MYO9A (myosin IXA)

Gene

• Entrez ID: 4649
• Gene name: Myosin IXA
• Gene symbol: MYO9A
• Synonyms (NCBI Gene): CMS24
• Disease Acronyms (UniProt): CMS24
• Chromosome: 15
• Chromosome location: 15q23
• Summary: This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74022458	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200246273	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs374155761	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1567176190	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021993	hsa-miR-128-3p	Sequencing	20371350
MIRT027352	hsa-miR-101-3p	Sequencing	20371350
MIRT028717	hsa-miR-27a-3p	Sequencing	20371350
MIRT030828	hsa-miR-21-5p	Microarray	18591254
MIRT052604	hsa-let-7a-5p	CLASH	23622248
MIRT051864	hsa-let-7c-5p	CLASH	23622248
MIRT040450	hsa-miR-615-3p	CLASH	23622248
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170158	hsa-miR-3664-3p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170160	hsa-miR-4436a	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170163	hsa-miR-4712-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2685686	hsa-miR-4323	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003774	Function	Motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	15644318
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007601	Process	Visual perception	TAS	10409426
GO:0016021	Component	Integral component of membrane	IEA
GO:0016461	Component	Unconventional myosin complex	NAS	8022818
GO:0034329	Process	Cell junction assembly	IMP	22891260
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0044295	Component	Axonal growth cone	ISS
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22891260
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0150011	Process	Regulation of neuron projection arborization	ISS

Other IDs

• MIM: 604875
• HGNC: 7608
• e!Ensembl: ENSG00000066933

Protein

• UniProt ID: B2RTY4
• Protein name: Unconventional myosin-IXa (Unconventional myosin-9a)
• Protein function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00788	RA	14 → 112	Ras association (RalGDS/AF-6) domain	Domain
  PF00063	Myosin_head	148 → 700	Myosin head (motor domain)	Domain
  PF00063	Myosin_head	827 → 1004	Myosin head (motor domain)	Domain
  PF00612	IQ	1043 → 1063	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1075 → 1095	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1116 → 1136	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1139 → 1159	IQ calmodulin-binding motif	Motif
  PF00620	RhoGAP	2076 → 2226	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found to be expressed in testis and placenta and at lower levels in all the examined tissues with the exception of liver (PubMed:10409426). Isoform 5: Found in leukocytes but not in brain, retina or testis (PubMed:10409426). {ECO:00002
• Sequence:

  MNINDGGRRRFEDNEHTLRIYPGAISEGTIYCPIPARKNSTAAEVIESLINKLHLDKTKC
  YVLAEVKEFGGEEWILNPTDCPVQRMMLWPRMALENRLSGEDYRFLLREKNLDGSIHYGS
  LQSWLRVTEERRRMMERGFLPQPQQKDFDDLCSLPDLNEKTLLENLRNRFKHEKIYTYVG
  SILIVINPFKFLPIYNPKYVKMYDNHQLGKLEPHIYAVADVAYHAMLQRKKNQCIVISGE
  SGSGKTQSTNFLIHHLTALSQKGFASGVEQIILGAGPVLEAFGNAKTAHNNNSSRFGKFI
  QVNYQETGTVLGAYVEKYLLEKSRLVYQEHNERNYHVFYYLLAGASEDERSAFHLKQPEE
  YHYLNQITKKPLRQSWDDYCYDSEPDCFTVEGEDLRHDFERLQLAMEMVGFLPKTRRQIF
  SLLSAILHLGNICYKKKTYRDDSIDICNPEVLPIVSELLEVKEEMLFEALVTRKTVTVGE
  KLILPYKLAEAVTVRNSMAKSLYSALFDWIVFRINHALLNSKDLEHNTKTLSIGVLDIFG
  FEDYENNSFEQFCINFANERLQHYFNQHIFKLEQEEYRTEGISWHNIDYIDNTCCINLIS
  KKPTGLLHLLDEESNFPQATNQTLLDKFKHQHEDNSYIEFPAVMEPAFIIKHYAGKVKYG
  VKDFREKNTDHMRPDIVALLRSSKNAFISGMIGIDPVAVFRWAILRAFFRAMVAFREAGK
  RNIHRKTGHDDTAPCAILKSMDSFSFLQHPVHQRSLEILQRCKEEKYSITRKNPRTPLSD
  LQGMNALNEKNQHDTFDIAWNGRTGIRQSRLSSGTSLLDKDGIFANSTSSKLLERAHGIL
  TRNKNFKSKPALPKHLLEVNSLKHLTRLTLQDRITKSLLHLHKKKKPPSISAQFQASLSK
  LMETLGQAEPYFVKCIRSNAEKLPLRFSDVLVLRQLRYTGMLETVRIRQSGYSSKYSFQD
  FVSHFHVLLPRNIIPSKFNIQDFFRKINLNPDNYQVGKTMVFLKEQERQHLQDLLHQEVL
  RRIILLQRWFRVLLCRQHFLHLRQASVIIQRFWRNYLNQKQVRDAAVQKDAFVMASAAAL
  LQASWRAHLERQRYLELRAAAIVIQQKWRDYYRRRHMAAICIQARWKAYRESKRYQEQRK
  KIILLQSTCRGFRARQRFKALKEQRLRETKPEVGLVNIKGYGSLEIQGSDPSGWEDCSFD
  NRIKAIEECKSVIESNRISRESSVDCLKESPNKQQERAQSQSGVDLQEDVLVRERPRSLE
  DLHQKKVGRAKRESRRMRELEQAIFSLELLKVRSLGGISPSEDRRWSTELVPEGLQSPRG
  TPDSESSQGSLELLSYEESQKSKLESVISDEGDLQFPSPKISSSPKFDSRDNALSASNET
  SSAEHLKDGTMKEMVVCSSESITCKPQLKDSFISNSLPTFFYIPQQDPLKTNSQLDTSIQ
  RNKLLENEDTAGEALTLDINRETRRYHCSGKDQIVPSLNTESSNPVLKKLEKLNTEKEER
  QKQLQQQNEKEMMEQIRQQTDILEKERKAFKTIEKPRIGECLVAPSSYQSKQRVERPSSL
  LSLNTSNKGELNVLGSLSLKDAALAQKDSSSAHLPPKDRPVTVFFERKGSPCQSSTVKEL
  SKTDRMGTQLNVACKLSNNRISKREHFRPTQSYSHNSDDLSREGNARPIFFTPKDNMSIP
  LVSKEALNSKNPQLHKEDEPAWKPVKLAGPGQRETSQRFSSVDEQAKLHKTMSQGEITKL
  AVRQKASDSDIRPQRAKMRFWAKGKQGEKKTTRVKPTTQSEVSPLFAGTDVIPAHQFPDE
  LAAYHPTPPLSPELPGSCRKEFKENKEPSPKAKRKRSVKISNVALDSMHWQNDSVQIIAS
  VSDLKSMDEFLLKKVNDLDNEDSKKDTLVDVVFKKALKEFRQNIFSFYSSALAMDDGKSI
  RYKDLYALFEQILEKTMRLEQRDSLGESPVRVWVNTFKVFLDEYMNEFKTSDCTATKVPK
  TERKKRRKKETDLVEEHNGHIFKATQYSIPTYCEYCSSLIWIMDRASVCKLCKYACHKKC
  CLKTTAKCSKKYDPELSSRQFGVELSRLTSEDRTVPLVVEKLINYIEMHGLYTEGIYRKS
  GSTNKIKELRQGLDTDAESVNLDDYNIHVIASVFKQWLRDLPNPLMTFELYEEFLRAMGL
  QERKETIRGVYSVIDQLSRTHLNTLERLIFHLVRIALQEDTNRMSANALAIVFAPCILRC
  PDTTDPLQSVQDISKTTTCVELIVVEQMNKYKARLKDISSLEFAENKAKTRLSLIRRSMG
  KGRIRRGNYPGPSSPVVVRLPSVSDVSEETLTSEAAMETDITEQQQAAMQQEERVLTEQI
  ENLQKEKEELTFEMLVLEPRASDDETLESEASIGTADSSENLNMESEYAISEKSERSLAL
  SSLKTAGKSEPSSKLRKQLKKQQDSLDVVDSSVSSLCLSNTASSHGTRKLFQIYSKSPFY
  RAASGNEALGMEGPLGQTKFLEDKPQFISRGTFNPEKGKQKLKNVKNSPQKTKETPEGTV
  MSGRRKTVDPDCTSNQQLALFGNNEFMV

• Sequence length: 2548

Pathways

KEGG:

Motor proteins

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	9819351, 22305756, 10409426, 26752647
Myasthenic syndrome	Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	27259756, 26752647, 30237576
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, 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, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Motor	rs1597597437

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Myasthenic Syndrome	presynaptic congenital myasthenic syndrome			GenCC
Gout	Gout			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	26752647
Stomach Neoplasms	Associate	30361512