LNPK (lunapark, ER junction formation factor)

Gene

• Entrez ID: 80856
• Gene name: Lunapark, ER junction formation factor
• Gene symbol: LNPK
• Synonyms (NCBI Gene): KIAA1715, LNP, LNP1, NEDEHCC, Ul, ulnaless
• Disease Acronyms (UniProt): NEDEHCC
• Chromosome: 2
• Chromosome location: 2q31.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1391644554	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553498948	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT675550	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT675549	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT675548	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT675547	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT675546	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT675545	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT675544	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT675543	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT675542	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT675541	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT675540	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT675539	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT675538	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT675537	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT649215	hsa-miR-4438	HITS-CLIP	23824327
MIRT649214	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT649213	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649212	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT649211	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649210	hsa-miR-1913	HITS-CLIP	23824327
MIRT649209	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT649208	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT667706	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT649207	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT649206	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT649205	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT649204	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT649203	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT649202	hsa-miR-5095	HITS-CLIP	23824327
MIRT649201	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT649200	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT649198	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT649199	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT649215	hsa-miR-4438	HITS-CLIP	23824327
MIRT649214	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT649213	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT649212	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT649211	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT649210	hsa-miR-1913	HITS-CLIP	23824327
MIRT649209	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT649208	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT649207	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT649206	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT649205	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT649204	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT649203	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT649202	hsa-miR-5095	HITS-CLIP	23824327
MIRT649201	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT649200	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT649199	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT649198	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT545407	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT545406	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT545405	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT545404	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT545403	hsa-miR-208a-5p	PAR-CLIP	21572407
MIRT545402	hsa-miR-208b-5p	PAR-CLIP	21572407
MIRT545401	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT545400	hsa-miR-5692b	PAR-CLIP	21572407
MIRT545399	hsa-miR-5692c	PAR-CLIP	21572407
MIRT545398	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT545397	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT545396	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT545395	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT545407	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT545406	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT545405	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT545404	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT545403	hsa-miR-208a-5p	PAR-CLIP	21572407
MIRT545402	hsa-miR-208b-5p	PAR-CLIP	21572407
MIRT545401	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT545400	hsa-miR-5692b	PAR-CLIP	21572407
MIRT545399	hsa-miR-5692c	PAR-CLIP	21572407
MIRT545398	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT545397	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT545396	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT545395	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT490545	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490544	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490543	hsa-miR-6815-5p	PAR-CLIP	23592263
MIRT490542	hsa-miR-6865-5p	PAR-CLIP	23592263
MIRT490541	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT490540	hsa-miR-5693	PAR-CLIP	23592263
MIRT490539	hsa-miR-20b-3p	PAR-CLIP	23592263
MIRT490538	hsa-miR-6134	PAR-CLIP	23592263
MIRT490537	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT490536	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT490535	hsa-miR-3689d	PAR-CLIP	23592263
MIRT490534	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT490533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT490532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT490531	hsa-miR-4736	PAR-CLIP	23592263
MIRT490530	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT490529	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT490528	hsa-miR-449a	PAR-CLIP	23592263
MIRT490527	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT490526	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT490525	hsa-miR-7974	PAR-CLIP	23592263
MIRT490524	hsa-miR-4687-3p	PAR-CLIP	23592263
MIRT490523	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT490522	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490521	hsa-miR-5698	PAR-CLIP	23592263
MIRT490520	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490519	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490518	hsa-miR-3688-5p	PAR-CLIP	23592263
MIRT490517	hsa-miR-891a-3p	PAR-CLIP	23592263
MIRT490516	hsa-miR-644a	PAR-CLIP	23592263
MIRT490514	hsa-miR-7150	PAR-CLIP	23592263
MIRT447494	hsa-miR-1276	PAR-CLIP	22100165
MIRT447493	hsa-miR-3163	PAR-CLIP	22100165
MIRT447492	hsa-miR-4528	PAR-CLIP	22100165
MIRT447491	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT447490	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT447489	hsa-miR-6086	PAR-CLIP	22100165
MIRT447488	hsa-miR-6847-3p	PAR-CLIP	22100165
MIRT447487	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT735790	hsa-miR-126-3p	Luciferase reporter assay, Western blotting	33501603

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24223779
GO:0007029	Process	Endoplasmic reticulum organization	IMP	30032983
GO:0007596	Process	Blood coagulation	IEA
GO:0016021	Component	Integral component of membrane	NAS	12732147
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	24223779
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IDA	27619977
GO:0046872	Function	Metal ion binding	IEA
GO:0060173	Process	Limb development	NAS	12732147
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA	21873635
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA	21873635
GO:0071788	Process	Endoplasmic reticulum tubular network maintenance	IMP	25548161, 27619977
GO:0098826	Component	Endoplasmic reticulum tubular network membrane	IDA	24223779, 25404289, 25548161, 27619977
GO:1903373	Process	Positive regulation of endoplasmic reticulum tubular network organization	IMP	24223779, 25404289

Other IDs

• MIM: 610236
• HGNC: 21610
• e!Ensembl: ENSG00000144320

Protein

• UniProt ID: Q9C0E8
• Protein name: Endoplasmic reticulum junction formation protein lunapark (ER junction formation factor lunapark)
• Protein function: Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10058	zinc_ribbon_10	255 → 305	Predicted integral membrane zinc-ribbon metal-binding protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neural precursor cells, where it is detected at the growth-cone-like structure and branching sites of neurite-like processes. {ECO:0000269|PubMed:30032983}.
• Sequence:

  MGGLFSRWRTKPSTVEVLESIDKEIQALEEFREKNQRLQKLWVGRLILYSSVLYLFTCLI
  VYLWYLPDEFTARLAMTLPFFAFPLIIWSIRTVIIFFFSKRTERNNEALDDLKSQRKKIL
  EEVMEKETYKTAKLILERFDPDSKKAKECEPPSAGAAVTARPGQEIRQRTAAQRNLSPTP
  ASPNQGPPPQVPVSPGPPKDSSAPGGPPERTVTPALSSNVLPRHLGSPATSVPGMGLHPP
  GPPLARPILPRERGALDRIVEYLVGDGPQNRYALICQQCFSHNGMALKEEFEYIAFRCAY
  CFFLNPARKTRPQAPRLPEFSFEKRQVVEGSSSVGPLPSGSVLSSDNQFNEESLEHDVLD
  DNTEQTDDKIPATEQTNQVIEKASDSEEPEEKQETENEEASVIETNSTVPGADSIPDPEL
  SGESLTAE

• Sequence length: 428

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	30032983
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	30032983
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	rs1553498948, rs1391644554	30032983

Unknown
Disease term	Disease name	Evidence	References	Source
Pelvic Organ Prolapse	Pelvic Organ Prolapse			GWAS
Neuroticism	Neuroticism			GWAS
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Hepatic Veno Occlusive Disease	Associate	31790828
Neoplasm Metastasis	Inhibit	37087570
Neoplasms	Associate	37087570
Periodontitis	Associate	35179257