NR4A3 (nuclear receptor subfamily 4 group A member 3)

Gene

• Entrez ID: 8013
• Gene name: Nuclear receptor subfamily 4 group A member 3
• Gene symbol: NR4A3
• Synonyms (NCBI Gene): CHN, CSMF, MINOR, NOR1
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022644	hsa-miR-124-3p	Microarray	18668037
MIRT025586	hsa-miR-10b-5p	Reporter assay	21642433
MIRT029401	hsa-miR-26b-5p	Microarray	19088304
MIRT701365	hsa-miR-654-3p	HITS-CLIP	23313552
MIRT701364	hsa-miR-6828-5p	HITS-CLIP	23313552
MIRT701363	hsa-miR-671-5p	HITS-CLIP	23313552
MIRT701362	hsa-miR-2052	HITS-CLIP	23313552
MIRT701361	hsa-miR-19a-5p	HITS-CLIP	23313552
MIRT701360	hsa-miR-19b-1-5p	HITS-CLIP	23313552
MIRT701359	hsa-miR-19b-2-5p	HITS-CLIP	23313552
MIRT701358	hsa-miR-5701	HITS-CLIP	23313552
MIRT701357	hsa-miR-5590-5p	HITS-CLIP	23313552
MIRT701356	hsa-miR-4659a-5p	HITS-CLIP	23313552
MIRT701355	hsa-miR-4659b-5p	HITS-CLIP	23313552
MIRT701354	hsa-miR-6079	HITS-CLIP	23313552
MIRT701353	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT701352	hsa-miR-3154	HITS-CLIP	23313552
MIRT701350	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT701351	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT701349	hsa-miR-9500	HITS-CLIP	23313552
MIRT701348	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT701347	hsa-miR-6728-3p	HITS-CLIP	23313552
MIRT701346	hsa-miR-7515	HITS-CLIP	23313552
MIRT701345	hsa-miR-369-5p	HITS-CLIP	23313552
MIRT701344	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT701343	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT701342	hsa-miR-638	HITS-CLIP	23313552
MIRT701341	hsa-miR-4777-3p	HITS-CLIP	23313552
MIRT735916	hsa-miR-508-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	33942991
MIRT701365	hsa-miR-654-3p	HITS-CLIP	23313552
MIRT701364	hsa-miR-6828-5p	HITS-CLIP	23313552
MIRT701363	hsa-miR-671-5p	HITS-CLIP	23313552
MIRT701362	hsa-miR-2052	HITS-CLIP	23313552
MIRT701361	hsa-miR-19a-5p	HITS-CLIP	23313552
MIRT701360	hsa-miR-19b-1-5p	HITS-CLIP	23313552
MIRT701359	hsa-miR-19b-2-5p	HITS-CLIP	23313552
MIRT701358	hsa-miR-5701	HITS-CLIP	23313552
MIRT701357	hsa-miR-5590-5p	HITS-CLIP	23313552
MIRT701356	hsa-miR-4659a-5p	HITS-CLIP	23313552
MIRT701355	hsa-miR-4659b-5p	HITS-CLIP	23313552
MIRT701354	hsa-miR-6079	HITS-CLIP	23313552
MIRT701353	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT701352	hsa-miR-3154	HITS-CLIP	23313552
MIRT701350	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT701351	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT701349	hsa-miR-9500	HITS-CLIP	23313552
MIRT701348	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT701347	hsa-miR-6728-3p	HITS-CLIP	23313552
MIRT701346	hsa-miR-7515	HITS-CLIP	23313552
MIRT701345	hsa-miR-369-5p	HITS-CLIP	23313552
MIRT701344	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT701343	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT701342	hsa-miR-638	HITS-CLIP	23313552
MIRT701341	hsa-miR-4777-3p	HITS-CLIP	23313552
MIRT1192930	hsa-miR-1179	CLIP-seq
MIRT1192931	hsa-miR-1208	CLIP-seq
MIRT1192932	hsa-miR-1238	CLIP-seq
MIRT1192933	hsa-miR-1264	CLIP-seq
MIRT1192934	hsa-miR-140-3p	CLIP-seq
MIRT1192935	hsa-miR-224	CLIP-seq
MIRT1192936	hsa-miR-28-3p	CLIP-seq
MIRT1192937	hsa-miR-3074-5p	CLIP-seq
MIRT1192938	hsa-miR-3140-3p	CLIP-seq
MIRT1192939	hsa-miR-335	CLIP-seq
MIRT1192940	hsa-miR-3691-3p	CLIP-seq
MIRT1192941	hsa-miR-370	CLIP-seq
MIRT1192942	hsa-miR-3713	CLIP-seq
MIRT1192943	hsa-miR-374a	CLIP-seq
MIRT1192944	hsa-miR-374b	CLIP-seq
MIRT1192945	hsa-miR-4258	CLIP-seq
MIRT1192946	hsa-miR-4455	CLIP-seq
MIRT1192947	hsa-miR-4476	CLIP-seq
MIRT1192948	hsa-miR-4477b	CLIP-seq
MIRT1192949	hsa-miR-4502	CLIP-seq
MIRT1192950	hsa-miR-4533	CLIP-seq
MIRT1192951	hsa-miR-4731-5p	CLIP-seq
MIRT1192952	hsa-miR-548c-3p	CLIP-seq
MIRT1192953	hsa-miR-607	CLIP-seq
MIRT1192954	hsa-miR-609	CLIP-seq
MIRT1192930	hsa-miR-1179	CLIP-seq
MIRT1192931	hsa-miR-1208	CLIP-seq
MIRT1192935	hsa-miR-224	CLIP-seq
MIRT1192937	hsa-miR-3074-5p	CLIP-seq
MIRT1192955	hsa-miR-320a	CLIP-seq
MIRT1192956	hsa-miR-320b	CLIP-seq
MIRT1192957	hsa-miR-320c	CLIP-seq
MIRT1192958	hsa-miR-320d	CLIP-seq
MIRT1192959	hsa-miR-340	CLIP-seq
MIRT1192960	hsa-miR-3662	CLIP-seq
MIRT1192940	hsa-miR-3691-3p	CLIP-seq
MIRT1192941	hsa-miR-370	CLIP-seq
MIRT1192942	hsa-miR-3713	CLIP-seq
MIRT1192961	hsa-miR-380	CLIP-seq
MIRT1192962	hsa-miR-4429	CLIP-seq
MIRT1192947	hsa-miR-4476	CLIP-seq
MIRT1192948	hsa-miR-4477b	CLIP-seq
MIRT1192963	hsa-miR-4495	CLIP-seq
MIRT1192964	hsa-miR-4528	CLIP-seq
MIRT1192950	hsa-miR-4533	CLIP-seq
MIRT1192951	hsa-miR-4731-5p	CLIP-seq
MIRT1192965	hsa-miR-490-3p	CLIP-seq
MIRT1192966	hsa-miR-495	CLIP-seq
MIRT1192967	hsa-miR-548ae	CLIP-seq
MIRT1192968	hsa-miR-548aj	CLIP-seq
MIRT1192969	hsa-miR-548am	CLIP-seq
MIRT1192970	hsa-miR-548x	CLIP-seq
MIRT1192971	hsa-miR-642b	CLIP-seq
MIRT1192972	hsa-miR-649	CLIP-seq
MIRT2056022	hsa-miR-181a	CLIP-seq
MIRT2056023	hsa-miR-181b	CLIP-seq
MIRT2056024	hsa-miR-181c	CLIP-seq
MIRT2056025	hsa-miR-181d	CLIP-seq
MIRT2056026	hsa-miR-4262	CLIP-seq
MIRT1192965	hsa-miR-490-3p	CLIP-seq
MIRT1192972	hsa-miR-649	CLIP-seq
MIRT2284676	hsa-miR-144	CLIP-seq
MIRT2284677	hsa-miR-4263	CLIP-seq
MIRT2284678	hsa-miR-4735-5p	CLIP-seq
MIRT2284679	hsa-miR-501-3p	CLIP-seq
MIRT2284680	hsa-miR-502-3p	CLIP-seq
MIRT2284681	hsa-miR-576-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	10701778
TLX1	Activation	15384172

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	20558821
GO:0003677	Function	DNA binding	NAS	8634690
GO:0003707	Function	Steroid hormone receptor activity	TAS	8570200
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	12543801, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	NAS	8634690
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007369	Process	Gastrulation	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0009444	Process	Pyruvate oxidation	ISS
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	ISS
GO:0010828	Process	Positive regulation of glucose transmembrane transport	IDA	24022864
GO:0019901	Function	Protein kinase binding	IPI	25852083
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0032765	Process	Positive regulation of mast cell cytokine production	ISS
GO:0035259	Function	Glucocorticoid receptor binding	IBA	21873635
GO:0035497	Function	CAMP response element binding	ISS
GO:0035726	Process	Common myeloid progenitor cell proliferation	ISS
GO:0038097	Process	Positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043303	Process	Mast cell degranulation	ISS
GO:0043401	Process	Steroid hormone mediated signaling pathway	IEA
GO:0044320	Process	Cellular response to leptin stimulus	ISS
GO:0045333	Process	Cellular respiration	ISS
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20558821
GO:0046321	Process	Positive regulation of fatty acid oxidation	ISS
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	23554459
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IDA	25852083
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0061469	Process	Regulation of type B pancreatic cell proliferation	ISS
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	IBA	21873635
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	ISS
GO:0071870	Process	Cellular response to catecholamine stimulus	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:1900625	Process	Positive regulation of monocyte aggregation	IMP	20558821
GO:1903208	Process	Negative regulation of hydrogen peroxide-induced neuron death	ISS
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IGI	23554459
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IGI	23554459
GO:2000253	Process	Positive regulation of feeding behavior	ISS

Other IDs

• MIM: 600542
• HGNC: 7982
• e!Ensembl: ENSG00000119508

Protein

• UniProt ID: Q92570
• Protein name: Nuclear receptor subfamily 4 group A member 3 (Mitogen-induced nuclear orphan receptor) (Neuron-derived orphan receptor 1) (Nuclear hormone receptor NOR-1) (Translocated in extraskeletal chondrosarcoma)
• Protein function: Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site an
• PDB: 8XTT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	290 → 359	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	429 → 607	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform alpha is highly expressed in skeletal muscle. Isoform beta is highly expressed in skeletal muscle and low expressed in fetal brain and placenta.
• Sequence:

  MPCVQAQYSPSPPGSSYAAQTYSSEYTTEIMNPDYTKLTMDLGSTEITATATTSLPSIST
  FVEGYSSNYELKPSCVYQMQRPLIKVEEGRAPSYHHHHHHHHHHHHHHQQQHQQPSIPPA
  SSPEDEVLPSTSMYFKQSPPSTPTTPAFPPQAGALWDEALPSAPGCIAPGPLLDPPMKAV
  PTVAGARFPLFHFKPSPPHPPAPSPAGGHHLGYDPTAAAALSLPLGAAAAAGSQAAALES
  HPYGLPLAKRAAPLAFPPLGLTPSPTASSLLGESPSLPSPPSRSSSSGEGTCAVCGDNAA
  CQHYGVRTCEGCKGFFKRTVQKNAKYVCLANKNCPVDKRRRNRCQYCRFQKCLSVGMVKE
  VVRTDSLKGRRGRLPSKPKSPLQQEPSQPSPPSPPICMMNALVRALTDSTPRDLDYSRYC
  PTDQAAAGTDAEHVQQFYNLLTASIDVSRSWAEKIPGFTDLPKEDQTLLIESAFLELFVL
  RLSIRSNTAEDKFVFCNGLVLHRLQCLRGFGEWLDSIKDFSLNLQSLNLDIQALACLSAL
  SMITERHGLKEPKRVEELCNKITSSLKDHQSKGQALEPTESKVLGALVELRKICTLGLQR
  IFYLKLEDLVSPPSIIDKLFLDTLPF

• Sequence length: 626

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

Nuclear Receptor transcription pathway
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Chondrosarcoma	Chondrosarcoma	rs587776540, rs1586279285, rs886039356, rs1554578798, rs1817895168
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255	16005304
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	19192274

Unknown
Disease term	Disease name	Evidence	References	Source
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	37532692
Adenocarcinoma of Lung	Associate	37532692
Arthritis	Associate	34248958
Arthritis Rheumatoid	Associate	35508128
Atherosclerosis	Associate	34248958
Bipolar Disorder	Associate	20659174
Breast Neoplasms	Associate	24785096
Carcinogenesis	Associate	32236623
Carcinoma Acinar Cell	Associate	32910350, 34508546, 34873305, 36828363
Carcinoma Mucoepidermoid	Associate	34508546
Cell Transformation Neoplastic	Associate	31020999
Chemical and Drug Induced Liver Injury	Associate	34565470
Chondrosarcoma	Associate	31020999
Chondrosarcoma Extraskeletal Myxoid	Associate	18587326, 18855877, 22569967, 24508382, 24746215, 27832806, 29327709, 29937513, 31020999, 35144048, 36316541, 36948401, 38447752, 38508521, 9060841
Craniopharyngioma	Associate	24934367
Crisponi syndrome	Stimulate	27486743
Diabetes Mellitus	Associate	19682370
Diabetes Mellitus Type 2	Associate	30912283
Diabetes Mellitus Type 2	Stimulate	31936632
Diabetic Nephropathies	Associate	29207157
Fibrosis	Associate	36482877
Glucose Intolerance	Associate	19682370
HIV Infections	Inhibit	36499469
Hyperaldosteronism	Associate	21546879
Hypertension Renal	Associate	24085434
Hypoxia	Stimulate	29695901
Inflammation	Associate	22789442, 34096590, 35930205, 36482877, 36499469
Insulinoma	Associate	19682370
Leiomyoma	Inhibit	23550059
Leiomyosarcoma	Associate	30829727, 38508521
Leukemia	Associate	18523155, 23247046, 27697661
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	36040481
Leukemia Myeloid	Associate	36040481
Leukemia Myeloid Acute	Associate	18523155, 23247046, 27697661, 37961948
Leukemia Myeloid Acute	Inhibit	23247046
Leukemia Promyelocytic Acute	Associate	36040481
Malignant Teratocarcinosarcoma	Associate	34873305
Metabolic Syndrome	Associate	24060638
Muscle Neoplasms	Associate	25531450
Myocardial Infarction	Associate	34565470, 35886020
Myoepithelioma	Associate	23588365
Nasopharyngeal Carcinoma	Associate	26934447
Neoplasms	Associate	18855877, 24528603, 24785096, 25097177, 28423517, 31020999, 34096590, 34446510, 40359186
Neoplasms	Inhibit	26934447, 27528092, 27697661, 40586548
Obesity	Associate	30912283
Pancreatic Neoplasms	Associate	25409614
Pulmonary Disease Chronic Obstructive	Associate	29695901
Salivary Gland Neoplasms	Associate	33878706
Schizophrenia	Associate	20659174
Scleroderma Systemic	Associate	36482877
Sleep Deprivation	Stimulate	31936632
Soft Tissue Neoplasms	Associate	22569967
Stomach Neoplasms	Associate	27528092
Tobacco Use Disorder	Associate	20659174
Tongue Neoplasms	Associate	27288358
Urinary Bladder Neoplasms	Inhibit	40586548
Vascular Diseases	Associate	22049082
Vascular Remodeling	Associate	29695901