAR-CLIP	22291592
MIRT497044	hsa-miR-3926	PAR-CLIP	22291592
MIRT497043	hsa-miR-6090	PAR-CLIP	22291592
MIRT497042	hsa-miR-149-3p	PAR-CLIP	22291592
MIRT497041	hsa-miR-4728-5p	PAR-CLIP	22291592
MIRT497040	hsa-miR-6785-5p	PAR-CLIP	22291592
MIRT497039	hsa-miR-6883-5p	PAR-CLIP	22291592
MIRT497038	hsa-miR-3175	PAR-CLIP	22291592
MIRT497037	hsa-miR-1343-5p	PAR-CLIP	22291592
MIRT497036	hsa-miR-939-5p	PAR-CLIP	22291592
MIRT497035	hsa-miR-6825-5p	PAR-CLIP	22291592
MIRT497034	hsa-miR-4727-3p	PAR-CLIP	22291592
MIRT497033	hsa-miR-4460	PAR-CLIP	22291592
MIRT497032	hsa-miR-3150a-3p	PAR-CLIP	22291592
MIRT497031	hsa-miR-6763-5p	PAR-CLIP	22291592
MIRT497055	hsa-miR-491-5p	PAR-CLIP	22291592
MIRT497054	hsa-miR-548as-3p	PAR-CLIP	22291592
MIRT497053	hsa-miR-1296-3p	PAR-CLIP	22291592
MIRT497052	hsa-miR-4419a	PAR-CLIP	22291592
MIRT497051	hsa-miR-4510	PAR-CLIP	22291592
MIRT497050	hsa-miR-6127	PAR-CLIP	22291592
MIRT497049	hsa-miR-6129	PAR-CLIP	22291592
MIRT497048	hsa-miR-6130	PAR-CLIP	22291592
MIRT497047	hsa-miR-6133	PAR-CLIP	22291592
MIRT497046	hsa-miR-1249-5p	PAR-CLIP	22291592
MIRT497045	hsa-miR-6797-5p	PAR-CLIP	22291592
MIRT497044	hsa-miR-3926	PAR-CLIP	22291592
MIRT497043	hsa-miR-6090	PAR-CLIP	22291592
MIRT497042	hsa-miR-149-3p	PAR-CLIP	22291592
MIRT497041	hsa-miR-4728-5p	PAR-CLIP	22291592
MIRT497040	hsa-miR-6785-5p	PAR-CLIP	22291592
MIRT497039	hsa-miR-6883-5p	PAR-CLIP	22291592
MIRT497038	hsa-miR-3175	PAR-CLIP	22291592
MIRT497037	hsa-miR-1343-5p	PAR-CLIP	22291592
MIRT497036	hsa-miR-939-5p	PAR-CLIP	22291592
MIRT497035	hsa-miR-6825-5p	PAR-CLIP	22291592
MIRT497034	hsa-miR-4727-3p	PAR-CLIP	22291592
MIRT497033	hsa-miR-4460	PAR-CLIP	22291592
MIRT497032	hsa-miR-3150a-3p	PAR-CLIP	22291592
MIRT497031	hsa-miR-6763-5p	PAR-CLIP	22291592
MIRT949668	hsa-miR-143	CLIP-seq
MIRT949669	hsa-miR-145	CLIP-seq
MIRT949670	hsa-miR-185	CLIP-seq
MIRT949671	hsa-miR-4306	CLIP-seq
MIRT949672	hsa-miR-4428	CLIP-seq
MIRT949673	hsa-miR-4644	CLIP-seq
MIRT949674	hsa-miR-4770	CLIP-seq
MIRT1981337	hsa-miR-1185	CLIP-seq
MIRT1981338	hsa-miR-1275	CLIP-seq
MIRT1981339	hsa-miR-135a	CLIP-seq
MIRT1981340	hsa-miR-135b	CLIP-seq
MIRT949668	hsa-miR-143	CLIP-seq
MIRT949670	hsa-miR-185	CLIP-seq
MIRT1981341	hsa-miR-1913	CLIP-seq
MIRT1981342	hsa-miR-1915	CLIP-seq
MIRT1981343	hsa-miR-2392	CLIP-seq
MIRT1981344	hsa-miR-296-5p	CLIP-seq
MIRT1981345	hsa-miR-3184	CLIP-seq
MIRT1981346	hsa-miR-324-3p	CLIP-seq
MIRT1981347	hsa-miR-3605-5p	CLIP-seq
MIRT1981348	hsa-miR-361-3p	CLIP-seq
MIRT1981349	hsa-miR-3679-5p	CLIP-seq
MIRT1981350	hsa-miR-3918	CLIP-seq
MIRT1981351	hsa-miR-423-5p	CLIP-seq
MIRT1981352	hsa-miR-4300	CLIP-seq
MIRT949671	hsa-miR-4306	CLIP-seq
MIRT949672	hsa-miR-4428	CLIP-seq
MIRT1981353	hsa-miR-4525	CLIP-seq
MIRT949673	hsa-miR-4644	CLIP-seq
MIRT1981354	hsa-miR-4650-5p	CLIP-seq
MIRT1981355	hsa-miR-4665-5p	CLIP-seq
MIRT1981356	hsa-miR-4667-3p	CLIP-seq
MIRT1981357	hsa-miR-4685-5p	CLIP-seq
MIRT1981358	hsa-miR-4723-5p	CLIP-seq
MIRT949674	hsa-miR-4770	CLIP-seq
MIRT1981359	hsa-miR-625	CLIP-seq
MIRT1981360	hsa-miR-920	CLIP-seq
MIRT1981341	hsa-miR-1913	CLIP-seq
MIRT1981346	hsa-miR-324-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IDA	11980910
GO:0004672	Function	Protein kinase activity	IDA	11980910
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	11980910, 14500717, 14593110, 20940704, 23602568, 27705803, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IDA
GO:0006468	Process	Protein phosphorylation	IDA	11980910
GO:0007520	Process	Myoblast fusion	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0018107	Process	Peptidyl-threonine phosphorylation	IBA	21873635
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11980910
GO:0046777	Process	Protein autophosphorylation	IEA
GO:0060612	Process	Adipose tissue development	IMP	24827035

Other IDs

• MIM: 604556
• HGNC: 3092
• e!Ensembl: ENSG00000105204

Protein

• UniProt ID: Q9Y463
• Protein name: Dual specificity tyrosine-phosphorylation-regulated kinase 1B (EC 2.7.12.1) (Minibrain-related kinase) (Mirk protein kinase)
• Protein function: Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Plays an essential role in ribosomal DNA (rDNA) double-strand break repair and rDNA copy number maintenance (PubMed:33469661). During DNA damage, media
• PDB: 8C2Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	111 → 431	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in skeletal muscle, testis, heart and brain with little expression in colon or lung. Expressed in a variety of tumor cell lines. {ECO:0000269|PubMed:10910078}.
• Sequence:

  MAVPPGHGPFSGFPGPQEHTQVLPDVRLLPRRLPLAFRDATSAPLRKLSVDLIKTYKHIN
  EVYYAKKKRRAQQAPPQDSSNKKEKKVLNHGYDDDNHDYIVRSGERWLERYEIDSLIGKG
  SFGQVVKAYDHQTQELVAIKIIKNKKAFLNQAQIELRLLELMNQHDTEMKYYIVHLKRHF
  MFRNHLCLVFELLSYNLYDLLRNTHFRGVSLNLTRKLAQQLCTALLFLATPELSIIHCDL
  KPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGTPYDLAIDMWSLG
  CILVEMHTGEPLFSGSNEVDQMNRIVEVLGIPPAAMLDQAPKARKYFERLPGGGWTLRRT
  KELRKDYQGPGTRRLQEVLGVQTGGPGGRRAGEPGHSPADYLRFQDLVLRMLEYEPAARI
  SPLGALQHGFFRRTADEATNTGPAGSSASTSPAPLDTCPSSSTASSISSSGGSSGSSSDN
  RTYRYSNRYCGGPGPPITDCEMNSPQVPPSQPLRPWAGGDVPHKTHQAPASASSLPGTGA
  QLPPQPRYLGRPPSPTSPPPPELMDVSLVGGPADCSPPHPAPAPQHPAASALRTRMTGGR
  PPLPPPDDPATLGPHLGLRGVPQSTAASS

• Sequence length: 629

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Metabolic syndrome	ABDOMINAL OBESITY-METABOLIC SYNDROME 3, NON RARE IN EUROPE: Metabolic syndrome	rs367643250, rs587777380, rs777736953	24827035
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Hypertension	Hypertensive disease	rs13306026
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393	20857490

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	25264830
Colonic Neoplasms	Associate	19542220
Colorectal Neoplasms	Associate	19542220, 38040123
Coronary Artery Disease	Associate	24827035
Diabetes Mellitus	Associate	24827035, 37301518
Diabetes Mellitus Type 2	Associate	34193236
Down Syndrome	Associate	25264830
Genetic Diseases Inborn	Associate	25264830
Hypertension	Associate	24827035
Hypoxia	Stimulate	38040123
Infections	Associate	25648438
Lymphoma	Associate	25648438
Metabolic Syndrome	Associate	24827035, 26346493, 28743892
Mouth Diseases	Associate	29559974
Neoplasms	Associate	19542220, 21878655, 22385282, 23114871, 26346493, 38040123
Neurodegenerative Diseases	Associate	25264830
Obesity	Associate	37329217
Osteosarcoma	Associate	20042639
Ovarian Neoplasms	Associate	23114871, 24590896
Pancreatic Neoplasms	Associate	19351855, 21878655, 24590896
Papillomavirus Infections	Associate	26307683
Prostatic Neoplasms	Associate	25777618
Tauopathies	Associate	25264830
Vascular Diseases	Associate	37301518