NSMCE2 (NSE2 SUMO ligase component of SMC5/6 complex)

Gene

• Entrez ID: 286053
• Gene name: NSE2 SUMO ligase component of SMC5/6 complex
• Gene symbol: NSMCE2
• Synonyms (NCBI Gene): C8orf36, MMS21, NSE2, ZMIZ7
• Chromosome: 8
• Chromosome location: 8q24.13
• Summary: This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs757613817	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs760514663	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs773917653	->AGGG	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT677444	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT677443	hsa-miR-3159	HITS-CLIP	23824327
MIRT677442	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT677441	hsa-miR-764	HITS-CLIP	23824327
MIRT677440	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT677439	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT677438	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT677437	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677436	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677435	hsa-miR-1976	HITS-CLIP	23824327
MIRT677434	hsa-miR-5095	HITS-CLIP	23824327
MIRT677433	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT677444	hsa-miR-552-3p	HITS-CLIP	23824327
MIRT677443	hsa-miR-3159	HITS-CLIP	23824327
MIRT677442	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT677441	hsa-miR-764	HITS-CLIP	23824327
MIRT677440	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT677439	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT677438	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT677437	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677436	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677435	hsa-miR-1976	HITS-CLIP	23824327
MIRT677434	hsa-miR-5095	HITS-CLIP	23824327
MIRT677433	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT1195360	hsa-let-7a	CLIP-seq
MIRT1195361	hsa-let-7b	CLIP-seq
MIRT1195362	hsa-let-7c	CLIP-seq
MIRT1195363	hsa-let-7d	CLIP-seq
MIRT1195364	hsa-let-7e	CLIP-seq
MIRT1195365	hsa-let-7f	CLIP-seq
MIRT1195366	hsa-let-7g	CLIP-seq
MIRT1195367	hsa-let-7i	CLIP-seq
MIRT1195368	hsa-miR-1207-3p	CLIP-seq
MIRT1195369	hsa-miR-1324	CLIP-seq
MIRT1195370	hsa-miR-138	CLIP-seq
MIRT1195371	hsa-miR-3065-3p	CLIP-seq
MIRT1195372	hsa-miR-3929	CLIP-seq
MIRT1195373	hsa-miR-421	CLIP-seq
MIRT1195374	hsa-miR-4266	CLIP-seq
MIRT1195375	hsa-miR-4419b	CLIP-seq
MIRT1195376	hsa-miR-4458	CLIP-seq
MIRT1195377	hsa-miR-4478	CLIP-seq
MIRT1195378	hsa-miR-4500	CLIP-seq
MIRT1195379	hsa-miR-4695-5p	CLIP-seq
MIRT1195380	hsa-miR-4709-5p	CLIP-seq
MIRT1195381	hsa-miR-4731-5p	CLIP-seq
MIRT1195382	hsa-miR-4779	CLIP-seq
MIRT1195383	hsa-miR-615-5p	CLIP-seq
MIRT1195384	hsa-miR-98	CLIP-seq
MIRT1195360	hsa-let-7a	CLIP-seq
MIRT1195361	hsa-let-7b	CLIP-seq
MIRT1195362	hsa-let-7c	CLIP-seq
MIRT1195363	hsa-let-7d	CLIP-seq
MIRT1195364	hsa-let-7e	CLIP-seq
MIRT1195365	hsa-let-7f	CLIP-seq
MIRT1195366	hsa-let-7g	CLIP-seq
MIRT1195367	hsa-let-7i	CLIP-seq
MIRT1195368	hsa-miR-1207-3p	CLIP-seq
MIRT2285127	hsa-miR-1305	CLIP-seq
MIRT1195369	hsa-miR-1324	CLIP-seq
MIRT1195370	hsa-miR-138	CLIP-seq
MIRT1195371	hsa-miR-3065-3p	CLIP-seq
MIRT1195372	hsa-miR-3929	CLIP-seq
MIRT1195373	hsa-miR-421	CLIP-seq
MIRT1195374	hsa-miR-4266	CLIP-seq
MIRT2285128	hsa-miR-4307	CLIP-seq
MIRT1195375	hsa-miR-4419b	CLIP-seq
MIRT1195376	hsa-miR-4458	CLIP-seq
MIRT1195377	hsa-miR-4478	CLIP-seq
MIRT1195378	hsa-miR-4500	CLIP-seq
MIRT1195379	hsa-miR-4695-5p	CLIP-seq
MIRT1195380	hsa-miR-4709-5p	CLIP-seq
MIRT1195381	hsa-miR-4731-5p	CLIP-seq
MIRT1195382	hsa-miR-4779	CLIP-seq
MIRT2285129	hsa-miR-4789-3p	CLIP-seq
MIRT2285130	hsa-miR-498	CLIP-seq
MIRT1195384	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000722	Process	Telomere maintenance via recombination	IMP	17589526
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	16810316
GO:0000781	Component	Chromosome, telomeric region	IDA	17589526
GO:0005515	Function	Protein binding	IPI	18086888, 25416956, 26496610, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	16810316
GO:0007049	Process	Cell cycle	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016605	Component	PML body	IDA	17589526
GO:0016925	Process	Protein sumoylation	IBA	21873635
GO:0016925	Process	Protein sumoylation	IEA
GO:0019789	Function	SUMO transferase activity	EXP	16055714, 16810316, 22751501
GO:0019789	Function	SUMO transferase activity	IDA	17589526
GO:0030915	Component	Smc5-Smc6 complex	IBA	21873635
GO:0030915	Component	Smc5-Smc6 complex	IDA	18086888
GO:0034184	Process	Positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	19502785
GO:0045842	Process	Positive regulation of mitotic metaphase/anaphase transition	IMP	19502785
GO:0051301	Process	Cell division	IEA
GO:0061665	Function	SUMO ligase activity	IBA	21873635
GO:0090398	Process	Cellular senescence	IMP	17589526

Other IDs

• MIM: 617246
• HGNC: 26513
• e!Ensembl: ENSG00000156831

Protein

• UniProt ID: Q96MF7
• Protein name: E3 SUMO-protein ligase NSE2 (EC 2.3.2.-) (E3 SUMO-protein transferase NSE2) (MMS21 homolog) (hMMS21) (Non-structural maintenance of chromosomes element 2 homolog) (Non-SMC element 2 homolog)
• Protein function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination (PubMed:16055714, PubMed:16810316). Is not be required for the stability of the complex (PubMed:16055714,
• PDB: 2YU4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11789	zf-Nse	156 → 216	Zinc-finger of the MIZ type in Nse subunit	Domain

• Sequence:

  MPGRSSSNSGSTGFISFSGVESALSSLKNFQACINSGMDTASSVALDLVESQTEVSSEYS
  MDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKKFLALQSKNSDADF
  QNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPV
  KNKVCGHTYEEDAIVRMIESRQKRKKKAYCPQIGCSHTDIRKSDLIQDEALRRAIENHNK
  KRHRHSE

• Sequence length: 247

Pathways

Reactome:

SUMOylation of DNA damage response and repair proteins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm, Abdominal	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hypertension	Hypertensive disease	rs13306026
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	rs121913142
Microcephaly	Microcephaly	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
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	27846195
Seckel syndrome	SECKEL SYNDROME 10	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	25105364

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar
Congestive heart failure	Congestive heart failure			ClinVar
Pancreatitis	Acute pancreatitis			ClinVar
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	microcephalic primordial dwarfism-insulin resistance syndrome			GenCC
Seckel Syndrome	Seckel syndrome 10			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Psoriasis	Psoriasis			GWAS
Alzheimer disease	Alzheimer disease			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bantu siderosis	Associate	30654714
Breast Neoplasms	Associate	36224576
Calcinosis Cutis	Associate	30654714
Cap Myopathy	Associate	22234922
Colorectal Neoplasms	Associate	19520795
Leukemia	Associate	25245984
Leukemia Myeloid Acute	Associate	25245984
Prostatic Neoplasms	Associate	17978284, 22234922
Thyroid Neoplasms	Associate	30654714
Urinary Bladder Neoplasms	Associate	21051319