SELE (selectin E)

Gene

• Entrez ID: 6401
• Gene name: Selectin E
• Gene symbol: SELE
• Synonyms (NCBI Gene): CD62E, ELAM, ELAM1, ESEL, LECAM2, selectin-e
• Chromosome: 1
• Chromosome location: 1q24.2
• Summary: The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits st

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004019	hsa-miR-31-5p	Immunocytochemistry, Northern blot, qRT-PCR, Western blot	19949084
MIRT005711	hsa-miR-17-5p	Luciferase reporter assay	19949084
MIRT005712	hsa-miR-17-3p	Luciferase reporter assay	19949084
MIRT005713	hsa-miR-155-5p	Luciferase reporter assay	19949084
MIRT005714	hsa-miR-221-3p	Luciferase reporter assay	19949084
MIRT005715	hsa-miR-222-3p	Luciferase reporter assay	19949084
MIRT005716	hsa-miR-1256	Luciferase reporter assay	19949084
MIRT722477	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT722476	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT722475	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT722474	hsa-miR-630	HITS-CLIP	19536157
MIRT722473	hsa-miR-3686	HITS-CLIP	19536157
MIRT722472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT722471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT739056	hsa-miR-204	HITS-CLIP	33718276
MIRT739057	hsa-miR-623	HITS-CLIP	33718276
MIRT722477	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT722476	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT722475	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT722474	hsa-miR-630	HITS-CLIP	19536157
MIRT722473	hsa-miR-3686	HITS-CLIP	19536157
MIRT722472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT722471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT1334249	hsa-miR-203	CLIP-seq
MIRT739055	hsa-miR-211	CLIP-seq
MIRT739059	hsa-miR-4446-5p	CLIP-seq
MIRT1334250	hsa-miR-4699-3p	CLIP-seq
MIRT739058	hsa-miR-4755-5p	CLIP-seq
MIRT2098902	hsa-miR-1236	CLIP-seq
MIRT2098903	hsa-miR-141	CLIP-seq
MIRT2098904	hsa-miR-200a	CLIP-seq
MIRT2098905	hsa-miR-377	CLIP-seq
MIRT2098906	hsa-miR-412	CLIP-seq
MIRT2098907	hsa-miR-759	CLIP-seq
MIRT2098908	hsa-miR-924	CLIP-seq
MIRT2323709	hsa-miR-1202	CLIP-seq
MIRT2323710	hsa-miR-1245	CLIP-seq
MIRT2323711	hsa-miR-151-5p	CLIP-seq
MIRT2323712	hsa-miR-151b	CLIP-seq
MIRT2323713	hsa-miR-3150b-3p	CLIP-seq
MIRT2323714	hsa-miR-3972	CLIP-seq
MIRT2323715	hsa-miR-4307	CLIP-seq
MIRT2323716	hsa-miR-4317	CLIP-seq
MIRT2323717	hsa-miR-4640-5p	CLIP-seq
MIRT2323718	hsa-miR-4716-5p	CLIP-seq
MIRT2323719	hsa-miR-4726-5p	CLIP-seq
MIRT2323720	hsa-miR-4784	CLIP-seq
MIRT2323721	hsa-miR-515-5p	CLIP-seq
MIRT2459064	hsa-miR-4729	CLIP-seq
MIRT2459065	hsa-miR-4803	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF3	Repression	10964678
HOXA9	Unknown	22269951
NFKB1	Activation	10946302;12408953;12885753;19422386
NFKB1	Unknown	8878392
REL	Activation	12408953
RELA	Activation	10946302;12885753;19422386
RELA	Unknown	11827962;23042817;8878392
SIRT1	Unknown	21810449
STAT6	Repression	9092569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002092	Process	Positive regulation of receptor internalization	IDA	9312078
GO:0002523	Process	Leukocyte migration involved in inflammatory response	TAS	18029551
GO:0004888	Function	Transmembrane signaling receptor activity	IMP	12960351
GO:0005515	Function	Protein binding	IPI	18606703, 32814053
GO:0005615	Component	Extracellular space	IDA	9290466
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	28011641
GO:0005901	Component	Caveola	IDA	12960351
GO:0005905	Component	Clathrin-coated pit	IDA	18029551
GO:0006954	Process	Inflammatory response	TAS	2466335
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IMP	18029551
GO:0007159	Process	Leukocyte cell-cell adhesion	IDA	7680663
GO:0007202	Process	Activation of phospholipase C activity	IMP	12960351
GO:0019722	Process	Calcium-mediated signaling	TAS	12960351
GO:0030029	Process	Actin filament-based process	IDA	8609175
GO:0030863	Component	Cortical cytoskeleton	IDA	8609175
GO:0032496	Process	Response to lipopolysaccharide	TAS	18029551
GO:0033691	Function	Sialic acid binding	IDA	7680663
GO:0034612	Process	Response to tumor necrosis factor	TAS	18029551
GO:0043274	Function	Phospholipase binding	IDA	12960351
GO:0045121	Component	Membrane raft	IDA	18029551
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12960351
GO:0050727	Process	Regulation of inflammatory response	TAS	18029551
GO:0050900	Process	Leukocyte migration	TAS
GO:0050901	Process	Leukocyte tethering or rolling	IMP	18029551
GO:0070492	Function	Oligosaccharide binding	IDA	7680663
GO:0070555	Process	Response to interleukin-1	IDA	8609175
GO:1903238	Process	Positive regulation of leukocyte tethering or rolling	ISS

Other IDs

• MIM: 131210
• HGNC: 10718
• e!Ensembl: ENSG00000007908

Protein

• UniProt ID: P16581
• Protein name: E-selectin (CD62 antigen-like family member E) (Endothelial leukocyte adhesion molecule 1) (ELAM-1) (Leukocyte-endothelial cell adhesion molecule 2) (LECAM2) (CD antigen CD62E)
• Protein function: Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis. {ECO:0000269|PubMed:168
• PDB: 1ESL, 1G1T, 4C16, 4CSY, 6EYI, 6EYJ, 6EYK, 8R5L, 8R5M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	29 → 140	Lectin C-type domain	Domain
  PF00008	EGF	143 → 173	EGF-like domain	Domain
  PF00084	Sushi	180 → 237	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	242 → 299	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	304 → 362	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	367 → 425	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	430 → 488	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	493 → 547	Sushi repeat (SCR repeat)	Domain

• Sequence:

  MIASQFLSALTLVLLIKESGAWSYNTSTEAMTYDEASAYCQQRYTHLVAIQNKEEIEYLN
  SILSYSPSYYWIGIRKVNNVWVWVGTQKPLTEEAKNWAPGEPNNRQKDEDCVEIYIKREK
  DVGMWNDERCSKKKLALCYTAACTNTSCSGHGECVETINNYTCKCDPGFSGLKCEQIVNC
  TALESPEHGSLVCSHPLGNFSYNSSCSISCDRGYLPSSMETMQCMSSGEWSAPIPACNVV
  ECDAVTNPANGFVECFQNPGSFPWNTTCTFDCEEGFELMGAQSLQCTSSGNWDNEKPTCK
  AVTCRAVRQPQNGSVRCSHSPAGEFTFKSSCNFTCEEGFMLQGPAQVECTTQGQWTQQIP
  VCEAFQCTALSNPERGYMNCLPSASGSFRYGSSCEFSCEQGFVLKGSKRLQCGPTGEWDN
  EKPTCEAVRCDAVHQPPKGLVRCAHSPIGEFTYKSSCAFSCEEGFELHGSTQLECTSQGQ
  WTEEVPSCQVVKCSSLAVPGKINMSCSGEPVFGTVCKFACPEGWTLNGSAARTCGATGHW
  SGLLPTCEAPTESNIPLVAGLSAAGLSLLTLAPFLLWLRKCLRKAKKFVPASSCQSLESD
  GSYQKPSYIL

• Sequence length: 610

Pathways

KEGG:

Cell adhesion molecules
TNF signaling pathway
AGE-RAGE signaling pathway in diabetic complications
African trypanosomiasis
Malaria
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

Cell surface interactions at the vascular wall

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	17890461
Dermatitis	Dermatitis, Atopic, Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	12410700, 17597826
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	14602771
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	20175758

Unknown
Disease term	Disease name	Evidence	References	Source
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		17890461	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis	Stimulate	22110680
Acrodermatitis	Associate	12839559
Acute Coronary Syndrome	Associate	18441195, 25147432, 29962384
Acute Kidney Injury	Associate	16501492
Adenoma	Associate	11231628, 12714632
Albuminuria	Stimulate	31023084
Allergic Fungal Sinusitis	Associate	24995349
Alopecia universalis	Associate	7511865
Amyotrophic Lateral Sclerosis	Associate	11054140, 18513389
Anemia Sickle Cell	Stimulate	24551209
Anemia Sickle Cell	Associate	9371854
Aneurysm	Associate	19111481
Aneurysm Ruptured	Associate	19111481
Angina Stable	Associate	26687477
Anthracosis	Associate	24066042
Antiphospholipid Syndrome	Associate	37014642
Aortic Aneurysm Abdominal	Associate	10917982
Aortic Valve Disease	Associate	11127470
Appendicitis	Associate	1281620, 1704191
Arthritis Juvenile	Associate	21739422
Arthritis Psoriatic	Associate	11310827, 7693825
Arthritis Rheumatoid	Stimulate	17852775
Asthma	Associate	10885418, 17563404, 7512004, 7545095
Atherosclerosis	Associate	11231628, 11466561, 15546947, 15591119, 15784173, 17885011, 19942746, 21496279, 21659524, 22648254, 26647279, 27454768, 28701173, 28821884, 30919407, 37014642
Autoimmune Diseases	Associate	27706780
Bacterial Infections	Associate	10477399
Behcet Syndrome	Stimulate	10333719
Behcet Syndrome	Associate	10627429
Blood Coagulation Disorders	Associate	15546947
Breast Neoplasms	Associate	12172576, 12841680, 18350162, 22970241, 22983139, 22992472
Breast Neoplasms	Stimulate	9094987
Bronchiectasis	Associate	11106214
Bronchiolitis	Associate	8915211
Calcinosis Cutis	Associate	12841680, 16309209, 19889975
Calcinosis Cutis	Inhibit	36371231
Carcinoma Ductal	Associate	29215790
Carcinoma Hepatocellular	Associate	18057713, 35637248
Carcinoma Merkel Cell	Associate	23353989
Carcinoma Non Small Cell Lung	Associate	10359045, 26472821, 28698503, 31793656, 37399498
Carcinoma Renal Cell	Stimulate	26943029
Carcinoma Renal Cell	Associate	35063404
Carcinoma Squamous Cell	Stimulate	16309209
Carcinoma Squamous Cell	Associate	18794336, 22718118, 33907270
Cardiovascular Abnormalities	Associate	15546947
Cardiovascular Diseases	Associate	12898464, 14675775, 15833936, 20191078, 22808171, 24418879, 24699314, 25147432, 30653588
Carotid Stenosis	Associate	20044088, 25441669
Cell Transformation Neoplastic	Associate	33800494
Cerebral Arterial Diseases	Associate	21659524
Cerebral Infarction	Associate	20622166, 37015819
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	26472821
Churg Strauss Syndrome	Associate	1605306
Colitis	Associate	39991918
Colitis Ulcerative	Associate	35253509, 9771404
Colonic Neoplasms	Associate	11448946, 16565092, 21283832, 21722370
Colorectal Neoplasms	Associate	15141079, 17372905, 21521691, 21722370, 22547830, 27926494, 29402939, 33167483, 33845603, 34497681
Connective Tissue Diseases	Associate	10209523
Coronary Artery Disease	Associate	11466561, 16756647, 19942746, 21629188, 24699314, 35768776
Coronary Disease	Associate	12390284, 17578587, 22388798, 39344313
Coronary Restenosis	Associate	15546947
COVID 19	Associate	32458111, 34450402, 34578436, 35174669
COVID 19	Inhibit	35033854
Crohn Disease	Associate	9771404
Death	Associate	35239653
Dental Plaque	Stimulate	20044088
Dental Plaque	Inhibit	26483407
Dermatitis Allergic Contact	Associate	7512530
Dermatitis Atopic	Associate	11981814
Dermatitis Atopic 1	Associate	1708785
Dermatitis Contact	Associate	33318199, 7684425
Dermatitis Herpetiformis	Stimulate	16575390
Dermatomyositis	Associate	8800304
Diabetes Mellitus	Stimulate	12945002
Diabetes Mellitus	Associate	15833936, 19942746, 28927403, 36765354
Diabetes Mellitus Type 1	Stimulate	34682638
Diabetes Mellitus Type 2	Stimulate	12388172, 34682638
Diabetes Mellitus Type 2	Associate	17578587, 20147318, 21659524
Diabetic Nephropathies	Associate	36949528
Dilatation Pathologic	Associate	10974034
Drug Hypersensitivity	Associate	1708785, 33318199, 7538286
Drug Hypersensitivity	Stimulate	7691450
Endometrial Neoplasms	Associate	17659325
Endometritis	Associate	20495539
Endotoxemia	Associate	15546947
Enterocolitis Necrotizing	Associate	31383782
Epileptic Syndromes	Stimulate	28438163
Essential Hypertension	Associate	20796317, 25748737, 25945941
Fatty Liver	Associate	39621304
Fibrosis	Associate	26503507
Gastritis	Associate	19414551
Gastrointestinal Diseases	Associate	10736107
Giant Cell Arteritis	Associate	10643715
Glaucoma	Associate	11231628, 19401404, 26396484
Glaucoma Open Angle	Associate	16862071, 8889553
Glomerulonephritis IGA	Associate	11828340, 16974056
Graft vs Host Disease	Stimulate	1370927
Graves Disease	Stimulate	7586686
Graves Disease	Associate	9075611
Graves Ophthalmopathy	Associate	9158103
Hashimoto Disease	Stimulate	7586686
Heart Failure	Associate	16185922
Hemangioma	Associate	8644859
Hemorrhage	Associate	20056442
Hepatitis Alcoholic	Associate	33954832
Hereditary pancreatitis	Associate	27926494
HIV Infections	Associate	12773706
Hodgkin Disease	Associate	1605306
Hypersensitivity	Associate	1704193
Hypertension	Associate	19942746, 20796317, 21881522, 25424718, 25748737, 35194526
Hypoxia	Stimulate	12829075
IgA Vasculitis	Associate	10460192, 9014604
Infections	Associate	10419878
Infections	Stimulate	21621633
Inflammation	Stimulate	10339484, 12427124, 15671023, 26899764, 9771404
Inflammation	Associate	10643715, 1281620, 1382576, 15016650, 15502879, 15644410, 16501492, 1708785, 1708800, 18710415, 19111481, 19284655, 22236003, 22269951, 22508864, 22808171, 23015400, 23295265, 23770053, 24066042, 24835252, 24987732, 24995349, 25045892, 25147432, 26400537, 26761204, 27381673, 27465143, 28432984, 31791242, 34265605, 35253509, 35768776, 39344313, 40018940, 7512004, 7512114, 7513430, 7523454, 7523851, 7684425, 9006914, 9092569, 9406809, 9485188, 9543276
Inflammatory Bowel Diseases	Associate	7541009, 9771404
Intracranial Arteriosclerosis	Associate	22648254
Kidney Diseases	Stimulate	35891358
Kidney Failure Chronic	Associate	16974056
Leprosy Lepromatous	Stimulate	8697637
Leukemia	Associate	27926494
Leukemia Lymphoma Adult T Cell	Associate	7689874
Leukemia Myeloid Acute	Associate	12186696, 35924822
Leukemia Promyelocytic Acute	Associate	10339484
Lichen Planus	Associate	36397025
Lichenoid Eruptions	Associate	36397025
Lipomatosis Multiple Symmetrical	Associate	28901441
Liver Diseases Alcoholic	Stimulate	33954832
Low Tension Glaucoma	Associate	26396484
Lung Diseases	Associate	28698503, 9543276
Lung Diseases Interstitial	Associate	10329599, 9543276
Lupus Erythematosus Systemic	Associate	20044088, 24699314, 35332100, 7694552
Lupus Erythematosus Systemic	Stimulate	24083390, 30638300
Lymphoma	Associate	27926494
Lymphoma B Cell	Associate	26448050, 35784355
Lymphoma T Cell Cutaneous	Associate	9767440
Macular Degeneration	Stimulate	12388172, 21219847
Macular Degeneration	Associate	17057786
Malaria Cerebral	Associate	16705810
Melanoma	Associate	1370233, 25138157
Mental Disorders	Stimulate	10469299
Mesothelioma Malignant	Associate	33800494
Microscopic Polyangiitis	Associate	36726727
Mucocutaneous Lymph Node Syndrome	Stimulate	25605650
Multiple Myeloma	Associate	38243063
Multiple Sclerosis	Associate	10705303
Myocardial Infarction	Associate	16820586, 20191078
Myositis	Associate	10440498
Nasal Polyps	Associate	24995349
Nasopharyngeal Carcinoma	Associate	39744943
Neoplasm Metastasis	Associate	10359045, 11006292, 16773720, 17372905, 22025563, 22992472, 24386459, 28698503, 29716546, 32872308, 32985079, 33167483
Neoplasms	Associate	10359045, 10777581, 11006292, 15141079, 15780091, 16309209, 16565092, 16773720, 17372905, 17695536, 18248671, 18350162, 18794336, 20833389, 21521691, 22025563, 22547830, 22992472, 23015400, 23353989, 23372803, 24386459, 25138157, 25761664, 27926494, 28698503, 29215790, 29402939, 29716546, 31793656, 33013881, 33167483, 37399498, 37486674, 8644859, 9094987
Neoplasms	Stimulate	35063404
Neoplasms Glandular and Epithelial	Associate	35253509
Neurologic Manifestations	Associate	34450402
Nose Diseases	Associate	18629784
Obesity	Associate	12898464
Osteosarcoma	Associate	32985079
Ovarian Neoplasms	Associate	25659662
Pain	Associate	10855628
Pancreatitis Chronic	Inhibit	33178497
Parkinson Disease	Associate	17189976
Pemphigoid Bullous	Associate	17515951
Peripheral Arterial Occlusive Disease 1	Associate	17598820, 20191078
Plaque Atherosclerotic	Associate	15833768
Pneumonia	Associate	10445615
Pre Eclampsia	Associate	32432770
Progeria	Associate	32032552
Prostatic Neoplasms	Associate	10855628, 18647941, 19889975, 21281819, 24386459
Protein Energy Malnutrition	Associate	38017491
Proteinuria	Associate	9551397
Proteus Syndrome	Stimulate	31490637
Pulmonary Arterial Hypertension	Stimulate	24083390
Pulmonary Disease Chronic Obstructive	Stimulate	30532530
Pulmonary edema of mountaineers	Associate	36230894
Renal Insufficiency Chronic	Associate	38017491
Respiration Disorders	Associate	9485188
Retinal Vasculitis	Associate	17177965
Rheumatoid Vasculitis	Associate	9059140
Sarcoidosis	Associate	7514516
Sarcoma Kaposi	Associate	7507301
Scleroderma Diffuse	Associate	12905480
Scleroderma Systemic	Associate	12905480
Scleroderma Systemic	Stimulate	24083390
Scrub Typhus	Stimulate	34368012
Sepsis	Associate	10477399
Severe Dengue	Associate	31778418
Simpson Golabi Behmel syndrome	Associate	31490637
Skin Diseases	Associate	9064342
Squamous Cell Carcinoma of Head and Neck	Associate	10777581, 16309209
Status Asthmaticus	Associate	17563404
Stiff Skin Syndrome	Associate	28441665
Stomach Neoplasms	Associate	16773720, 17695536, 23015400, 9683305
Stroke	Associate	20191078
Takayasu Arteritis	Stimulate	16802373
Taste Disorders	Stimulate	7538286
Thrombocythemia Essential	Associate	19508974, 22190201
Vascular Diseases	Associate	11231628, 15833936, 26761204, 27884380, 33546604
Vascular Diseases	Stimulate	33954832, 9152314
Vascular System Injuries	Associate	33608030
Vasculitis Lymphocytic Nodular	Associate	7525658