CCL20 (C-C motif chemokine ligand 20)

Gene

• Entrez ID: 6364
• Gene name: C-C motif chemokine ligand 20
• Gene symbol: CCL20
• Synonyms (NCBI Gene): CKb4, Exodus, LARC, MIP-3-alpha, MIP-3a, MIP3A, SCYA20, ST38
• Chromosome: 2
• Chromosome location: 2q36.3
• Summary: This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The pr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT006199	hsa-miR-21-5p	ELISA, Immunofluorescence, Luciferase reporter assay	22001440
MIRT017837	hsa-miR-335-5p	Microarray	18185580
MIRT006199	hsa-miR-21-5p	ELISA, Immunohistochemistry, In situ hybridization, qRT-PCR	23817679
MIRT006199	hsa-miR-21-5p	ELISA, Immunohistochemistry, In situ hybridization, qRT-PCR	23817679
MIRT737072	hsa-miR-183-5p	Western blotting, qRT-PCR	31608699
MIRT870950	hsa-miR-4720-3p	CLIP-seq
MIRT870951	hsa-miR-4804-3p	CLIP-seq
MIRT2498625	hsa-miR-1587	CLIP-seq
MIRT2498626	hsa-miR-2116	CLIP-seq
MIRT2498627	hsa-miR-3163	CLIP-seq
MIRT2498628	hsa-miR-4652-3p	CLIP-seq
MIRT2498629	hsa-miR-4674	CLIP-seq
MIRT2498630	hsa-miR-4677-5p	CLIP-seq
MIRT2498631	hsa-miR-4803	CLIP-seq
MIRT2498632	hsa-miR-635	CLIP-seq
MIRT2498627	hsa-miR-3163	CLIP-seq
MIRT2498631	hsa-miR-4803	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPD	Activation	23028973
NFKB1	Unknown	19939449;22240809
RELA	Activation	11749970
RELA	Unknown	22240809

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002548	Process	Monocyte chemotaxis	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17703191, 18239685, 28381538
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006935	Process	Chemotaxis	IDA	20068036
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	TAS	10521347
GO:0007165	Process	Signal transduction	TAS	9038201
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007267	Process	Cell-cell signaling	TAS	9038201
GO:0008009	Function	Chemokine activity	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030593	Process	Neutrophil chemotaxis	IBA	21873635
GO:0031731	Function	CCR6 chemokine receptor binding	IDA	12081481, 20068036
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IDA	25122636
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IBA	21873635
GO:0048020	Function	CCR chemokine receptor binding	IBA	21873635
GO:0048247	Process	Lymphocyte chemotaxis	IBA	21873635
GO:0060326	Process	Cell chemotaxis	IDA	23765988
GO:0070098	Process	Chemokine-mediated signaling pathway	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0071346	Process	Cellular response to interferon-gamma	IBA	21873635
GO:0071347	Process	Cellular response to interleukin-1	IBA	21873635
GO:0071356	Process	Cellular response to tumor necrosis factor	IBA	21873635
GO:0072678	Process	T cell migration	ISS
GO:0072679	Process	Thymocyte migration	ISS
GO:2000406	Process	Positive regulation of T cell migration	IDA	23620790

Other IDs

• MIM: 601960
• HGNC: 10619
• e!Ensembl: ENSG00000115009

Protein

• UniProt ID: P78556
• Protein name: C-C motif chemokine 20 (Beta-chemokine exodus-1) (CC chemokine LARC) (Liver and activation-regulated chemokine) (Macrophage inflammatory protein 3 alpha) (MIP-3-alpha) (Small-inducible cytokine A20) [Cleaved into: CCL20(1-67); CCL20(1-64); CCL20(2-70)]
• Protein function: Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:11035086, PubMed:11352563, PubMed:20068036). The li
• PDB: 1M8A, 2HCI, 2JYO, 5UR7, 6WWZ, 7T1E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00048	IL8	30 → 89	Small cytokines (intecrine/chemokine), interleukin-8 like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the seminal plasma, endometrial fluid and follicular fluid (at protein level). Expressed predominantly in the liver, lymph nodes, appendix, peripheral blood lymphocytes, and fetal lung. Low levels seen in thymus, prostate,
• Sequence:

  MCCTKSLLLAALMSVLLLHLCGESEAASNFDCCLGYTDRILHPKFIVGFTRQLANEGCDI
  NAIIFHTKKKLSVCANPKQTWVKYIVRLLSKKVKNM

• Sequence length: 96

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Rheumatoid arthritis

Reactome:

Chemokine receptors bind chemokines
G alpha (i) signalling events
Interleukin-10 signaling

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
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15059925
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	21340626
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908
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
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431	30603057

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Childhood asthma, Asthma		31036433	ClinVar, GWAS
Eczema	Eczema			GWAS
Biliary Cholangitis	Biliary Cholangitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Crohn Disease	Crohn Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	17146629
Abortion Habitual	Inhibit	26345847
Adenocarcinoma	Stimulate	35164838
Adenocarcinoma of Lung	Associate	32019546, 34580602, 35437508, 35733175, 35864953, 37335089, 37938151, 39838222
Adenoma	Associate	21249124, 30753331
Adenoma	Stimulate	23790181
Anemia	Associate	16413387
Aortic Aneurysm Abdominal	Associate	29229985
Aortic Aneurysm Familial Abdominal 1	Stimulate	25548922
Arthritis	Associate	29880013
Arthritis Juvenile	Associate	18512817
Arthritis Psoriatic	Associate	35784287
Arthritis Rheumatoid	Stimulate	11472439, 26103626
Arthritis Rheumatoid	Associate	12695561, 26062018, 29880013, 30619268, 39321281
Ascites	Associate	31039761
Asthma	Associate	18422729, 18774390, 24736642
Astrocytoma	Associate	35983033
Atherosclerosis	Associate	23118497
Autoimmune Diseases	Associate	29229985
Behcet Syndrome	Stimulate	17056573
Behcet Syndrome	Associate	36226612
Bipolar Disorder	Associate	35136035
Bipolar Disorder	Stimulate	35618730
Bone Marrow Failure Disorders	Associate	16413387
Bone Resorption	Associate	24557363
Breast Neoplasms	Associate	19451693, 21624121, 24937182, 30451357, 30579865, 31852159, 34519637, 35725915, 39214479
Breast Neoplasms	Stimulate	37571985
Buschke Lowenstein Tumor	Associate	21050487
Carcinogenesis	Associate	17075975, 24602001, 30753331, 35887223
Carcinogenesis	Inhibit	18438663
Carcinoma Hepatocellular	Stimulate	16764701, 35308139
Carcinoma Hepatocellular	Associate	17075975, 21935436, 23150092, 25579056, 26331965, 30633620, 31322256, 32730361, 34429454, 36231045, 37545521
Carcinoma Non Small Cell Lung	Associate	21949768, 35642002, 36657812, 37316552
Carcinoma Non Small Cell Lung	Stimulate	26968871
Carcinoma Pancreatic Ductal	Stimulate	21847358, 22190968
Carcinoma Renal Cell	Associate	32775427
Cartilage Diseases	Associate	18205922
Chemical and Drug Induced Liver Injury	Associate	31352173, 32418112, 34565470
Choroidal Effusions	Associate	33469074
Cold Injury	Stimulate	30385348
Colitis Ulcerative	Associate	12427784, 30347808
Colitis Ulcerative	Stimulate	26536229, 40542081
Colonic Neoplasms	Stimulate	23790181
Colorectal Neoplasms	Associate	16641550, 23790181, 24559209, 31387598, 31608699, 32058945, 34959120
Condylomata Acuminata	Stimulate	21050487
Conjunctivitis Allergic	Associate	25172034
Conjunctivitis Allergic	Stimulate	26989694
Coronary Disease	Associate	36688193
COVID 19	Stimulate	32866033, 34413339
COVID 19	Associate	33768543, 34188167, 34582497
COVID 19	Inhibit	36750001
Crohn Disease	Stimulate	12427784, 26536229
Crohn Disease	Associate	40542081
Death	Associate	24937182
Depressive Disorder	Stimulate	34584171
Depressive Disorder Major	Stimulate	34584171
Dermatitis Atopic	Inhibit	17141855
Dermatitis Atopic	Associate	39684538
Dermatomyositis	Associate	14730617
Diabetes Mellitus	Stimulate	28427244
Diabetes Mellitus Type 2	Associate	28427244, 36674502
Dry Eye Syndromes	Associate	34048779
Dry Eye Syndromes	Stimulate	39884388
Emphysema	Associate	25306249
Empyema	Stimulate	33469074
Encephalitis	Associate	32109548
Endometrial Neoplasms	Associate	29693365
Endophthalmitis	Stimulate	27293374
Enterocolitis	Stimulate	33891982
Enterocolitis Necrotizing	Associate	36806964
Epstein Barr Virus Infections	Stimulate	16409294, 18502823
Erdheim Chester Disease	Associate	17133532
Esophageal Neoplasms	Associate	31385574
Esophageal Squamous Cell Carcinoma	Associate	26284335, 26942702
Fatty Liver	Stimulate	31352173
Fever	Inhibit	21050487
Fibrocartilaginous embolism	Associate	23823618
Fibrosis	Stimulate	26273651, 29690903
Fibrosis	Associate	32418112, 37686029
Gastritis	Stimulate	17562763
Gastritis	Associate	19006683
Gastrointestinal Neoplasms	Associate	20459729
Glioblastoma	Associate	30048972
Glomerulonephritis IGA	Stimulate	28552941
Glomerulonephritis IGA	Associate	30029622
Graft vs Host Disease	Associate	23226545
Graves Disease	Associate	23717583
Graves Ophthalmopathy	Associate	33542676
Haemophilus Infections	Stimulate	35570583
Heart Failure	Associate	38573265
Helicobacter Infections	Stimulate	24824519
Helicobacter Infections	Associate	33331471, 35142152
Hepatitis Alcoholic	Associate	31352173
Hepatitis C	Stimulate	31652598
Hereditary leiomyomatosis and renal cell cancer	Associate	18684866, 24942949
HIV Infections	Inhibit	26883727
HIV Infections	Associate	27203285, 32346082
Hodgkin Disease	Associate	18502823, 18684866
Hypoxia	Stimulate	24131792
Hypoxia Brain	Stimulate	18512817
Ichthyosis	Associate	27554821
Idiopathic Pulmonary Fibrosis	Associate	30221703
Infections	Associate	20962773, 23150092, 25404022, 34846723
Infections	Stimulate	39867906
Inflammation	Associate	12067311, 16413387, 17562763, 17977827, 19376732, 20844183, 21249124, 21847358, 22552879, 24131792, 24778119, 25172034, 25579056, 26103626, 26968871, 27163710, 28542587, 28552941, 29128193, 29690903, 29880013, 29894487, 31277141, 31988296, 32109548, 32418112, 33259876, 33888832, 34580602, 34584171, 36012347, 36226612, 36674502, 36779490, 36806964, 36911731, 37218575, 37686029, 39201511
Inflammation	Stimulate	26536229, 35864953, 9129037
Inflammatory Bowel Diseases	Associate	12414801, 26536229, 32020185, 36911731, 37279927
Inflammatory Bowel Diseases	Stimulate	12427784, 30347808, 40542081
Intervertebral Disc Degeneration	Associate	35042389
Intervertebral disc disease	Associate	23823618
Irritable Bowel Syndrome	Associate	24763552, 25930081
Leukemia	Associate	16413387
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10666233
Leukemia Myelomonocytic Acute	Associate	12829025
Liver Cirrhosis	Associate	29690903, 31352173, 32418112
Liver Diseases	Stimulate	33469074
Liver Diseases	Associate	37686029
Liver Failure	Associate	32418112
Lung Diseases	Associate	40247373
Lung Neoplasms	Associate	24321786, 26968871, 35910766
Lupus Erythematosus Systemic	Stimulate	31007604
Lymphatic Metastasis	Stimulate	16203990, 31852159
Lymphoma B Cell	Associate	36869895
Lymphoma B Cell Marginal Zone	Associate	24602001, 35142152
Lymphoma Follicular	Stimulate	24602001
Macrophage Activation Syndrome	Associate	18512817
Melanoma	Associate	11749970, 20220766, 34799355, 37240247
Mouth Diseases	Associate	23226210, 35142152
Mouth Neoplasms	Associate	34384424
Moyamoya Disease	Associate	35197088
Mucus Inspissation of Respiratory Tract	Stimulate	29946002
Myasthenia Gravis	Associate	30048972
Myocardial Infarction	Associate	34565470
Nasopharyngeal Carcinoma	Associate	26634210, 32573058
Necrosis	Associate	30048972
Neoplasm Metastasis	Stimulate	16641550, 17075975, 23790181, 25593462, 26634210, 31385574, 37545521, 37571985
Neoplasm Metastasis	Associate	19324905, 21912453, 24743888, 26331965
Neoplasms	Associate	10562317, 16409294, 16641550, 17075975, 19340288, 20220766, 20969772, 21935436, 21949768, 24743888, 25593462, 25768730, 26273651, 26331965, 26577851, 26968871, 28674001, 29693365, 31852159, 32573058, 32775427, 34384424, 34519637, 34725321, 35180303, 36045408, 36869895, 37316552, 37571985, 39206096
Neoplasms	Stimulate	16764701
Neutrophil Immunodeficiency Syndrome	Associate	35197088
Non alcoholic Fatty Liver Disease	Stimulate	29690903, 31352173
Obstetric Labor Premature	Associate	24876667
Ovarian Neoplasms	Associate	31866467
Pain	Associate	35531763
Pancreatic Neoplasms	Stimulate	20459729
Pancreatitis Chronic	Associate	34702715
Papilloma	Associate	23019074
Peptic Ulcer	Associate	33331471
Periapical Diseases	Stimulate	31664358
Periodontal Diseases	Associate	12067311, 24557363
Pleural Effusion	Associate	22363712
Polymyositis	Associate	14730617
Polyps	Associate	37678868
Premature Birth	Associate	24876667
Prostatic Neoplasms	Associate	36045408, 36275733, 36479732
Prostatitis	Associate	21949768
Psoriasis	Associate	17141855, 22521418, 25202827, 33259876, 38115636
Psychotic Disorders	Associate	35618730
Purpura Thrombocytopenic Idiopathic	Associate	38053370
Recurrent respiratory papillomatosis	Associate	23019074
Recurrent respiratory papillomatosis	Inhibit	24950037
Respiratory Tract Diseases	Associate	23181789
Retinal Vein Occlusion	Associate	31814701
Sarcoma Kaposi	Stimulate	19324905
Schizophrenia	Associate	32109548
Schizophrenia	Stimulate	34584171
Scleroderma Systemic	Stimulate	16014681
Skin Diseases	Associate	17606602
Smoke Inhalation Injury	Associate	37316552
Spinocerebellar Ataxia 17	Associate	25492478
Squamous Cell Carcinoma of Head and Neck	Associate	36326893
Squamous Intraepithelial Lesions	Inhibit	18438663
Status Asthmaticus	Associate	18422729, 29946002
Stomach Diseases	Associate	17562763
Stomach Neoplasms	Associate	24824519, 31151932, 32913031, 33514440
Takayasu Arteritis	Stimulate	33538119
Thrombosis	Associate	36226612
Thyroid Cancer Papillary	Stimulate	16203990
Thyroid Cancer Papillary	Associate	30572540
Triple Negative Breast Neoplasms	Associate	40137853
Tuberculosis	Associate	18052967
Tuberculosis Pulmonary	Associate	33099324
Uterine Cervical Neoplasms	Associate	25768730, 26156805
Uterine Cervical Neoplasms	Inhibit	33888832
Uterine Cervicitis	Associate	26400278, 33888832
Vaginosis Bacterial	Associate	30407498
Vasculitis	Stimulate	30510966
Virus Diseases	Associate	31352173
Vitamin D Deficiency	Stimulate	40542081