ETS2 (ETS proto-oncogene 2, transcription factor)

Gene

• Entrez ID: 2114
• Gene name: ETS proto-oncogene 2, transcription factor
• Gene symbol: ETS2
• Synonyms (NCBI Gene): ETS2IT1
• Chromosome: 21
• Chromosome location: 21q22.2
• Summary: This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosom

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004398	hsa-miR-199a-5p	Microarray, Northern blot	16331254
MIRT000775	hsa-miR-199a-3p	Microarray, Northern blot	16331254
MIRT024245	hsa-miR-218-5p	Sequencing	20371350
MIRT050649	hsa-miR-18a-5p	CLASH	23622248
MIRT045544	hsa-miR-149-5p	CLASH	23622248
MIRT037225	hsa-miR-877-5p	CLASH	23622248
MIRT053485	hsa-miR-196b-5p	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	22298639
MIRT298550	hsa-miR-944	PAR-CLIP	20371350
MIRT563639	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT298547	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT563638	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT298548	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT563637	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT563636	hsa-miR-3671	PAR-CLIP	20371350
MIRT563635	hsa-miR-607	PAR-CLIP	20371350
MIRT085405	hsa-miR-548aa	PAR-CLIP	21572407
MIRT085407	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT085401	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT085408	hsa-miR-548as-3p	PAR-CLIP	21572407
MIRT085409	hsa-miR-548at-3p	PAR-CLIP	21572407
MIRT085410	hsa-miR-548ay-3p	PAR-CLIP	21572407
MIRT085404	hsa-miR-3662	PAR-CLIP	21572407
MIRT085403	hsa-miR-3646	PAR-CLIP	21572407
MIRT085400	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT254150	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT254147	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT254148	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT254149	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT254145	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT254152	hsa-miR-548aw	PAR-CLIP	21572407
MIRT254144	hsa-miR-587	PAR-CLIP	21572407
MIRT298550	hsa-miR-944	PAR-CLIP	20371350
MIRT563639	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT298547	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT563638	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT298548	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT563637	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT563636	hsa-miR-3671	PAR-CLIP	20371350
MIRT563635	hsa-miR-607	PAR-CLIP	20371350
MIRT085405	hsa-miR-548aa	PAR-CLIP	21572407
MIRT085407	hsa-miR-548ap-3p	PAR-CLIP	21572407
MIRT085401	hsa-miR-548t-3p	PAR-CLIP	21572407
MIRT085408	hsa-miR-548as-3p	PAR-CLIP	21572407
MIRT085409	hsa-miR-548at-3p	PAR-CLIP	21572407
MIRT085410	hsa-miR-548ay-3p	PAR-CLIP	21572407
MIRT085404	hsa-miR-3662	PAR-CLIP	21572407
MIRT085403	hsa-miR-3646	PAR-CLIP	21572407
MIRT085400	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT254150	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT254147	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT254148	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT254149	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT254145	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT254152	hsa-miR-548aw	PAR-CLIP	21572407
MIRT254144	hsa-miR-587	PAR-CLIP	21572407
MIRT971887	hsa-miR-1224-3p	CLIP-seq
MIRT971888	hsa-miR-1245b-5p	CLIP-seq
MIRT971889	hsa-miR-1260	CLIP-seq
MIRT971890	hsa-miR-1260b	CLIP-seq
MIRT971891	hsa-miR-1264	CLIP-seq
MIRT971892	hsa-miR-1280	CLIP-seq
MIRT971893	hsa-miR-1283	CLIP-seq
MIRT971894	hsa-miR-136	CLIP-seq
MIRT971895	hsa-miR-188-3p	CLIP-seq
MIRT971896	hsa-miR-188-5p	CLIP-seq
MIRT971897	hsa-miR-203	CLIP-seq
MIRT971898	hsa-miR-300	CLIP-seq
MIRT971899	hsa-miR-3142	CLIP-seq
MIRT971900	hsa-miR-3156-3p	CLIP-seq
MIRT971901	hsa-miR-3187-3p	CLIP-seq
MIRT971902	hsa-miR-323b-5p	CLIP-seq
MIRT971903	hsa-miR-339-5p	CLIP-seq
MIRT971904	hsa-miR-3667-3p	CLIP-seq
MIRT971905	hsa-miR-369-3p	CLIP-seq
MIRT971906	hsa-miR-371-5p	CLIP-seq
MIRT971907	hsa-miR-371b-5p	CLIP-seq
MIRT971908	hsa-miR-374a	CLIP-seq
MIRT971909	hsa-miR-374b	CLIP-seq
MIRT971910	hsa-miR-381	CLIP-seq
MIRT971911	hsa-miR-4252	CLIP-seq
MIRT971912	hsa-miR-4320	CLIP-seq
MIRT971913	hsa-miR-4435	CLIP-seq
MIRT971914	hsa-miR-4475	CLIP-seq
MIRT971915	hsa-miR-450b-5p	CLIP-seq
MIRT971916	hsa-miR-4637	CLIP-seq
MIRT971917	hsa-miR-4640-3p	CLIP-seq
MIRT971918	hsa-miR-4650-5p	CLIP-seq
MIRT971919	hsa-miR-4652-3p	CLIP-seq
MIRT971920	hsa-miR-4666-3p	CLIP-seq
MIRT971921	hsa-miR-4667-3p	CLIP-seq
MIRT971922	hsa-miR-4701-5p	CLIP-seq
MIRT971923	hsa-miR-4717-5p	CLIP-seq
MIRT971924	hsa-miR-4753-3p	CLIP-seq
MIRT971925	hsa-miR-4753-5p	CLIP-seq
MIRT971926	hsa-miR-4766-5p	CLIP-seq
MIRT971927	hsa-miR-518a-5p	CLIP-seq
MIRT971928	hsa-miR-527	CLIP-seq
MIRT971929	hsa-miR-548s	CLIP-seq
MIRT971930	hsa-miR-588	CLIP-seq
MIRT971931	hsa-miR-942	CLIP-seq
MIRT1987949	hsa-miR-101	CLIP-seq
MIRT971889	hsa-miR-1260	CLIP-seq
MIRT971890	hsa-miR-1260b	CLIP-seq
MIRT1987950	hsa-miR-144	CLIP-seq
MIRT1987951	hsa-miR-3138	CLIP-seq
MIRT1987952	hsa-miR-4800-5p	CLIP-seq
MIRT1987953	hsa-miR-598	CLIP-seq
MIRT1987949	hsa-miR-101	CLIP-seq
MIRT1987950	hsa-miR-144	CLIP-seq
MIRT971897	hsa-miR-203	CLIP-seq
MIRT2222364	hsa-miR-205	CLIP-seq
MIRT971902	hsa-miR-323b-5p	CLIP-seq
MIRT2222365	hsa-miR-3922-5p	CLIP-seq
MIRT971916	hsa-miR-4637	CLIP-seq
MIRT971923	hsa-miR-4717-5p	CLIP-seq
MIRT971925	hsa-miR-4753-5p	CLIP-seq
MIRT971926	hsa-miR-4766-5p	CLIP-seq
MIRT2222366	hsa-miR-628-3p	CLIP-seq
MIRT2387548	hsa-miR-1293	CLIP-seq
MIRT2387549	hsa-miR-323-5p	CLIP-seq
MIRT2387550	hsa-miR-4483	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERF	Repression	7588608
ETV7	Unknown	22615925
JUN	Unknown	22354960

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12637547
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12637547
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	12637547
GO:0001501	Process	Skeletal system development	TAS	8596630
GO:0003677	Function	DNA binding	TAS	10918595
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11909962
GO:0005515	Function	Protein binding	IPI	11909962, 18242510, 18598946, 25117710, 26331536, 26496610, 32814053, 32911434
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0019904	Function	Protein domain specific binding	IPI	11583620
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11909962
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 164740
• HGNC: 3489
• e!Ensembl: ENSG00000157557

Protein

• UniProt ID: P15036
• Protein name: Protein C-ets-2
• Protein function: Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription.
• PDB: 4BQA, 4MHV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02198	SAM_PNT	87 → 170	Sterile alpha motif (SAM)/Pointed domain	Domain
  PF00178	Ets	364 → 443	Ets-domain	Domain

• Sequence:

  MNDFGIKNMDQVAPVANSYRGTLKRQPAFDTFDGSLFAVFPSLNEEQTLQEVPTGLDSIS
  HDSANCELPLLTPCSKAVMSQALKATFSGFKKEQRRLGIPKNPWLWSEQQVCQWLLWATN
  EFSLVNVNLQRFGMNGQMLCNLGKERFLELAPDFVGDILWEHLEQMIKENQEKTEDQYEE
  NSHLTSVPHWINSNTLGFGTEQAPYGMQTQNYPKGGLLDSMCPASTPSVLSSEQEFQMFP
  KSRLSSVSVTYCSVSQDFPGSNLNLLTNNSGTPKDHDSPENGADSFESSDSLLQSWNSQS
  SLLDVQRVPSFESFEDDCSQSLCLNKPTMSFKDYIQERSDPVEQGKPVIPAAVLAGFTGS
  GPIQLWQFLLELLSDKSCQSFISWTGDGWEFKLADPDEVARRWGKRKNKPKMNYEKLSRG
  LRYYYDKNIIHKTSGKRYVYRFVCDLQNLLGFTPEELHAILGVQPDTED

• Sequence length: 469

Pathways

KEGG:

Ras signaling pathway
Human T-cell leukemia virus 1 infection

Reactome:

Oncogene Induced Senescence

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	16298037
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	16298037
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	16033404
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	16298037

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn Disease	Crohn Disease			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Schizophrenia	Schizophrenia			GWAS
Psoriasis	Psoriasis			GWAS
Diabetes	Diabetes			GWAS
Otosclerosis	Otosclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Inhibit	23659968
Adenocarcinoma	Associate	29761525
Adenocarcinoma of Lung	Inhibit	23659968
Aortic Aneurysm Abdominal	Associate	25993293
Arthritis Rheumatoid	Associate	24089231, 34795667, 8660103
beta Thalassemia	Associate	33069695
Blast Crisis	Associate	33990592
Breast Neoplasms	Associate	12628005, 15314206, 18586674, 20554528, 21526717, 23343470, 39796183
Carcinogenesis	Associate	36760475
Carcinoma Hepatocellular	Associate	36614238
Carcinoma Non Small Cell Lung	Associate	23659968, 26893365
Carcinoma Squamous Cell	Associate	26590320
Cardiomyopathy Hypertrophic	Associate	33757590
Chordoma	Associate	19407855
Choriocarcinoma	Associate	22446105
Colonic Neoplasms	Associate	28742206
Colorectal Neoplasms	Associate	36609474
Down Syndrome	Associate	18094719, 21526717, 22048266, 22298639, 23343470, 2902635, 30031727
Embryo Loss	Associate	33859300
Epstein Barr Virus Infections	Stimulate	36965331
Esophageal Neoplasms	Associate	12532432
Esophageal Squamous Cell Carcinoma	Associate	12532432
Essential Tremor	Associate	36183486
Glioblastoma	Associate	26143636
Hemoglobin SC Disease	Associate	26590320
Hereditary Breast and Ovarian Cancer Syndrome	Associate	39796183
Huntington Disease	Associate	33156570
Inflammation	Associate	36797040
Inflammatory Bowel Diseases	Associate	36609474
Leukemia	Associate	21526717
Leukemia Erythroblastic Acute	Associate	18094719
Leukemia Lymphoma Adult T Cell	Associate	10212281
Leukemia Megakaryoblastic Acute	Associate	18094719
Leukemia Myeloid Acute	Associate	15007164, 19666867, 21339820, 28724426, 34655717, 35839275
Leukemia Myeloid Acute	Stimulate	39191856
Lung Neoplasms	Inhibit	23659968
Lung Neoplasms	Associate	25680408
Mouth Neoplasms	Associate	23343470
Nasopharyngeal Carcinoma	Associate	22260379
Neonatal herpes	Associate	7798271
Neoplasm Metastasis	Associate	33918387
Neoplasms	Associate	12532432, 12560478, 15314206, 21526717, 23343470, 23659968, 26590320, 26871468, 26893365, 28724426, 32015217, 36142793, 36609474, 36760475
Neoplasms	Inhibit	22298639, 28119415
Neoplasms	Stimulate	31358321
Obesity	Associate	33315090
Polycystic Ovary Syndrome	Associate	38486041
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22570408
Prostatic Neoplasms	Associate	12560478, 15314206, 22722839, 22922762, 31487842
Prostatic Neoplasms	Inhibit	29761525
Prostatitis	Associate	29761525
Pulmonary Disease Chronic Obstructive	Associate	21423603
Stomach Neoplasms	Associate	22298639, 27048589
Trophoblastic Neoplasms	Associate	33859300
Urinary Bladder Neoplasms	Associate	24069250
Vasculitis	Associate	36797040
Weight Loss	Associate	33315090