LLGL2 (LLGL scribble cell polarity complex component 2)

Gene

• Entrez ID: 3993
• Gene name: LLGL scribble cell polarity complex component 2
• Gene symbol: LLGL2
• Synonyms (NCBI Gene): HGL, Hugl-2, LGL2
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein`s ability to

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018037	hsa-miR-335-5p	Microarray	18185580
MIRT078708	hsa-miR-548ac	PAR-CLIP	21572407
MIRT078722	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT078700	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT078704	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT078707	hsa-miR-548z	PAR-CLIP	21572407
MIRT078709	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT078710	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT078711	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT078712	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT078716	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT078702	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT078705	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT078718	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT018037	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT550435	hsa-miR-4477a	PAR-CLIP	21572407
MIRT493304	hsa-miR-1295b-5p	PAR-CLIP	23592263
MIRT493303	hsa-miR-1912	PAR-CLIP	23592263
MIRT493302	hsa-miR-4747-3p	PAR-CLIP	23592263
MIRT493301	hsa-miR-1324	PAR-CLIP	23592263
MIRT493300	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT493299	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT493298	hsa-miR-3202	PAR-CLIP	23592263
MIRT493297	hsa-miR-1538	PAR-CLIP	23592263
MIRT493296	hsa-miR-4745-3p	PAR-CLIP	23592263
MIRT493295	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT493294	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT078708	hsa-miR-548ac	PAR-CLIP	21572407
MIRT078722	hsa-miR-548bb-3p	PAR-CLIP	21572407
MIRT078700	hsa-miR-548d-3p	PAR-CLIP	21572407
MIRT078704	hsa-miR-548h-3p	PAR-CLIP	21572407
MIRT078707	hsa-miR-548z	PAR-CLIP	21572407
MIRT078709	hsa-miR-548ae-3p	PAR-CLIP	21572407
MIRT078710	hsa-miR-548ah-3p	PAR-CLIP	21572407
MIRT078711	hsa-miR-548aj-3p	PAR-CLIP	21572407
MIRT078712	hsa-miR-548am-3p	PAR-CLIP	21572407
MIRT078716	hsa-miR-548aq-3p	PAR-CLIP	21572407
MIRT078702	hsa-miR-548j-3p	PAR-CLIP	21572407
MIRT078705	hsa-miR-548x-3p	PAR-CLIP	21572407
MIRT078718	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT018037	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT550435	hsa-miR-4477a	PAR-CLIP	21572407
MIRT493304	hsa-miR-1295b-5p	PAR-CLIP	23592263
MIRT493303	hsa-miR-1912	PAR-CLIP	23592263
MIRT493302	hsa-miR-4747-3p	PAR-CLIP	23592263
MIRT493301	hsa-miR-1324	PAR-CLIP	23592263
MIRT493300	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT493299	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT493298	hsa-miR-3202	PAR-CLIP	23592263
MIRT493297	hsa-miR-1538	PAR-CLIP	23592263
MIRT493296	hsa-miR-4745-3p	PAR-CLIP	23592263
MIRT493295	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT493294	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT1110887	hsa-miR-1343	CLIP-seq
MIRT1110888	hsa-miR-188-3p	CLIP-seq
MIRT1110889	hsa-miR-1913	CLIP-seq
MIRT1110890	hsa-miR-198	CLIP-seq
MIRT1110891	hsa-miR-3130-3p	CLIP-seq
MIRT1110892	hsa-miR-3170	CLIP-seq
MIRT1110893	hsa-miR-3189-5p	CLIP-seq
MIRT1110894	hsa-miR-324-3p	CLIP-seq
MIRT1110895	hsa-miR-3545-3p	CLIP-seq
MIRT1110896	hsa-miR-3652	CLIP-seq
MIRT1110897	hsa-miR-378	CLIP-seq
MIRT1110898	hsa-miR-378b	CLIP-seq
MIRT1110899	hsa-miR-378c	CLIP-seq
MIRT1110900	hsa-miR-378d	CLIP-seq
MIRT1110901	hsa-miR-378e	CLIP-seq
MIRT1110902	hsa-miR-378f	CLIP-seq
MIRT1110903	hsa-miR-378h	CLIP-seq
MIRT1110904	hsa-miR-378i	CLIP-seq
MIRT1110905	hsa-miR-422a	CLIP-seq
MIRT1110906	hsa-miR-4252	CLIP-seq
MIRT1110907	hsa-miR-4430	CLIP-seq
MIRT1110908	hsa-miR-4438	CLIP-seq
MIRT1110909	hsa-miR-4514	CLIP-seq
MIRT1110910	hsa-miR-4645-5p	CLIP-seq
MIRT1110911	hsa-miR-4673	CLIP-seq
MIRT1110912	hsa-miR-4680-5p	CLIP-seq
MIRT1110913	hsa-miR-4692	CLIP-seq
MIRT1110914	hsa-miR-4722-3p	CLIP-seq
MIRT1110915	hsa-miR-4722-5p	CLIP-seq
MIRT1110916	hsa-miR-4757-5p	CLIP-seq
MIRT1110917	hsa-miR-4758-3p	CLIP-seq
MIRT1110918	hsa-miR-498	CLIP-seq
MIRT1110919	hsa-miR-5095	CLIP-seq
MIRT1110920	hsa-miR-532-3p	CLIP-seq
MIRT1110921	hsa-miR-940	CLIP-seq
MIRT1110922	hsa-miR-1915	CLIP-seq
MIRT1110923	hsa-miR-2278	CLIP-seq
MIRT1110924	hsa-miR-3183	CLIP-seq
MIRT1110925	hsa-miR-3190	CLIP-seq
MIRT1110926	hsa-miR-3199	CLIP-seq
MIRT1110927	hsa-miR-33a	CLIP-seq
MIRT1110928	hsa-miR-33b	CLIP-seq
MIRT1110929	hsa-miR-4279	CLIP-seq
MIRT1110930	hsa-miR-4289	CLIP-seq
MIRT1110931	hsa-miR-4436b-3p	CLIP-seq
MIRT1110932	hsa-miR-4515	CLIP-seq
MIRT1110933	hsa-miR-4652-5p	CLIP-seq
MIRT1110934	hsa-miR-4690-3p	CLIP-seq
MIRT1110935	hsa-miR-4723-3p	CLIP-seq
MIRT1110936	hsa-miR-4740-3p	CLIP-seq
MIRT1110937	hsa-miR-4752	CLIP-seq
MIRT1110938	hsa-miR-615-5p	CLIP-seq
MIRT1110939	hsa-miR-646	CLIP-seq
MIRT1110940	hsa-miR-671-5p	CLIP-seq
MIRT1110941	hsa-miR-711	CLIP-seq
MIRT2030979	hsa-miR-1291	CLIP-seq
MIRT2030980	hsa-miR-146b-3p	CLIP-seq
MIRT2030981	hsa-miR-1908	CLIP-seq
MIRT2030982	hsa-miR-1914	CLIP-seq
MIRT1110923	hsa-miR-2278	CLIP-seq
MIRT1110924	hsa-miR-3183	CLIP-seq
MIRT1110925	hsa-miR-3190	CLIP-seq
MIRT2030983	hsa-miR-331-3p	CLIP-seq
MIRT1110927	hsa-miR-33a	CLIP-seq
MIRT1110928	hsa-miR-33b	CLIP-seq
MIRT2030984	hsa-miR-361-3p	CLIP-seq
MIRT1110929	hsa-miR-4279	CLIP-seq
MIRT1110930	hsa-miR-4289	CLIP-seq
MIRT2030985	hsa-miR-4313	CLIP-seq
MIRT1110934	hsa-miR-4690-3p	CLIP-seq
MIRT1110935	hsa-miR-4723-3p	CLIP-seq
MIRT1110936	hsa-miR-4740-3p	CLIP-seq
MIRT1110937	hsa-miR-4752	CLIP-seq
MIRT1110939	hsa-miR-646	CLIP-seq
MIRT2030986	hsa-miR-663	CLIP-seq
MIRT1110940	hsa-miR-671-5p	CLIP-seq
MIRT2030987	hsa-miR-744	CLIP-seq
MIRT2261662	hsa-miR-1207-5p	CLIP-seq
MIRT1110922	hsa-miR-1915	CLIP-seq
MIRT2261663	hsa-miR-199a-3p	CLIP-seq
MIRT2261664	hsa-miR-199b-3p	CLIP-seq
MIRT2261665	hsa-miR-3129-5p	CLIP-seq
MIRT2261666	hsa-miR-4260	CLIP-seq
MIRT1110931	hsa-miR-4436b-3p	CLIP-seq
MIRT2261667	hsa-miR-4529-5p	CLIP-seq
MIRT1110934	hsa-miR-4690-3p	CLIP-seq
MIRT2261668	hsa-miR-4753-5p	CLIP-seq
MIRT1110916	hsa-miR-4757-5p	CLIP-seq
MIRT2261669	hsa-miR-4763-3p	CLIP-seq
MIRT2261670	hsa-miR-486-3p	CLIP-seq
MIRT2261671	hsa-miR-671-3p	CLIP-seq
MIRT2261672	hsa-miR-936	CLIP-seq
MIRT1110892	hsa-miR-3170	CLIP-seq
MIRT1110919	hsa-miR-5095	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12725730, 15632202, 24513855, 30996345
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	15632202
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006887	Process	Exocytosis	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IBA	21873635
GO:0015820	Process	Leucine transport	IMP	30996345
GO:0030165	Function	PDZ domain binding	IPI	12725730
GO:0030864	Component	Cortical actin cytoskeleton	IBA	21873635
GO:0030866	Process	Cortical actin cytoskeleton organization	IBA	21873635
GO:0032878	Process	Regulation of establishment or maintenance of cell polarity	IBA	21873635
GO:0032878	Process	Regulation of establishment or maintenance of cell polarity	IDA	12725730
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0045159	Function	Myosin II binding	IBA	21873635
GO:0050708	Process	Regulation of protein secretion	IBA	21873635
GO:0051294	Process	Establishment of spindle orientation	IBA	21873635
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 618483
• HGNC: 6629
• e!Ensembl: ENSG00000073350

Protein

• UniProt ID: Q6P1M3
• Protein name: LLGL scribble cell polarity complex component 2 (HGL) (Lethal(2) giant larvae protein homolog 2)
• Protein function: Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epitheli
• PDB: 3WP0, 3WP1, 6N8P, 6N8Q, 6N8R, 6N8S, 8R3X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08366	LLGL	271 → 372	LLGL2	Family
  PF00400	WD40	414 → 451	WD domain, G-beta repeat	Repeat

• Sequence:

  MRRFLRPGHDPVRERLKRDLFQFNKTVEHGFPHQPSALGYSPSLRILAIGTRSGAIKLYG
  APGVEFMGLHQENNAVTQIHLLPGQCQLVTLLDDNSLHLWSLKVKGGASELQEDESFTLR
  GPPGAAPSATQITVVLPHSSCELLYLGTESGNVFVVQLPAFRALEDRTISSDAVLQRLPE
  EARHRRVFEMVEALQEHPRDPNQILIGYSRGLVVIWDLQGSRVLYHFLSSQQLENIWWQR
  DGRLLVSCHSDGSYCQWPVSSEAQQPEPLRSLVPYGPFPCKAITRILWLTTRQGLPFTIF
  QGGMPRASYGDRHCISVIHDGQQTAFDFTSRVIGFTVLTEADPAATFDDPYALVVLAEEE
  LVVIDLQTAGWPPVQLPYLASLHCSAITCSHHVSNIPLKLWERIIAAGSRQNAHFSTMEW
  PIDGGTSLTPAPPQRDLLLTGHEDGTVRFWDASGVCLRLLYKLSTVRVFLTDTDPNENFS
  AQGEDEWPPLRKVGSFDPYSDDPRLGIQKIFLCKYSGYLAVAGTAGQVLVLELNDEAAEQ
  AVEQVEADLLQDQEGYRWKGHERLAARSGPVRFEPGFQPFVLVQCQPPAVVTSLALHSEW
  RLVAFGTSHGFGLFDHQQRRQVFVKCTLHPSDQLALEGPLSRVKSLKKSLRQSFRRMRRS
  RVSSRKRHPAGPPGEAQEGSAKAERPGLQNMELAPVQRKIEARSAEDSFTGFVRTLYFAD
  TYLKDSSRHCPSLWAGTNGGTIYAFSLRVPPAERRMDEPVRAEQAKEIQLMHRAPVVGIL
  VLDGHSVPLPEPLEVAHDLSKSPDMQGSHQLLVVSEEQFKVFTLPKVSAKLKLKLTALEG
  SRVRRVSVAHFGSRRAEDYGEHHLAVLTNLGDIQVVSLPLLKPQVRYSCIRREDVSGIAS
  CVFTKYGQGFYLISPSEFERFSLSTKWLVEPRCLVDSAETKNHRPGNGAGPKKAPSRARN
  SGTQSDGEEKQPGLVMERALLSDERVLKEIQSTLEGDRGSGNWRSHRAAVGCSLSNGGAE
  

• Sequence length: 1020

Pathways

KEGG:

Hippo signaling pathway
Tight junction
Human papillomavirus infection

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	28114269
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	28114269
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	28114269

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	24318287
Bietti Crystalline Dystrophy	Associate	32302351
Breast Neoplasms	Associate	36192404
Carcinoma Ductal	Associate	30760857
Congenital disorder of glycosylation type 1B	Associate	24318287
Esophageal Neoplasms	Associate	36131361
Esophageal Squamous Cell Carcinoma	Associate	36131361
Hypertension	Associate	25813534
Leukemia Myeloid Acute	Associate	22371884
Lymphatic Diseases	Associate	24318287
Lymphatic Metastasis	Associate	24318287
Neoplasm Invasiveness	Associate	24318287
Neoplasms	Associate	24318287, 24940735
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	22371884
Osteopetrosis lethal	Associate	31096822