ANKLE2 (ankyrin repeat and LEM domain containing 2)

Gene

• Entrez ID: 23141
• Gene name: Ankyrin repeat and LEM domain containing 2
• Gene symbol: ANKLE2
• Synonyms (NCBI Gene): KIAA0692, LEMD7, Lem4, MCPH16
• Disease Acronyms (UniProt): MCPH16
• Chromosome: 12
• Chromosome location: 12q24.33
• Summary: This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear env

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201785518	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained, downstream transcript variant
rs863225465	G>C	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1185537869	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031684	hsa-miR-16-5p	Proteomics	18668040
MIRT049020	hsa-miR-92a-3p	CLASH	23622248
MIRT782320	hsa-miR-1231	CLIP-seq
MIRT782321	hsa-miR-1303	CLIP-seq
MIRT782322	hsa-miR-146a	CLIP-seq
MIRT782323	hsa-miR-146b-5p	CLIP-seq
MIRT782324	hsa-miR-1539	CLIP-seq
MIRT782325	hsa-miR-188-5p	CLIP-seq
MIRT782326	hsa-miR-18a	CLIP-seq
MIRT782327	hsa-miR-18b	CLIP-seq
MIRT782328	hsa-miR-191	CLIP-seq
MIRT782329	hsa-miR-3120-5p	CLIP-seq
MIRT782330	hsa-miR-3123	CLIP-seq
MIRT782331	hsa-miR-3185	CLIP-seq
MIRT782332	hsa-miR-3192	CLIP-seq
MIRT782333	hsa-miR-3193	CLIP-seq
MIRT782334	hsa-miR-339-5p	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT782336	hsa-miR-3646	CLIP-seq
MIRT782337	hsa-miR-3662	CLIP-seq
MIRT782338	hsa-miR-3670	CLIP-seq
MIRT782339	hsa-miR-3908	CLIP-seq
MIRT782340	hsa-miR-3920	CLIP-seq
MIRT782341	hsa-miR-3925-5p	CLIP-seq
MIRT782342	hsa-miR-3942-5p	CLIP-seq
MIRT782343	hsa-miR-4261	CLIP-seq
MIRT782344	hsa-miR-4268	CLIP-seq
MIRT782345	hsa-miR-4314	CLIP-seq
MIRT782346	hsa-miR-4422	CLIP-seq
MIRT782347	hsa-miR-4448	CLIP-seq
MIRT782348	hsa-miR-450b-3p	CLIP-seq
MIRT782349	hsa-miR-4523	CLIP-seq
MIRT782350	hsa-miR-4645-3p	CLIP-seq
MIRT782351	hsa-miR-4646-5p	CLIP-seq
MIRT782352	hsa-miR-4652-3p	CLIP-seq
MIRT782353	hsa-miR-4663	CLIP-seq
MIRT782354	hsa-miR-4670-3p	CLIP-seq
MIRT782355	hsa-miR-4703-5p	CLIP-seq
MIRT782356	hsa-miR-4713-3p	CLIP-seq
MIRT782357	hsa-miR-4735-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT782359	hsa-miR-4762-3p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT782361	hsa-miR-4774-5p	CLIP-seq
MIRT782362	hsa-miR-4777-5p	CLIP-seq
MIRT782363	hsa-miR-4778-5p	CLIP-seq
MIRT782364	hsa-miR-483-3p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT782366	hsa-miR-495	CLIP-seq
MIRT782367	hsa-miR-514	CLIP-seq
MIRT782368	hsa-miR-514b-3p	CLIP-seq
MIRT782369	hsa-miR-532-3p	CLIP-seq
MIRT782370	hsa-miR-541	CLIP-seq
MIRT782371	hsa-miR-548c-3p	CLIP-seq
MIRT782372	hsa-miR-548p	CLIP-seq
MIRT782373	hsa-miR-566	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT782375	hsa-miR-579	CLIP-seq
MIRT782376	hsa-miR-580	CLIP-seq
MIRT782377	hsa-miR-589	CLIP-seq
MIRT782378	hsa-miR-629	CLIP-seq
MIRT782379	hsa-miR-638	CLIP-seq
MIRT782380	hsa-miR-654-5p	CLIP-seq
MIRT782381	hsa-miR-662	CLIP-seq
MIRT782382	hsa-miR-769-3p	CLIP-seq
MIRT782383	hsa-miR-889	CLIP-seq
MIRT782384	hsa-miR-934	CLIP-seq
MIRT1930936	hsa-miR-1228	CLIP-seq
MIRT1930937	hsa-miR-1229	CLIP-seq
MIRT1930938	hsa-miR-149	CLIP-seq
MIRT1930939	hsa-miR-3140-5p	CLIP-seq
MIRT1930940	hsa-miR-338-5p	CLIP-seq
MIRT1930941	hsa-miR-342-3p	CLIP-seq
MIRT782337	hsa-miR-3662	CLIP-seq
MIRT1930942	hsa-miR-3942-3p	CLIP-seq
MIRT1930943	hsa-miR-4282	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT1930945	hsa-miR-4786-5p	CLIP-seq
MIRT1930946	hsa-miR-4799-5p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT1930947	hsa-miR-769-5p	CLIP-seq
MIRT1930948	hsa-miR-885-5p	CLIP-seq
MIRT2171466	hsa-miR-124	CLIP-seq
MIRT2171467	hsa-miR-140-3p	CLIP-seq
MIRT782325	hsa-miR-188-5p	CLIP-seq
MIRT782328	hsa-miR-191	CLIP-seq
MIRT2171468	hsa-miR-203	CLIP-seq
MIRT2171469	hsa-miR-3065-3p	CLIP-seq
MIRT782329	hsa-miR-3120-5p	CLIP-seq
MIRT2171470	hsa-miR-3145-3p	CLIP-seq
MIRT2171471	hsa-miR-3163	CLIP-seq
MIRT2171472	hsa-miR-3180-5p	CLIP-seq
MIRT782334	hsa-miR-339-5p	CLIP-seq
MIRT2171473	hsa-miR-340	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT2171474	hsa-miR-377	CLIP-seq
MIRT2171475	hsa-miR-4469	CLIP-seq
MIRT2171476	hsa-miR-4539	CLIP-seq
MIRT782354	hsa-miR-4670-3p	CLIP-seq
MIRT2171477	hsa-miR-4683	CLIP-seq
MIRT2171478	hsa-miR-4700-3p	CLIP-seq
MIRT2171479	hsa-miR-4717-3p	CLIP-seq
MIRT2171480	hsa-miR-4727-5p	CLIP-seq
MIRT2171481	hsa-miR-4733-5p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT2171482	hsa-miR-4768-3p	CLIP-seq
MIRT2171483	hsa-miR-4769-3p	CLIP-seq
MIRT2171484	hsa-miR-4802-3p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT2171485	hsa-miR-506	CLIP-seq
MIRT2171486	hsa-miR-520a-5p	CLIP-seq
MIRT2171487	hsa-miR-525-5p	CLIP-seq
MIRT2171488	hsa-miR-548an	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT2171489	hsa-miR-642a	CLIP-seq
MIRT2443657	hsa-miR-3655	CLIP-seq
MIRT2474436	hsa-miR-1245b-3p	CLIP-seq
MIRT2474437	hsa-miR-1297	CLIP-seq
MIRT2474438	hsa-miR-1298	CLIP-seq
MIRT2171467	hsa-miR-140-3p	CLIP-seq
MIRT2474439	hsa-miR-154	CLIP-seq
MIRT2474440	hsa-miR-205	CLIP-seq
MIRT2474441	hsa-miR-26a	CLIP-seq
MIRT2474442	hsa-miR-26b	CLIP-seq
MIRT2474443	hsa-miR-3141	CLIP-seq
MIRT2474444	hsa-miR-3665	CLIP-seq
MIRT2171474	hsa-miR-377	CLIP-seq
MIRT2474445	hsa-miR-4465	CLIP-seq
MIRT2474446	hsa-miR-4710	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT2474447	hsa-miR-4792	CLIP-seq
MIRT2474448	hsa-miR-657	CLIP-seq
MIRT782321	hsa-miR-1303	CLIP-seq
MIRT782330	hsa-miR-3123	CLIP-seq
MIRT2474443	hsa-miR-3141	CLIP-seq
MIRT1930940	hsa-miR-338-5p	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT782341	hsa-miR-3925-5p	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22770216
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0007084	Process	Mitotic nuclear envelope reassembly	IMP	22770216
GO:0007084	Process	Mitotic nuclear envelope reassembly	TAS
GO:0007417	Process	Central nervous system development	IDA	25259927
GO:0016020	Component	Membrane	HDA	19946888
GO:0019888	Function	Protein phosphatase regulator activity	TAS	22770216
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	22770216
GO:0035307	Process	Positive regulation of protein dephosphorylation	IBA	21873635
GO:0035307	Process	Positive regulation of protein dephosphorylation	IDA	22770216
GO:0042326	Process	Negative regulation of phosphorylation	IBA	21873635
GO:0042326	Process	Negative regulation of phosphorylation	IDA	22770216
GO:0043066	Process	Negative regulation of apoptotic process	IDA	25259927
GO:0043666	Process	Regulation of phosphoprotein phosphatase activity	IEA
GO:0050790	Process	Regulation of catalytic activity	TAS	22770216
GO:0051301	Process	Cell division	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IBA	21873635
GO:0051721	Function	Protein phosphatase 2A binding	IDA	22770216

Other IDs

• MIM: 616062
• HGNC: 29101
• e!Ensembl: ENSG00000176915

Protein

• UniProt ID: Q86XL3
• Protein name: Ankyrin repeat and LEM domain-containing protein 2 (LEM domain-containing protein 4)
• Protein function: Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit (PubMed:22770216). Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03020	LEM	72 → 110	LEM domain	Domain
  PF01693	Cauli_VI	211 → 249	Caulimovirus viroplasmin	Family

• Sequence:

  MLWPRLAAAEWAALAWELLGASVLLIAVRWLVRRLGPRPGGLGRSGTPVPPPSAAAAPAS
  GEMTMDALLARLKLLNPDDLREEIVKAGLKCGPITSTTRFIFEKKLAQALLEQGGRLSSF
  YHHEAGVTALSQDPQRILKPAEGNPTDQAGFSEDRDFGYSVGLNPPEEEAVTSKTCSVPP
  SDTDTYRAGATASKEPPLYYGVCPVYEDVPARNERIYVYENKKEALQAVKMIKGSRFKAF
  STREDAEKFARGICDYFPSPSKTSLPLSPVKTAPLFSNDRLKDGLCLSESETVNKERANS
  YKNPRTQDLTAKLRKAVEKGEEDTFSDLIWSNPRYLIGSGDNPTIVQEGCRYNVMHVAAK
  ENQASICQLTLDVLENPDFMRLMYPDDDEAMLQKRIRYVVDLYLNTPDKMGYDTPLHFAC
  KFGNADVVNVLSSHHLIVKNSRNKYDKTPEDVICERSKNKSVELKERIREYLKGHYYVPL
  LRAEETSSPVIGELWSPDQTAEASHVSRYGGSPRDPVLTLRAFAGPLSPAKAEDFRKLWK
  TPPREKAGFLHHVKKSDPERGFERVGRELAHELGYPWVEYWEFLGCFVDLSSQEGLQRLE
  EYLTQQEIGKKAQQETGEREASCRDKATTSGSNSISVRAFLDEDDMSLEEIKNRQNAARN
  NSPPTVGAFGHTRCSAFPLEQEADLIEAAEPGGPHSSRNGLCHPLNHSRTLAGKRPKAPR
  GEEAHLPPVSDLTVEFDKLNLQNIGRSVSKTPDESTKTKDQILTSRINAVERDLLEPSPA
  DQLGNGHRRTESEMSARIAKMSLSPSSPRHEDQLEVTREPARRLFLFGEEPSKLDQDVLA
  ALECADVDPHQFPAVHRWKSAVLCYSPSDRQSWPSPAVKGRFKSQLPDLSGPHSYSPGRN
  SVAGSNPAKPGLGSPGRYSPVHGSQLRRMARLAELAAL

• Sequence length: 938

Pathways

Reactome:

Initiation of Nuclear Envelope (NE) Reformation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Mental retardation	Severe 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
Microcephaly	Microcephaly, Autosomal Recessive Primary Microcephaly, Autosomal recessive primary microcephaly, MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	25259927
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Microcephaly	Associate	30214071
Neoplasms	Associate	35619151
Ovarian Neoplasms	Associate	35619151