MYO3A (myosin IIIA)

Gene

• Entrez ID: 53904
• Gene name: Myosin IIIA
• Gene symbol: MYO3A
• Synonyms (NCBI Gene): DFNA90, DFNB30
• Disease Acronyms (UniProt): DFNA90, DFNB30
• Chromosome: 10
• Chromosome location: 10p12.1
• Summary: The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-ter

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140154015	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs143918373	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs193919333	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs201023600	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs752046945	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs757660866	ATAA>-	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, genic downstream transcript variant, frameshift variant
rs760866131	GA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs764507216	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs769462859	A>-,AA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs777580042	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs876657652	G>C	Likely-pathogenic	Downstream transcript variant, splice donor variant, intron variant, genic downstream transcript variant
rs1023746725	A>C,G	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1554833178	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1564544199	A>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1564544348	G>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1564568849	G>A	Pathogenic	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs1564573788	T>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1564602202	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1589079163	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT531693	hsa-miR-33b-3p	PAR-CLIP	22012620
MIRT531692	hsa-miR-515-3p	PAR-CLIP	22012620
MIRT531691	hsa-miR-519e-3p	PAR-CLIP	22012620
MIRT531690	hsa-miR-3918	PAR-CLIP	22012620
MIRT531689	hsa-miR-148a-3p	PAR-CLIP	22012620
MIRT531688	hsa-miR-148b-3p	PAR-CLIP	22012620
MIRT531687	hsa-miR-152-3p	PAR-CLIP	22012620
MIRT531686	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531685	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531684	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531683	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT531682	hsa-miR-133a-5p	PAR-CLIP	22012620
MIRT531681	hsa-miR-6131	PAR-CLIP	22012620
MIRT531680	hsa-miR-138-5p	PAR-CLIP	22012620
MIRT531679	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT531678	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT531677	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT531676	hsa-miR-3127-5p	PAR-CLIP	22012620
MIRT531675	hsa-miR-4276	PAR-CLIP	22012620
MIRT531674	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT440164	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT440164	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT531693	hsa-miR-33b-3p	PAR-CLIP	22012620
MIRT531692	hsa-miR-515-3p	PAR-CLIP	22012620
MIRT531691	hsa-miR-519e-3p	PAR-CLIP	22012620
MIRT531690	hsa-miR-3918	PAR-CLIP	22012620
MIRT531689	hsa-miR-148a-3p	PAR-CLIP	22012620
MIRT531688	hsa-miR-148b-3p	PAR-CLIP	22012620
MIRT531687	hsa-miR-152-3p	PAR-CLIP	22012620
MIRT531686	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531685	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531684	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531683	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT531682	hsa-miR-133a-5p	PAR-CLIP	22012620
MIRT531681	hsa-miR-6131	PAR-CLIP	22012620
MIRT531680	hsa-miR-138-5p	PAR-CLIP	22012620
MIRT531679	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT531678	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT531677	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT531676	hsa-miR-3127-5p	PAR-CLIP	22012620
MIRT531675	hsa-miR-4276	PAR-CLIP	22012620
MIRT531674	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT1169563	hsa-miR-1273f	CLIP-seq
MIRT1169564	hsa-miR-1276	CLIP-seq
MIRT1169565	hsa-miR-143	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT1169568	hsa-miR-4708-5p	CLIP-seq
MIRT1169569	hsa-miR-4770	CLIP-seq
MIRT1169570	hsa-miR-519e	CLIP-seq
MIRT1169571	hsa-miR-550a	CLIP-seq
MIRT1169572	hsa-miR-759	CLIP-seq
MIRT2048860	hsa-miR-1202	CLIP-seq
MIRT2048861	hsa-miR-138	CLIP-seq
MIRT2048862	hsa-miR-148a	CLIP-seq
MIRT2048863	hsa-miR-148b	CLIP-seq
MIRT2048864	hsa-miR-152	CLIP-seq
MIRT2048865	hsa-miR-1913	CLIP-seq
MIRT2048866	hsa-miR-3194-5p	CLIP-seq
MIRT2048867	hsa-miR-324-3p	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT2048868	hsa-miR-3972	CLIP-seq
MIRT2048869	hsa-miR-4323	CLIP-seq
MIRT1169570	hsa-miR-519e	CLIP-seq
MIRT2048870	hsa-miR-548q	CLIP-seq
MIRT1169571	hsa-miR-550a	CLIP-seq
MIRT2048865	hsa-miR-1913	CLIP-seq
MIRT2277762	hsa-miR-1915	CLIP-seq
MIRT2048867	hsa-miR-324-3p	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT2277763	hsa-miR-4721	CLIP-seq
MIRT2277764	hsa-miR-4726-3p	CLIP-seq
MIRT2277765	hsa-miR-4740-3p	CLIP-seq
MIRT2576468	hsa-miR-214	CLIP-seq
MIRT2576469	hsa-miR-3619-5p	CLIP-seq
MIRT2576470	hsa-miR-4514	CLIP-seq
MIRT2576471	hsa-miR-4690-5p	CLIP-seq
MIRT2576472	hsa-miR-4692	CLIP-seq
MIRT2576473	hsa-miR-761	CLIP-seq
MIRT2576468	hsa-miR-214	CLIP-seq
MIRT2576469	hsa-miR-3619-5p	CLIP-seq
MIRT2576470	hsa-miR-4514	CLIP-seq
MIRT2576471	hsa-miR-4690-5p	CLIP-seq
MIRT2576472	hsa-miR-4692	CLIP-seq
MIRT2576473	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	1262820
GO:0000146	Function	Microfilament motor activity	IMP	17021180
GO:0003779	Function	Actin binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	12672820
GO:0005515	Function	Protein binding	IPI	25822849
GO:0005516	Function	Calmodulin binding	IDA	12672820
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	25822849
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	IMP	12032315
GO:0007605	Process	Sensory perception of sound	ISS
GO:0016459	Component	Myosin complex	IEA
GO:0030175	Component	Filopodium	IDA	17021180
GO:0030898	Function	Actin-dependent ATPase activity	IDA	12672820
GO:0031941	Component	Filamentous actin	IDA	12672820
GO:0032426	Component	Stereocilium tip	ISS
GO:0032433	Component	Filopodium tip	IDA	25822849
GO:0043531	Function	ADP binding	IDA	12672820
GO:0046777	Process	Protein autophosphorylation	IDA	12672820
GO:0050896	Process	Response to stimulus	IEA
GO:0060002	Function	Plus-end directed microfilament motor activity	IDA	12672820
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 606808
• HGNC: 7601
• e!Ensembl: ENSG00000095777

Protein

• UniProt ID: Q8NEV4
• Protein name: Myosin-IIIa (EC 2.7.11.1)
• Protein function: Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required for normal cochlear hair bundle development an
• PDB: 6JLE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	21 → 287	Protein kinase domain	Domain
  PF00063	Myosin_head	340 → 1041	Myosin head (motor domain)	Domain
  PF00612	IQ	1083 → 1101	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1347 → 1367	IQ calmodulin-binding motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
• Sequence:

  MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDE
  EIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGE
  RMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH
  RRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALF
  KIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ
  LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEK
  CYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT
  YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTII
  NDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKK
  KLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI
  LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGE
  TIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFG
  FENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFL
  QKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNA
  SGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
  INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQA
  RKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCA
  TILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQE
  KRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQ
  AENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV
  KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLER
  KAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQE
  EGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIV
  TTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYF
  ILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK
  TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRE
  RRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFRRLLRKTSQRRRLVQQS

• Sequence length: 1616

Pathways

KEGG:

Motor proteins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Deafness	Deafness, Autosomal Recessive 30	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	21165622
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	26754646, 27063751, 23990876, 12032315, 21165622
Renal carcinoma	Conventional (Clear Cell) Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Rheumatoid	Associate	20090771
Chromosome Aberrations	Associate	32519820
Deafness	Associate	30682115
Diabetes Mellitus Type 1	Stimulate	36175575
Hearing Loss	Associate	32519820, 33078831, 33953343
Hearing Loss High Frequency	Associate	32519820
Hearing Loss Sensorineural	Associate	23503914, 32519820, 35580552
Hyperlipidemias	Associate	36175575
Hypothyroidism	Associate	36175575
Ketosis	Stimulate	36175575
Nervous System Diseases	Stimulate	36175575
Nonsyndromic Deafness	Associate	23990876, 32519820, 33953343
Polycystic Ovary Syndrome	Stimulate	36175575
Urinary Bladder Neoplasms	Associate	21586619