ELK3 (ETS transcription factor ELK3)

Gene

• Entrez ID: 2004
• Gene name: ETS transcription factor ELK3
• Gene symbol: ELK3
• Synonyms (NCBI Gene): ERP, NET, SAP-2, SAP2
• Chromosome: 12
• Chromosome location: 12q23.1
• Summary: This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003523	hsa-miR-124-3p	Luciferase reporter assay	20144220
MIRT003178	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT016563	hsa-miR-193b-3p	Microarray	20304954
MIRT020463	hsa-miR-106b-5p	Microarray	17242205
MIRT003523	hsa-miR-124-3p	Microarray	18668037
MIRT537722	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT537721	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT537720	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT537719	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT537718	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT537717	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT537716	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT537715	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT537713	hsa-miR-3163	PAR-CLIP	22012620
MIRT537714	hsa-miR-610	PAR-CLIP	22012620
MIRT537722	hsa-miR-505-3p	PAR-CLIP	22012620
MIRT537721	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT537720	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT537719	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT537718	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT537717	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT537716	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT537715	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT537713	hsa-miR-3163	PAR-CLIP	22012620
MIRT537714	hsa-miR-610	PAR-CLIP	22012620
MIRT960271	hsa-miR-106a	CLIP-seq
MIRT960272	hsa-miR-106b	CLIP-seq
MIRT960273	hsa-miR-1208	CLIP-seq
MIRT960274	hsa-miR-1229	CLIP-seq
MIRT960275	hsa-miR-124	CLIP-seq
MIRT960276	hsa-miR-1252	CLIP-seq
MIRT960277	hsa-miR-1276	CLIP-seq
MIRT960278	hsa-miR-130a	CLIP-seq
MIRT960279	hsa-miR-130b	CLIP-seq
MIRT960280	hsa-miR-155	CLIP-seq
MIRT960281	hsa-miR-17	CLIP-seq
MIRT960282	hsa-miR-19a	CLIP-seq
MIRT960283	hsa-miR-19b	CLIP-seq
MIRT960284	hsa-miR-20a	CLIP-seq
MIRT960285	hsa-miR-20b	CLIP-seq
MIRT960286	hsa-miR-23a	CLIP-seq
MIRT960287	hsa-miR-23b	CLIP-seq
MIRT960288	hsa-miR-23c	CLIP-seq
MIRT960289	hsa-miR-301a	CLIP-seq
MIRT960290	hsa-miR-301b	CLIP-seq
MIRT960291	hsa-miR-3144-5p	CLIP-seq
MIRT960292	hsa-miR-3191	CLIP-seq
MIRT960293	hsa-miR-323-3p	CLIP-seq
MIRT960294	hsa-miR-365	CLIP-seq
MIRT960295	hsa-miR-3666	CLIP-seq
MIRT960296	hsa-miR-3940-3p	CLIP-seq
MIRT960297	hsa-miR-410	CLIP-seq
MIRT960298	hsa-miR-421	CLIP-seq
MIRT960299	hsa-miR-4255	CLIP-seq
MIRT960300	hsa-miR-4282	CLIP-seq
MIRT960301	hsa-miR-4295	CLIP-seq
MIRT960302	hsa-miR-4305	CLIP-seq
MIRT960303	hsa-miR-4311	CLIP-seq
MIRT960304	hsa-miR-4420	CLIP-seq
MIRT960305	hsa-miR-4435	CLIP-seq
MIRT960306	hsa-miR-4474-3p	CLIP-seq
MIRT960307	hsa-miR-4476	CLIP-seq
MIRT960308	hsa-miR-454	CLIP-seq
MIRT960309	hsa-miR-4652-5p	CLIP-seq
MIRT960310	hsa-miR-4709-5p	CLIP-seq
MIRT960311	hsa-miR-4716-5p	CLIP-seq
MIRT960312	hsa-miR-4729	CLIP-seq
MIRT960313	hsa-miR-4744	CLIP-seq
MIRT960314	hsa-miR-4796-5p	CLIP-seq
MIRT960315	hsa-miR-491-5p	CLIP-seq
MIRT960316	hsa-miR-505	CLIP-seq
MIRT960317	hsa-miR-506	CLIP-seq
MIRT960318	hsa-miR-510	CLIP-seq
MIRT960319	hsa-miR-512-5p	CLIP-seq
MIRT960320	hsa-miR-519a	CLIP-seq
MIRT960321	hsa-miR-519b-3p	CLIP-seq
MIRT960322	hsa-miR-519c-3p	CLIP-seq
MIRT960323	hsa-miR-519d	CLIP-seq
MIRT960324	hsa-miR-548ac	CLIP-seq
MIRT960325	hsa-miR-548ae	CLIP-seq
MIRT960326	hsa-miR-548aj	CLIP-seq
MIRT960327	hsa-miR-548am	CLIP-seq
MIRT960328	hsa-miR-548d-3p	CLIP-seq
MIRT960329	hsa-miR-548t	CLIP-seq
MIRT960330	hsa-miR-548x	CLIP-seq
MIRT960331	hsa-miR-548z	CLIP-seq
MIRT960332	hsa-miR-569	CLIP-seq
MIRT960333	hsa-miR-579	CLIP-seq
MIRT960334	hsa-miR-582-3p	CLIP-seq
MIRT960335	hsa-miR-583	CLIP-seq
MIRT960336	hsa-miR-663b	CLIP-seq
MIRT960337	hsa-miR-664	CLIP-seq
MIRT960338	hsa-miR-93	CLIP-seq
MIRT960339	hsa-miR-935	CLIP-seq
MIRT960273	hsa-miR-1208	CLIP-seq
MIRT960274	hsa-miR-1229	CLIP-seq
MIRT1984502	hsa-miR-1237	CLIP-seq
MIRT1984503	hsa-miR-1248	CLIP-seq
MIRT1984504	hsa-miR-135a	CLIP-seq
MIRT1984505	hsa-miR-135b	CLIP-seq
MIRT960280	hsa-miR-155	CLIP-seq
MIRT960291	hsa-miR-3144-5p	CLIP-seq
MIRT960292	hsa-miR-3191	CLIP-seq
MIRT960294	hsa-miR-365	CLIP-seq
MIRT960296	hsa-miR-3940-3p	CLIP-seq
MIRT1984506	hsa-miR-412	CLIP-seq
MIRT960298	hsa-miR-421	CLIP-seq
MIRT960299	hsa-miR-4255	CLIP-seq
MIRT960300	hsa-miR-4282	CLIP-seq
MIRT960304	hsa-miR-4420	CLIP-seq
MIRT960309	hsa-miR-4652-5p	CLIP-seq
MIRT960310	hsa-miR-4709-5p	CLIP-seq
MIRT1984507	hsa-miR-4799-5p	CLIP-seq
MIRT960315	hsa-miR-491-5p	CLIP-seq
MIRT960316	hsa-miR-505	CLIP-seq
MIRT960332	hsa-miR-569	CLIP-seq
MIRT960339	hsa-miR-935	CLIP-seq
MIRT2219561	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12788937
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	12933792
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12788937
GO:0001525	Process	Angiogenesis	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	7851904
GO:0005515	Function	Protein binding	IPI	17474147, 25416956, 26871637, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IC	12933792
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	7958835
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0032422	Function	Purine-rich negative regulatory element binding	IDA	12933792
GO:0042060	Process	Wound healing	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	12933792
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12788937
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600247
• HGNC: 3325
• e!Ensembl: ENSG00000111145

Protein

• UniProt ID: P41970
• Protein name: ETS domain-containing protein Elk-3 (ETS-related protein ERP) (ETS-related protein NET) (Serum response factor accessory protein 2) (SAP-2) (SRF accessory protein 2)
• Protein function: May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00178	Ets	6 → 85	Ets-domain	Domain

• Sequence:

  MESAITLWQFLLQLLLDQKHEHLICWTSNDGEFKLLKAEEVAKLWGLRKNKTNMNYDKLS
  RALRYYYDKNIIKKVIGQKFVYKFVSFPEILKMDPHAVEISRESLLLQDSDCKASPEGRE
  AHKHGLAALRSTSRNEYIHSGLYSSFTINSLQNPPDAFKAIKTEKLEEPPEDSPPVEEVR
  TVIRFVTNKTDKHVTRPVVSLPSTSEAAAASAFLASSVSAKISSLMLPNAASISSASPFS
  SRSPSLSPNSPLPSEHRSLFLEAACHDSDSLEPLNLSSGSKTKSPSLPPKAKKPKGLEIS
  APPLVLSGTDIGSIALNSPALPSGSLTPAFFTAQTPNGLLLTPSPLLSSIHFWSSLSPVA
  PLSPARLQGPSTLFQFPTLLNGHMPVPIPSLDRAASPVLLSSNSQKS

• Sequence length: 407

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	16583263
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	16583263
Lymphoblastic leukemia	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	29632299, 27694927
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	16583263

Unknown
Disease term	Disease name	Evidence	References	Source
Heart failure	Heart Failure, Diastolic		29556499	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Aneurysm Abdominal	Associate	37822152
Breast Neoplasms	Inhibit	17172821
Breast Neoplasms	Associate	26637400, 31511359, 36950218
Carcinoma Squamous Cell	Associate	26590320
Colorectal Neoplasms	Associate	32571262
Combined Saposin Deficiency	Associate	2060627
Gaucher Disease	Associate	2060627
Glioma	Associate	35905257
Hemoglobin SC Disease	Associate	26590320
Hypoxia	Stimulate	37394639
Inflammation	Associate	35905257
Kidney Cortex Necrosis	Associate	38287102
Leukemia	Associate	33218352
Liposarcoma	Associate	33980253
Melanoma	Associate	32894549
Neoplasm Metastasis	Associate	26637400, 38188675, 39930469
Neoplasms	Associate	26590320, 35409069, 36950218, 38188675, 39930469
Oropharyngeal Neoplasms	Inhibit	26932277
Ovarian Neoplasms	Associate	36243865, 37394639
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27694927
Prostatic Neoplasms Castration Resistant	Associate	36779846
Squamous Cell Carcinoma of Head and Neck	Inhibit	26932277
Stomach Neoplasms	Associate	35409069
Triple Negative Breast Neoplasms	Associate	35858708, 36950218, 38188675, 39930469