COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

Gene

• Entrez ID: 8292
• Gene name: Collagen like tail subunit of asymmetric acetylcholinesterase
• Gene symbol: COLQ
• Synonyms (NCBI Gene): CMS5, EAD
• Disease Acronyms (UniProt): CMS5
• Chromosome: 3
• Chromosome location: 3p25.1
• Summary: This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcho

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893733	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893734	G>C	Pathogenic	Stop gained, coding sequence variant
rs104893735	C>A	Pathogenic	Stop gained, coding sequence variant
rs121908922	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121908923	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121908924	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs139574075	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs143766249	G>A,C	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs149020371	C>G	Pathogenic	Splice donor variant
rs185829251	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs199470447	C>T	Pathogenic	Splice acceptor variant, intron variant
rs201376373	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs375215281	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs747648795	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755236236	T>C	Pathogenic	Splice acceptor variant
rs759911990	->G	Pathogenic	Frameshift variant, coding sequence variant
rs769982050	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs770045897	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs771879602	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs777102590	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs971863968	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057521153	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795839	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307792	C>T	Pathogenic	Splice donor variant
rs1269227357	C>T	Likely-pathogenic	Splice acceptor variant
rs1306593300	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1369980189	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1384843815	T>C	Pathogenic	Intron variant
rs1553634790	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559510978	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1559519107	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575460231	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1575482936	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017367	hsa-miR-335-5p	Microarray	18185580
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903267	hsa-miR-1273g	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903272	hsa-miR-376a	CLIP-seq
MIRT903273	hsa-miR-376b	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903276	hsa-miR-670	CLIP-seq
MIRT903277	hsa-miR-1207-3p	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT903279	hsa-miR-1470	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903282	hsa-miR-3165	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT903283	hsa-miR-3657	CLIP-seq
MIRT903284	hsa-miR-4267	CLIP-seq
MIRT903285	hsa-miR-4490	CLIP-seq
MIRT903286	hsa-miR-4640-5p	CLIP-seq
MIRT903287	hsa-miR-4667-3p	CLIP-seq
MIRT903288	hsa-miR-4726-5p	CLIP-seq
MIRT903289	hsa-miR-483-5p	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT903290	hsa-miR-766	CLIP-seq
MIRT903291	hsa-miR-1207-5p	CLIP-seq
MIRT903292	hsa-miR-1271	CLIP-seq
MIRT903293	hsa-miR-182	CLIP-seq
MIRT903294	hsa-miR-3121-5p	CLIP-seq
MIRT903295	hsa-miR-320a	CLIP-seq
MIRT903296	hsa-miR-320b	CLIP-seq
MIRT903297	hsa-miR-320c	CLIP-seq
MIRT903298	hsa-miR-320d	CLIP-seq
MIRT903299	hsa-miR-330-3p	CLIP-seq
MIRT903300	hsa-miR-4429	CLIP-seq
MIRT903301	hsa-miR-4677-3p	CLIP-seq
MIRT903302	hsa-miR-4736	CLIP-seq
MIRT903303	hsa-miR-4763-3p	CLIP-seq
MIRT903304	hsa-miR-657	CLIP-seq
MIRT903305	hsa-miR-96	CLIP-seq
MIRT2203688	hsa-miR-106a	CLIP-seq
MIRT2203689	hsa-miR-106b	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903268	hsa-miR-1285	CLIP-seq
MIRT903269	hsa-miR-1343	CLIP-seq
MIRT2203690	hsa-miR-17	CLIP-seq
MIRT2203691	hsa-miR-20a	CLIP-seq
MIRT2203692	hsa-miR-20b	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT903270	hsa-miR-3074-5p	CLIP-seq
MIRT903271	hsa-miR-3187-5p	CLIP-seq
MIRT2203693	hsa-miR-3672	CLIP-seq
MIRT903274	hsa-miR-4691-3p	CLIP-seq
MIRT2203694	hsa-miR-4797-3p	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq
MIRT2203697	hsa-miR-519a	CLIP-seq
MIRT2203698	hsa-miR-519b-3p	CLIP-seq
MIRT2203699	hsa-miR-519c-3p	CLIP-seq
MIRT2203700	hsa-miR-519d	CLIP-seq
MIRT2203701	hsa-miR-520g	CLIP-seq
MIRT2203702	hsa-miR-520h	CLIP-seq
MIRT903275	hsa-miR-612	CLIP-seq
MIRT2203703	hsa-miR-93	CLIP-seq
MIRT2386357	hsa-miR-1253	CLIP-seq
MIRT2386358	hsa-miR-4251	CLIP-seq
MIRT2386359	hsa-miR-4675	CLIP-seq
MIRT2386360	hsa-miR-4741	CLIP-seq
MIRT903266	hsa-miR-1264	CLIP-seq
MIRT903278	hsa-miR-128	CLIP-seq
MIRT903280	hsa-miR-27a	CLIP-seq
MIRT903281	hsa-miR-27b	CLIP-seq
MIRT2203695	hsa-miR-5096	CLIP-seq
MIRT2203696	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001507	Process	Acetylcholine catabolic process in synaptic cleft	TAS	9689136
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	15526038, 32296183
GO:0005581	Component	Collagen trimer	IEA
GO:0005604	Component	Basement membrane	TAS	9689136
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0008201	Function	Heparin binding	IBA	21873635
GO:0030054	Component	Cell junction	IDA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0043083	Component	Synaptic cleft	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231

Other IDs

• MIM: 603033
• HGNC: 2226
• e!Ensembl: ENSG00000206561

Protein

• UniProt ID: Q9Y215
• Protein name: Acetylcholinesterase collagenic tail peptide (AChE Q subunit) (Acetylcholinesterase-associated collagen)
• Protein function: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
• PDB: 1VZJ
• Tissue specificity: TISSUE SPECIFICITY: Found at the end plate of skeletal muscle.
• Sequence:

  MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP
  LFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKG
  EKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPG
  SRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQG
  QKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVN
  NPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLT
  PFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGS
  DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT

• Sequence length: 455

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental 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
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
Myasthenic syndrome	Myasthenic Syndromes, Congenital	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	9689136, 24281389, 22678886
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
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Myasthenic Syndrome	congenital myasthenic syndrome 5			GenCC
Pancreatic cancer	Pancreatic cancer	Genome-Wide CRISPR Screening Identifies DCK and CCNL1 as Genes That Contribute to Gemcitabine Resistance in Pancreatic Cancer		GWAS, CBGDA
Diverticulitis	Diverticulitis			GWAS
Alzheimer disease	Alzheimer disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atrial Fibrillation	Associate	34737791
Congenital disorder of glycosylation type 1C	Associate	9758617
Congenital myasthenic syndrome ib	Associate	33353066
Diverticular Diseases	Associate	28585551
Diverticulitis	Associate	28585551
Drug Related Side Effects and Adverse Reactions	Stimulate	15015577
Endplate Acetylcholinesterase Deficiency	Associate	22088788, 26282582, 33370874, 34553317, 9758617
Epstein Barr Virus Infections	Associate	1316087, 36286483, 38146370
Lupus Erythematosus Systemic	Associate	37841281, 38146370
Muscle Weakness	Associate	22088788
Myasthenic Syndromes Congenital	Associate	20562457, 22088788, 25557462, 26282582, 28024842, 33353066, 33370874, 33756069, 34553317, 36308527, 37721175, 9758617
Neuromuscular Junction Diseases	Associate	9758617
Pain	Associate	29395675
Salter Harris Fractures	Associate	9758617
Urinary Bladder Neoplasms	Associate	35958598