TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2)

Gene

• Entrez ID: 160335
• Gene name: Transmembrane O-mannosyltransferase targeting cadherins 2
• Gene symbol: TMTC2
• Synonyms (NCBI Gene): IBDBP1
• Chromosome: 12
• Chromosome location: 12q21.31
• Summary: The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein bin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019093	hsa-miR-335-5p	Microarray	18185580
MIRT023168	hsa-miR-124-3p	Microarray	18668037
MIRT024810	hsa-miR-215-5p	Microarray	19074876
MIRT026937	hsa-miR-192-5p	Microarray	19074876
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647607	hsa-miR-4251	HITS-CLIP	23824327
MIRT647606	hsa-miR-4329	HITS-CLIP	23824327
MIRT647605	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT647604	hsa-miR-1253	HITS-CLIP	23824327
MIRT647603	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639563	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT496888	hsa-miR-561-3p	PAR-CLIP	22291592
MIRT496887	hsa-miR-4470	PAR-CLIP	22291592
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT647607	hsa-miR-4251	HITS-CLIP	23824327
MIRT647606	hsa-miR-4329	HITS-CLIP	23824327
MIRT647605	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT647604	hsa-miR-1253	HITS-CLIP	23824327
MIRT647603	hsa-miR-6770-5p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT639563	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639562	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT639561	hsa-miR-623	HITS-CLIP	23824327
MIRT639560	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639559	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639558	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639557	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT496888	hsa-miR-561-3p	PAR-CLIP	22291592
MIRT496887	hsa-miR-4470	PAR-CLIP	22291592
MIRT1441514	hsa-miR-1275	CLIP-seq
MIRT1441515	hsa-miR-1285	CLIP-seq
MIRT1441516	hsa-miR-1913	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT1441519	hsa-miR-2392	CLIP-seq
MIRT1441520	hsa-miR-3120-3p	CLIP-seq
MIRT1441521	hsa-miR-3163	CLIP-seq
MIRT1441522	hsa-miR-3187-5p	CLIP-seq
MIRT1441523	hsa-miR-324-3p	CLIP-seq
MIRT1441524	hsa-miR-3605-5p	CLIP-seq
MIRT1441525	hsa-miR-365	CLIP-seq
MIRT1441526	hsa-miR-3681	CLIP-seq
MIRT1441527	hsa-miR-3914	CLIP-seq
MIRT1441528	hsa-miR-4260	CLIP-seq
MIRT1441529	hsa-miR-4275	CLIP-seq
MIRT1441530	hsa-miR-4320	CLIP-seq
MIRT1441531	hsa-miR-4525	CLIP-seq
MIRT1441532	hsa-miR-4665-5p	CLIP-seq
MIRT1441533	hsa-miR-4668-5p	CLIP-seq
MIRT1441534	hsa-miR-4694-3p	CLIP-seq
MIRT1441535	hsa-miR-4723-5p	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT1441537	hsa-miR-4796-3p	CLIP-seq
MIRT1441538	hsa-miR-4802-5p	CLIP-seq
MIRT1441539	hsa-miR-520g	CLIP-seq
MIRT1441540	hsa-miR-520h	CLIP-seq
MIRT1441541	hsa-miR-545	CLIP-seq
MIRT1441542	hsa-miR-548c-3p	CLIP-seq
MIRT1441543	hsa-miR-612	CLIP-seq
MIRT1441544	hsa-miR-625	CLIP-seq
MIRT1441545	hsa-miR-765	CLIP-seq
MIRT2132109	hsa-miR-1301	CLIP-seq
MIRT2132110	hsa-miR-136	CLIP-seq
MIRT2132111	hsa-miR-155	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT2132112	hsa-miR-221	CLIP-seq
MIRT2132113	hsa-miR-222	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT2132114	hsa-miR-25	CLIP-seq
MIRT2132115	hsa-miR-298	CLIP-seq
MIRT2132116	hsa-miR-32	CLIP-seq
MIRT2132117	hsa-miR-3611	CLIP-seq
MIRT2132118	hsa-miR-3614-5p	CLIP-seq
MIRT2132119	hsa-miR-363	CLIP-seq
MIRT2132120	hsa-miR-367	CLIP-seq
MIRT2132121	hsa-miR-3671	CLIP-seq
MIRT2132122	hsa-miR-4660	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT2132123	hsa-miR-4789-3p	CLIP-seq
MIRT2132124	hsa-miR-485-3p	CLIP-seq
MIRT2132125	hsa-miR-494	CLIP-seq
MIRT2132126	hsa-miR-5047	CLIP-seq
MIRT2132127	hsa-miR-548v	CLIP-seq
MIRT2132128	hsa-miR-574-5p	CLIP-seq
MIRT2132129	hsa-miR-584	CLIP-seq
MIRT2132130	hsa-miR-607	CLIP-seq
MIRT2132131	hsa-miR-642b	CLIP-seq
MIRT2132132	hsa-miR-92a	CLIP-seq
MIRT2132133	hsa-miR-92b	CLIP-seq
MIRT1441517	hsa-miR-2114	CLIP-seq
MIRT1441518	hsa-miR-2355-5p	CLIP-seq
MIRT2353233	hsa-miR-331-5p	CLIP-seq
MIRT2353234	hsa-miR-3660	CLIP-seq
MIRT2353235	hsa-miR-4256	CLIP-seq
MIRT2353236	hsa-miR-4526	CLIP-seq
MIRT1441536	hsa-miR-4753-5p	CLIP-seq
MIRT2132123	hsa-miR-4789-3p	CLIP-seq
MIRT2132124	hsa-miR-485-3p	CLIP-seq
MIRT2353237	hsa-miR-514	CLIP-seq
MIRT2353238	hsa-miR-514b-3p	CLIP-seq
MIRT2132128	hsa-miR-574-5p	CLIP-seq
MIRT2132131	hsa-miR-642b	CLIP-seq
MIRT2353239	hsa-miR-660	CLIP-seq
MIRT2396089	hsa-miR-4255	CLIP-seq
MIRT2646825	hsa-miR-3143	CLIP-seq
MIRT2646826	hsa-miR-34b	CLIP-seq
MIRT2646827	hsa-miR-543	CLIP-seq
MIRT2693592	hsa-miR-141	CLIP-seq
MIRT2693593	hsa-miR-200a	CLIP-seq
MIRT2693594	hsa-miR-3140-5p	CLIP-seq
MIRT2693595	hsa-miR-34c-3p	CLIP-seq
MIRT2693596	hsa-miR-3676	CLIP-seq
MIRT2693597	hsa-miR-4469	CLIP-seq
MIRT2693598	hsa-miR-4655-3p	CLIP-seq
MIRT2693599	hsa-miR-4659a-5p	CLIP-seq
MIRT2693600	hsa-miR-4659b-5p	CLIP-seq
MIRT2693601	hsa-miR-4776-3p	CLIP-seq
MIRT2693602	hsa-miR-4790-3p	CLIP-seq
MIRT2693603	hsa-miR-483-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IMP	28973932
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	24764305
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24764305
GO:0016021	Component	Integral component of membrane	IEA
GO:0035269	Process	Protein O-linked mannosylation	IMP	28973932
GO:0055074	Process	Calcium ion homeostasis	IMP	24764305

Other IDs

• MIM: 615856
• HGNC: 25440
• e!Ensembl: ENSG00000179104

Protein

• UniProt ID: Q8N394
• Protein name: Protein O-mannosyl-transferase TMTC2 (EC 2.4.1.109) (Transmembrane O-mannosyltransferase targeting cadherins 2) (Transmembrane and tetratricopeptide repeat-containing 2)
• Protein function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08409	DUF1736	247 → 321	Domain of unknown function (DUF1736)	Family
  PF13181	TPR_8	493 → 526	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	527 → 560	Tetratricopeptide repeat	Repeat
  PF13424	TPR_12	559 → 637		Repeat
  PF13181	TPR_8	677 → 710	Tetratricopeptide repeat	Repeat
  PF00515	TPR_1	779 → 812	Tetratricopeptide repeat	Repeat

• Sequence:

  MIAELVSSALGLALYLNTLSADFCYDDSRAIKTNQDLLPETPWTHIFYNDFWGTLLTHSG
  SHKSYRPLCTLSFRLNHAIGGLNPWSYHLVNVLLHAAVTGLFTSFSKILLGDGYWTFMAG
  LMFASHPIHTEAVAGIVGRADVGASLFFLLSLLCYIKHCSTRGYSARTWGWFLGSGLCAG
  CSMLWKEQGVTVLAVSAVYDVFVFHRLKIKQILPTIYKRKNLSLFLSISLLIFWGSSLLG
  ARLYWMGNKPPSFSNSDNPAADSDSLLTRTLTFFYLPTKNLWLLLCPDTLSFDWSMDAVP
  LLKTVCDWRNLHTVAFYTGLLLLAYYGLKSPSVDRECNGKTVTNGKQNANGHSCLSDVEY
  QNSETKSSFASKVENGIKNDVSQRTQLPSTENIVVLSLSLLIIPFVPATNLFFYVGFVIA
  ERVLYIPSMGFCLLITVGARALYVKVQKRFLKSLIFYATATLIVFYGLKTAIRNGDWQNE
  EMLYRSGIKVNPAKAWGNLGNVLKSQSKISEAESAYRNALYYRSNMADMLYNLGLLLQEN
  SRFAEALHYYKLAIGSRPTLASAYLNTGIILMNQGRTEEARRTFLKCSEIPDENLKDPHA
  HKSSVTSCLYNLGKLYHEQGHYEEALSVYKEAIQKMPRQFAPQSLYNMMGEAYMRLSKLP
  EAEHWYMESLRSKTDHIPAHLTYGKLLALTGRKSEAEKLFLKAIELDPTKGNCYMHYGQF
  LLEEARLIEAAEMAKKAAELDSTEFDVVFNAAHMLRQASLNEAAEKYYDLAARLRPNYPA
  ALMNLGAILHLNGRLQKAEANYLRALQLKPDDVITQSNLRKLWNIMEKQGLKTSKT

• Sequence length: 836

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Deafness	Prelingual Deafness, Deafness, Acquired, Deaf Mutism	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	27311106
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	27311106

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			GWAS
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Hearing Loss Sensorineural	Associate	27311106
Lymphoma Non Hodgkin	Associate	35933643
Neoplasms	Associate	39251997
Parkinson Disease	Associate	30665415
Pulmonary Disease Chronic Obstructive	Associate	39251997