CHRNE (cholinergic receptor nicotinic epsilon subunit)

Gene

• Entrez ID: 1145
• Gene name: Cholinergic receptor nicotinic epsilon subunit
• Gene symbol: CHRNE
• Synonyms: ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892105	hsa-miR-19a	CLIP-seq
MIRT892106	hsa-miR-19b	CLIP-seq
MIRT892107	hsa-miR-2110	CLIP-seq
MIRT892108	hsa-miR-3074-5p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892110	hsa-miR-3185	CLIP-seq
MIRT892111	hsa-miR-339-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892114	hsa-miR-4271	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892117	hsa-miR-4685-5p	CLIP-seq
MIRT892118	hsa-miR-4688	CLIP-seq
MIRT892119	hsa-miR-4725-3p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892121	hsa-miR-486-3p	CLIP-seq
MIRT892122	hsa-miR-491-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892124	hsa-miR-548v	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT1964376	hsa-miR-1470	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT1964377	hsa-miR-4287	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT1964378	hsa-miR-4469	CLIP-seq
MIRT1964379	hsa-miR-4667-3p	CLIP-seq
MIRT1964380	hsa-miR-4685-3p	CLIP-seq
MIRT1964381	hsa-miR-4713-5p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT2200525	hsa-miR-3127-3p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT2200526	hsa-miR-338-3p	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT2200527	hsa-miR-4530	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT2200528	hsa-miR-766	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT2200529	hsa-miR-922	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS2	Activation	9677435

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7531341
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007271	Process	Synaptic transmission, cholinergic	TAS	8872460
GO:0008324	Function	Cation transmembrane transporter activity	TAS	8872460
GO:0015464	Function	Acetylcholine receptor activity	TAS	8872460
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IDA	7531341
GO:0031594	Component	Neuromuscular junction	IMP	7531341
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0098655	Process	Cation transmembrane transport	IEA
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IDA	7531341
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	7531341

Other IDs

• MIM: 100725
• HGNC: 1966
• e!Ensembl: ENSG00000108556

Protein

• UniProt ID: Q04844
• Protein name: Acetylcholine receptor subunit epsilon
• Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	24 → 240	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	247 → 474	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL
  ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF
  GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF
  AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
  LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
  VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP
  EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV
  RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
  RVPDLPYAPCIQP

• Sequence length: 493

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

Associated diseases

Causal
Disease name	Disease term	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
Bernard soulier syndrome	Bernard-Soulier Syndrome, BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT, BERNARD-SOULIER SYNDROME, TYPE A1	rs121908061, rs121908063, rs121908065, rs267606849, rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121909750, rs121909752, rs730882059, rs587783648, rs1394634674, rs1555549041, rs1297298519, rs1597638598, rs1597638745, rs1601248210, rs1601248889, rs1360071443, rs1601249021, rs763978422
Myasthenic syndrome	Myasthenic Syndrome, Congenital, Fast-Channel, Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL	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	9708546, 29383513, 29054425, 15322984, 10534268, 21150643, 15951177, 27717316, 9158150, 20562457, 21175599, 10514102, 9158150, 16550914, 9668239, 21175599, 10962020, 8755487, 21175599, 22592360, 12141316, 27375219, 8872460, 21822932, 9158150, 21175599, 8755487, 7531341, 14592868, 7538206, 22678886, 27779167, 12417530
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Macrothrombocytopenia	Macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302, rs2146392848, rs121909750, rs121909751, rs121909752, rs80338830, rs387907345, rs387907348, rs387907350, rs797044804, rs1057517996, rs1321659356, rs1184544985, rs1603484047, rs1603484048, rs1297298519, rs1594756590, rs747559032, rs1598377980, rs1597638300, rs1597638379, rs1597638745, rs1601239696, rs1601248210, rs1601248859, rs1360071443, rs1254692009, rs1598700249, rs1601238563, rs1601247763, rs1601248245, rs1601248530, rs770554119	31064749
Myasthenia gravis	Myasthenias, MYASTHENIA, FAMILIAL INFANTILE, 1	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Von willebrand disorder	Von Willebrand disease, platelet type	rs61750584, rs61750117, rs61750579, rs61749392, rs61749384, rs61749387, rs61749397, rs61749403, rs61748477, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs61749398, rs61749372, rs61749393, rs62643632, rs121964895, rs61748511, rs61750630, rs61754010, rs121908062, rs121908064, rs267607326, rs61748467, rs61753984, rs61754003, rs62643625, rs267607305, rs61754009, rs61748460, rs267607309, rs61748463, rs61748464, rs62643619, rs62643628, rs61748465, rs61748466, rs61748480, rs61748481, rs61748482, rs61753988, rs267607312, rs61748496, rs267607314, rs267607316, rs267607321, rs2363337, rs267607324, rs267607328, rs267607332, rs61749364, rs61749366, rs61749371, rs61749375, rs61749377, rs61749379, rs267607334, rs267607335, rs61749385, rs61749386, rs61749389, rs61749390, rs267607337, rs61749394, rs61749395, rs61749396, rs61749400, rs61749402, rs61749405, rs61749407, rs61749408, rs61750069, rs61750071, rs61750072, rs61750074, rs61750077, rs61753992, rs61750078, rs61750081, rs61750083, rs61750084, rs61753994, rs61750100, rs61750103, rs267607340, rs267607343, rs267607344, rs267607345, rs61750110, rs267607349, rs61750577, rs61750596, rs267607352, rs61750605, rs267607301, rs61750606, rs267607355, rs61750614, rs62643623, rs61750620, rs62643624, rs61750624, rs61750626, rs267607358, rs267607359, rs62643640, rs61751286, rs61751288, rs267607363, rs61751297, rs267607364, rs267607365, rs61751301, rs267607366, rs63749067, rs61751303, rs61751304, rs61753997, rs61751305, rs61753998, rs267607368, rs61754000, rs373787920, rs1555194979, rs762105711, rs1591834850, rs1591836930, rs139864572, rs1591838792, rs1591838814, rs1591838833, rs1591841452, rs111597150, rs1591848387, rs61750610, rs1591862022, rs1591862342, rs1591862366, rs1591863294, rs1591865617, rs1591870340, rs1591874316, rs1591886521, rs761288966, rs1591890769, rs1591895308, rs147924974, rs751286556, rs746457842, rs1591895879, rs1591914708, rs1591857613, rs1591924208, rs1591924188, rs746482504, rs772203447, rs1591858979, rs375655409

Unknown
Disease name	Disease term	dbSNP ID	References
Bulbar palsy	Bulbar palsy
Dysarthria	Dysarthria
Dysphagia	Deglutition Disorders
Facial paralysis	Facial paralysis
High palate	Byzanthine arch palate
Malocclusion	Class III malocclusion
Motor delay	Clumsiness - motor delay
Ptosis	Blepharoptosis, Ptosis	rs139920573
Respiratory failure	Respiratory Failure
Strabismus	Strabismus
Sudden episodic apnea	Sudden episodic apnea