MCM2 (minichromosome maintenance complex component 2)

Gene

• Entrez ID: 4171
• Gene name: Minichromosome maintenance complex component 2
• Gene symbol: MCM2
• Synonyms (NCBI Gene): BM28, CCNL1, CDCL1, D3S3194, DFNA70, MITOTIN, cdc19
• Disease Acronyms (UniProt): DFNA70
• Chromosome: 3
• Chromosome location: 3q21.3
• Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553743140	G>C	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000473	hsa-miR-1296-5p	real time qRT-PCR, Western blot	20332239
MIRT007327	hsa-miR-31-5p	Luciferase reporter assay	23233736
MIRT023837	hsa-miR-1-3p	Proteomics	18668040
MIRT025400	hsa-miR-34a-5p	Proteomics	21566225
MIRT025400	hsa-miR-34a-5p	Proteomics	21566225
MIRT025400	hsa-miR-34a-5p	Proteomics	21566225
MIRT042538	hsa-miR-423-3p	CLASH	23622248
MIRT039755	hsa-miR-615-3p	CLASH	23622248
MIRT039755	hsa-miR-615-3p	CLASH	23622248
MIRT038004	hsa-miR-500a-5p	CLASH	23622248
MIRT037990	hsa-miR-501-3p	CLASH	23622248
MIRT036508	hsa-miR-1226-3p	CLASH	23622248
MIRT1137639	hsa-miR-1976	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137642	hsa-miR-3591-3p	CLIP-seq
MIRT1137643	hsa-miR-3616-3p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137645	hsa-miR-3913-3p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137647	hsa-miR-4436b-3p	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137649	hsa-miR-4660	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137651	hsa-miR-4716-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137653	hsa-miR-489	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137655	hsa-miR-640	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq
MIRT2269085	hsa-miR-31	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT2269086	hsa-miR-3176	CLIP-seq
MIRT2269087	hsa-miR-326	CLIP-seq
MIRT2269088	hsa-miR-330-5p	CLIP-seq
MIRT2269089	hsa-miR-3688-5p	CLIP-seq
MIRT2269090	hsa-miR-3714	CLIP-seq
MIRT2269091	hsa-miR-3908	CLIP-seq
MIRT2269092	hsa-miR-3922-3p	CLIP-seq
MIRT2269093	hsa-miR-3926	CLIP-seq
MIRT2269094	hsa-miR-4267	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT2269095	hsa-miR-4293	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT2269096	hsa-miR-495	CLIP-seq
MIRT2269097	hsa-miR-545	CLIP-seq
MIRT2269098	hsa-miR-548an	CLIP-seq
MIRT2269099	hsa-miR-548p	CLIP-seq
MIRT2269100	hsa-miR-548s	CLIP-seq
MIRT2269101	hsa-miR-885-3p	CLIP-seq
MIRT1137640	hsa-miR-214	CLIP-seq
MIRT1137641	hsa-miR-3140-5p	CLIP-seq
MIRT1137642	hsa-miR-3591-3p	CLIP-seq
MIRT1137644	hsa-miR-3619-5p	CLIP-seq
MIRT1137646	hsa-miR-4291	CLIP-seq
MIRT1137648	hsa-miR-4539	CLIP-seq
MIRT1137649	hsa-miR-4660	CLIP-seq
MIRT1137650	hsa-miR-4680-5p	CLIP-seq
MIRT1137652	hsa-miR-4793-5p	CLIP-seq
MIRT1137654	hsa-miR-512-5p	CLIP-seq
MIRT1137655	hsa-miR-640	CLIP-seq
MIRT1137656	hsa-miR-646	CLIP-seq
MIRT1137657	hsa-miR-761	CLIP-seq
MIRT1137658	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYCN	Activation	17826980

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA	21873635
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	16899510
GO:0003677	Function	DNA binding	TAS	8175912
GO:0003688	Function	DNA replication origin binding	IBA	21873635
GO:0003697	Function	Single-stranded DNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11095689, 12740381, 15232106, 15654075, 16189514, 16387653, 16899510, 16902406, 17296731, 19805216, 19819239, 19862764, 21044950, 21149733, 22540012, 23764002, 24299456, 24981860, 25036637, 25416956, 26167883, 26496610, 27173435, 28191891, 28514442, 31467278, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16899510, 21383955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005664	Component	Nuclear origin of replication recognition complex	IEA
GO:0005730	Component	Nucleolus	IDA	21383955
GO:0005737	Component	Cytoplasm	IDA	26196677
GO:0006260	Process	DNA replication	TAS
GO:0006267	Process	Pre-replicative complex assembly involved in nuclear cell cycle DNA replication	IBA	21873635
GO:0006268	Process	DNA unwinding involved in DNA replication	IBA	21873635
GO:0006270	Process	DNA replication initiation	IMP	16899510
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006915	Process	Apoptotic process	IMP	26196677
GO:0017116	Function	Single-stranded DNA helicase activity	IBA	21873635
GO:0019899	Function	Enzyme binding	IEA
GO:0042393	Function	Histone binding	IEA
GO:0042555	Component	MCM complex	IBA	21873635
GO:0042555	Component	MCM complex	IDA	17296731
GO:0043138	Function	3'-5' DNA helicase activity	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0071162	Component	CMG complex	ISS
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0090102	Process	Cochlea development	IMP	26196677
GO:1902975	Process	Mitotic DNA replication initiation	IBA	21873635
GO:1905775	Process	Negative regulation of DNA helicase activity	IEA

Other IDs

• MIM: 116945
• HGNC: 6944
• e!Ensembl: ENSG00000073111

Protein

• UniProt ID: P49736
• Protein name: DNA replication licensing factor MCM2 (EC 3.6.4.12) (Minichromosome maintenance protein 2 homolog) (Nuclear protein BM28)
• Protein function: Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the mol
• PDB: 4UUZ, 5BNV, 5BNX, 5BO0, 5C3I, 5JA4, 6XTX, 6XTY, 6YA7, 7CIZ, 7CJ0, 7PFO, 7PLO, 7W1Y, 7W68, 8B9D, 8RWV, 8S09, 8S0A, 8S0B, 8S0D, 8S0E, 8S0F, 8W0E, 8W0F, 8W0G, 8W0I, 8YJF, 8YJM, 9CAQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12619	MCM2_N	51 → 182	Mini-chromosome maintenance protein 2	Family
  PF14551	MCM_N	196 → 291	MCM N-terminal domain	Domain
  PF17207	MCM_OB	293 → 422	MCM OB domain	Domain
  PF00493	MCM	460 → 683	MCM P-loop domain	Domain
  PF17855	MCM_lid	718 → 802	MCM AAA-lid domain	Domain

• Sequence:

  MAESSESFTMASSPAQRRRGNDPLTSSPGRSSRRTDALTSSPGRDLPPFEDESEGLLGTE
  GPLEEEEDGEELIGDGMERDYRAIPELDAYEAEGLALDDEDVEELTASQREAAERAMRQR
  DREAGRGLGRMRRGLLYDSDEEDEERPARKRRQVERATEDGEEDEEMIESIENLEDLKGH
  SVREWVSMAGPRLEIHHRFKNFLRTHVDSHGHNVFKERISDMCKENRESLVVNYEDLAAR
  EHVLAYFLPEAPAELLQIFDEAALEVVLAMYPKYDRITNHIHVRISHLPLVEELRSLRQL
  HLNQLIRTSGVVTSCTGVLPQLSMVKYNCNKCNFVLGPFCQSQNQEVKPGSCPECQSAGP
  FEVNMEETIYQNYQRIRIQESPGKVAAGRLPRSKDAILLADLVDSCKPGDEIELTGIYHN
  NYDGSLNTANGFPVFATVILANHVAKKDNKVAVGELTDEDVKMITSLSKDQQIGEKIFAS
  IAPSIYGHEDIKRGLALALFGGEPKNPGGKHKVRGDINVLLCGDPGTAKSQFLKYIEKVS
  SRAIFTTGQGASAVGLTAYVQRHPVSREWTLEAGALVLADRGVCLIDEFDKMNDQDRTSI
  HEAMEQQSISISKAGIVTSLQARCTVIAAANPIGGRYDPSLTFSENVDLTEPIISRFDIL
  CVVRDTVDPVQDEMLARFVVGSHVRHHPSNKEEEGLANGSAAEPAMPNTYGVEPLPQEVL
  KKYIIYAKERVHPKLNQMDQDKVAKMYSDLRKESMATGSIPITVRHIESMIRMAEAHARI
  HLRDYVIEDDVNMAIRVMLESFIDTQKFSVMRSMRKTFARYLSFRRDNNELLLFILKQLV
  AEQVTYQRNRFGAQQDTIEVPEKDLVDKARQINIHNLSAFYDSELFRMNKFSHDLKRKMI
  LQQF

• Sequence length: 904

Pathways

KEGG:

DNA replication
Cell cycle

Reactome:

Activation of ATR in response to replication stress
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Switching of origins to a post-replicative state

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	23770000
Deafness	DEAFNESS, AUTOSOMAL DOMINANT 70	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	26196677

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Disease	Associate	19243005
Adenocarcinoma	Associate	17940502, 21943228, 27748889
Adenocarcinoma of Lung	Associate	31323040, 32121037, 37517032
Adenocarcinoma of Lung	Stimulate	31545501
Adrenal Cortex Diseases	Associate	19031940
Adrenocortical Adenoma	Associate	19031940
Adrenocortical Carcinoma	Stimulate	19031940
Alzheimer Disease	Associate	19946466
Ameloblastoma	Associate	26823641
Aneuploidy	Stimulate	19920109
Anophthalmia with pulmonary hypoplasia	Associate	39358545
Astrocytoma	Associate	23618321
Ataxia Telangiectasia	Associate	16446360
Barrett Esophagus	Associate	11839717
Breast Neoplasms	Associate	16278669, 21097442, 26205655, 28084344, 31311202, 31476594, 32830194
Carcinogenesis	Associate	20648010, 24386425, 31653153
Carcinogenesis	Stimulate	29651323
Carcinoma Adenoid Cystic	Associate	21943228
Carcinoma Hepatocellular	Associate	20515756, 20515845, 29962817, 31737652, 32108036, 32964028, 33499054, 34087888, 35093119, 39596041
Carcinoma in Situ	Associate	17676583
Carcinoma Non Small Cell Lung	Associate	16882345
Carcinoma Ovarian Epithelial	Associate	26889980, 38216547
Carcinoma Pancreatic Ductal	Associate	15548371
Carcinoma Renal Cell	Associate	15814627
Carcinoma Squamous Cell	Associate	11839717, 12966424, 16622441, 16832409, 27748889, 31653153, 35478139, 37746664
Carcinoma Squamous Cell	Stimulate	36445337
Cholangiocarcinoma	Associate	35307646, 37305391
Colorectal Neoplasms	Associate	19661314, 30937307, 31949199, 37370046
Colorectal Neoplasms	Stimulate	29651323
Cystadenocarcinoma	Stimulate	15083189
Cystadenoma Serous	Stimulate	15083189
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	19293805, 36149152
Diffuse Neurofibrillary Tangles with Calcification	Associate	19946466
Disease	Associate	21866463
Disease Progression	Associate	35652205
Dissection Thoracic Aorta	Associate	31380418
Dyskinesias	Associate	26712671
Dysplastic Nevus Syndrome	Associate	31653153
Endometrial Neoplasms	Associate	34859821
Esophageal Squamous Cell Carcinoma	Associate	11839717
Fanconi Anemia	Associate	25662766
Fibrosis	Associate	15776414
Gallbladder Neoplasms	Associate	27748889, 37480569
Glioma	Associate	25046975
Hearing Loss	Associate	35652205
Hearing Loss Sensorineural	Associate	35652205
Hepatitis B	Stimulate	28084344
Hepatitis B	Associate	31476594
Hepatitis C	Stimulate	18680610
Hepatomegaly	Associate	37480569
Hypoxia	Associate	14511370
Inflammation	Associate	32108036, 37480569
Keratosis Actinic	Stimulate	35478139
Laryngitis	Associate	16832409
Leukemia Myeloid Acute	Associate	30480765, 37358551
Leukemia Prolymphocytic T Cell	Associate	16950856
Liposarcoma	Associate	30317246
Lung Neoplasms	Associate	17676583, 29038488, 32469983, 35360518
Lymphatic Metastasis	Associate	19661314, 24386425
Lymphatic Metastasis	Stimulate	27748889
Lymphoma Large B Cell Diffuse	Associate	16368013
Lymphoma Non Hodgkin	Associate	26889980
Meningioma	Stimulate	19877719
Meningioma	Associate	37014425
Mouth Neoplasms	Associate	16821635, 28135012
Myelodysplastic Syndromes	Associate	16281941
Nasopharyngeal Carcinoma	Associate	25098679
Necrosis	Associate	37480569
Nemaline myopathy 5	Associate	17505513
Neoplasm Invasiveness	Associate	16556617
Neoplasm Metastasis	Associate	32469983
Neoplasms	Associate	12242660, 15814627, 16368013, 16556617, 16821635, 16882345, 17233903, 17505513, 17940502, 19031940, 19331208, 19661314, 19920109, 20157412, 20209638, 21097442, 21943228, 22838965, 25046975, 25354783, 26823641, 27748889, 29038488, 29596435, 29749503, 30150654, 30364933, 30468474, 31322224, 31446607, 32469983, 32830194, 32964028, 32989049, 33370704, 34859821, 35307646, 35478139, 36149152, 37305391, 40050905
Neoplasms	Stimulate	15083189, 16545117, 32121037
Neoplasms by Histologic Type	Associate	21097442
Nephroma Mesoblastic	Associate	21866463
Nonsyndromic Deafness	Associate	35652205
Odontogenic Cysts	Associate	22778705
Odontogenic Tumors	Associate	22778705
Ovarian Diseases	Associate	26889980
Ovarian Neoplasms	Associate	17940502, 31322224
Pancreatic Neoplasms	Associate	27695057, 29596435, 32420375
Papillomavirus Infections	Associate	30364933
Peritoneal Neoplasms	Stimulate	26889980
Pigmented Nodular Adrenocortical Disease Primary 1	Associate	19031940
Plaque Amyloid	Associate	19946466
Polycystic Ovary Syndrome	Associate	37132453
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	29768346
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30646895
Prostatic Intraepithelial Neoplasia	Stimulate	16545117
Prostatic Neoplasms	Associate	11555583, 16545117, 17406359
Radicular Cyst	Associate	22778705
Retinal Dysplasia	Associate	16622441, 18414413, 19116018, 26712671, 30364933
Retinoblastoma	Associate	16556617, 20157412
Salivary Gland Neoplasms	Associate	21943228
Sick Sinus Syndrome	Associate	36171622
Small Cell Lung Carcinoma	Associate	29845250, 34719665
Squamous Cell Carcinoma of Head and Neck	Associate	12966424, 19293805, 24386425, 26712671, 30468474, 36149152, 37480569
Squamous Cell Carcinoma of Head and Neck	Inhibit	34272446
Squamous Intraepithelial Lesions	Associate	16937378, 33413211
Squamous Intraepithelial Lesions	Stimulate	31653153
Stomach Neoplasms	Associate	31937549, 36171622
Thymoma	Associate	30787364
Thyroid Neoplasms	Associate	37864896
Tongue Diseases	Associate	19116018
Triple Negative Breast Neoplasms	Associate	31476594
Urethral Neoplasms	Associate	27780919
Urinary Bladder Neoplasms	Associate	17505513, 18414413
Uterine Cervical Dysplasia	Associate	30150654
Uterine Cervical Neoplasms	Associate	23874974, 24706378, 30150654, 31653153, 32181600, 33302814, 33413211, 33616161, 34404366, 37344577, 37746664, 38453655
Uterine Cervicitis	Associate	25755789, 31653153, 33413211
Wilms Tumor	Associate	21866463