CXCL9 (C-X-C motif chemokine ligand 9)

Gene

• Entrez ID: 4283
• Gene name: C-X-C motif chemokine ligand 9
• Gene symbol: CXCL9
• Synonyms (NCBI Gene): CMK, Humig, MIG, SCYB9, crg-10
• Chromosome: 4
• Chromosome location: 4q21.1
• Summary: This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C moti

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016944	hsa-miR-335-5p	Microarray	18185580
MIRT025283	hsa-miR-34a-5p	Proteomics	21566225
MIRT028888	hsa-miR-26b-5p	Microarray	19088304
MIRT736789	hsa-miR-588	Western blotting, Immunohistochemistry (IHC), qRT-PCR	33323542
MIRT918121	hsa-miR-1251	CLIP-seq
MIRT918122	hsa-miR-1252	CLIP-seq
MIRT918123	hsa-miR-1270	CLIP-seq
MIRT918124	hsa-miR-1278	CLIP-seq
MIRT918125	hsa-miR-1293	CLIP-seq
MIRT918126	hsa-miR-1321	CLIP-seq
MIRT918127	hsa-miR-185	CLIP-seq
MIRT918128	hsa-miR-3162-5p	CLIP-seq
MIRT918129	hsa-miR-3529	CLIP-seq
MIRT918130	hsa-miR-379	CLIP-seq
MIRT918131	hsa-miR-412	CLIP-seq
MIRT918132	hsa-miR-4272	CLIP-seq
MIRT918133	hsa-miR-4306	CLIP-seq
MIRT918134	hsa-miR-4451	CLIP-seq
MIRT918135	hsa-miR-4456	CLIP-seq
MIRT918136	hsa-miR-4483	CLIP-seq
MIRT918137	hsa-miR-4531	CLIP-seq
MIRT918138	hsa-miR-4536	CLIP-seq
MIRT918139	hsa-miR-4644	CLIP-seq
MIRT918140	hsa-miR-4650-3p	CLIP-seq
MIRT918141	hsa-miR-4666-5p	CLIP-seq
MIRT918142	hsa-miR-4670-3p	CLIP-seq
MIRT918143	hsa-miR-4739	CLIP-seq
MIRT918144	hsa-miR-4756-5p	CLIP-seq
MIRT918145	hsa-miR-541	CLIP-seq
MIRT918146	hsa-miR-582-3p	CLIP-seq
MIRT918147	hsa-miR-620	CLIP-seq
MIRT918148	hsa-miR-654-5p	CLIP-seq
MIRT1972134	hsa-miR-4434	CLIP-seq
MIRT1972135	hsa-miR-4516	CLIP-seq
MIRT918137	hsa-miR-4531	CLIP-seq
MIRT2207943	hsa-miR-135a	CLIP-seq
MIRT2207944	hsa-miR-135b	CLIP-seq
MIRT2207945	hsa-miR-4433	CLIP-seq
MIRT2207946	hsa-miR-4481	CLIP-seq
MIRT2207947	hsa-miR-4701-5p	CLIP-seq
MIRT2207948	hsa-miR-4717-3p	CLIP-seq
MIRT2207949	hsa-miR-4724-5p	CLIP-seq
MIRT2207950	hsa-miR-4745-5p	CLIP-seq
MIRT2207951	hsa-miR-4758-5p	CLIP-seq
MIRT2207952	hsa-miR-494	CLIP-seq
MIRT2386611	hsa-miR-4793-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005125	Function	Cytokine activity	TAS	2115167
GO:0005515	Function	Protein binding	IPI	18275857, 21314817, 25416956, 28381538, 31515488, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006935	Process	Chemotaxis	IDA	12782716
GO:0006952	Process	Defense response	TAS	2115167
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006968	Process	Cellular defense response	TAS	10570316
GO:0007165	Process	Signal transduction	TAS	10201891, 10201901
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	12782716
GO:0007267	Process	Cell-cell signaling	TAS	8476424
GO:0008009	Function	Chemokine activity	IBA	21873635
GO:0008009	Function	Chemokine activity	IDA	12782716
GO:0009897	Component	External side of plasma membrane	IEA
GO:0030593	Process	Neutrophil chemotaxis	IBA	21873635
GO:0042127	Process	Regulation of cell population proliferation	IDA	12782716
GO:0045236	Function	CXCR chemokine receptor binding	IBA	21873635
GO:0045663	Process	Positive regulation of myoblast differentiation	IEA
GO:0048248	Function	CXCR3 chemokine receptor binding	IDA	12782716
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	IDA	12782716
GO:0051607	Process	Defense response to virus	IEA
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IBA	21873635
GO:0070098	Process	Chemokine-mediated signaling pathway	IBA	21873635
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA	21873635
GO:1901741	Process	Positive regulation of myoblast fusion	IEA

Other IDs

• MIM: 601704
• HGNC: 7098
• e!Ensembl: ENSG00000138755

Protein

• UniProt ID: Q07325
• Protein name: C-X-C motif chemokine 9 (Gamma-interferon-induced monokine) (Monokine induced by interferon-gamma) (HuMIG) (MIG) (Small-inducible cytokine B9)
• Protein function: Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00048	IL8	29 → 89	Small cytokines (intecrine/chemokine), interleukin-8 like	Domain

• Sequence:

  MKKSGVLFLLGIILLVLIGVQGTPVVRKGRCSCISTNQGTIHLQSLKDLKQFAPSPSCEK
  IEIIATLKNGVQTCLNPDSADVKELIKKWEKQVSQKKKQKNGKKHQKKKVLKVRKSQRSR
  QKKTT

• Sequence length: 125

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
Toll-like receptor signaling pathway

Reactome:

Chemokine receptors bind chemokines
G alpha (i) signalling events

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	18925433
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	18925433
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	18925433

Unknown
Disease term	Disease name	Evidence	References	Source
Celiac disease	Celiac Disease		30097691	ClinVar
Endometriosis	Endometriosis		30579999	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acrodermatitis	Stimulate	17606602
Acute Kidney Injury	Stimulate	32165324
Adenocarcinoma	Stimulate	22247499
Adenocarcinoma	Associate	31960110, 32509861
Adenocarcinoma Mucinous	Associate	32840168
Adenocarcinoma of Lung	Associate	36991099
Allergic Fungal Sinusitis	Associate	26047816
Alopecia Areata	Stimulate	23502337
Aneurysm	Associate	23887838
Appendicitis	Associate	30918467
Arthritis	Associate	16847431
Arthritis Psoriatic	Stimulate	11310827, 16847431
Arthritis Rheumatoid	Associate	11178128, 15996201, 20604932, 21255008, 22401175, 26367725, 28148302, 33387686, 37573587
Arthritis Rheumatoid	Stimulate	12932287, 16847431
Asthma	Associate	31391224, 38253462
Atherosclerosis	Associate	17991878
Autism Spectrum Disorder	Associate	34128902
Behcet Syndrome	Stimulate	17056573
Berylliosis	Associate	34399367
beta Thalassemia	Associate	24894780
Blister	Associate	29932457
Breast Neoplasms	Associate	20068563, 22333315, 23981902, 29495008, 30451357, 30579865, 35052427, 35120331, 35725915, 35819135, 36766731, 40482645
Bronchiolitis Obliterans Syndrome	Stimulate	22006860
Bronchiolitis Obliterans Syndrome	Associate	27217465, 33640906, 34755129, 37742913
Carcinoma Basal Cell	Associate	20228225
Carcinoma Hepatocellular	Stimulate	15633209, 36938723
Carcinoma Hepatocellular	Associate	34085699, 37995395, 39675785
Carcinoma Renal Cell	Associate	15578685, 16863511, 26910919
Carcinoma Renal Cell	Stimulate	37006314
Cardiomyopathy Dilated	Associate	35618744
Cardiomyopathy Restrictive	Stimulate	30289917
Cardiovascular Diseases	Associate	35977003
Cardiovascular Diseases	Stimulate	36693381
Chagas Cardiomyopathy	Associate	23150742
Chorioamnionitis	Associate	28829757
Chorioamnionitis	Inhibit	39237269
Chronic Disease	Stimulate	23012327
Chronic Kidney Diseases of Uncertain Etiology	Stimulate	19265171
Chronic Urticaria	Associate	22132892
Colitis Collagenous	Stimulate	25948880
Colitis Collagenous	Associate	33930606
Colitis Lymphocytic	Stimulate	25948880
Colitis Ulcerative	Stimulate	34298022
Colitis Ulcerative	Associate	36576886, 37055495
Colonic Diseases	Stimulate	24438206
Colonic Neoplasms	Associate	34233297, 36246978
Colorectal Neoplasms	Associate	30973890, 34162701, 34233297, 34539647, 35213358
Communication Disorders	Stimulate	17052299
Constriction Pathologic	Associate	35345521
Coronary Artery Disease	Stimulate	21889313
Coronary Artery Disease	Associate	30333306
Coronary Disease	Associate	35345521
Coronary Stenosis	Associate	35345521
COVID 19	Associate	32592406, 32920092, 34188167, 34335580, 34987646, 36052094, 36685671, 37201409
COVID 19	Stimulate	33950285
Critical Illness	Associate	33780352
Crohn Disease	Associate	34106269, 36792688
Crohn Disease	Inhibit	36384659
Cystic Fibrosis	Associate	25115612
Cystic Fibrosis	Stimulate	34721395
Cystitis	Associate	30905425
Death	Associate	16195357, 26910919
Dermatitis Atopic	Associate	28821884, 30685456, 31855303, 39332980
Dermatitis Atopic	Stimulate	33975024
Dermatitis Contact	Associate	37187734
Dermatomyositis	Associate	33305541
Diabetes Gestational	Associate	31783860
Diabetes Mellitus	Stimulate	22385239, 28427244
Diabetes Mellitus	Associate	29513874
Diabetes Mellitus Type 2	Associate	28427244
Diabetes Mellitus Type 2	Inhibit	33742062
Disease	Associate	31652730
Drug Hypersensitivity	Associate	10504443
Drug Related Side Effects and Adverse Reactions	Stimulate	25940887
Dry Eye Syndromes	Associate	19850844
Dry Eye Syndromes	Stimulate	39884388
Embolism Air	Associate	24945146
Emergence Delirium	Associate	38236313
Encephalitis	Associate	23639073
Endometrial Neoplasms	Stimulate	35012533
Endometrial Neoplasms	Associate	39960836
Endometriosis	Stimulate	34360900
Epstein Barr Virus Infections	Associate	10393857
Erysipelas	Associate	28512644
Fetal Growth Retardation	Stimulate	37033160
Fever	Associate	12930373
Fever	Stimulate	16195357, 36532054
Fibrosis	Associate	35159124, 36091020, 37471168
Fibrous Dysplasia Polyostotic	Associate	19220835, 31870725
Gastritis	Associate	11091274
Gastrointestinal Diseases	Associate	35538132
Germinoma	Associate	20178649
Giant Cell Arteritis	Associate	30333306
Giant Cell Arteritis	Stimulate	34237649
Glaucoma	Stimulate	22355254
Glaucoma Open Angle	Stimulate	22355254
Glioblastoma	Associate	36430394
Glossitis Benign Migratory	Associate	17606602, 21641395
Glossitis Benign Migratory	Stimulate	22246581
Graft vs Host Disease	Associate	28057639, 34657151
Graves Disease	Associate	12107104, 27245471
Hashimoto Disease	Associate	36266640
Head and Neck Neoplasms	Associate	35905218
Heart Valve Diseases	Associate	23417848
Hepatitis B	Associate	37995395
Hepatitis C	Stimulate	28387899
Hepatitis Chronic	Stimulate	28387899
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22759382
Hereditary leiomyomatosis and renal cell cancer	Associate	10194423
Hermansky Pudlak syndrome 2	Inhibit	27207797
Hip Fractures	Associate	38236313
HIV Infections	Associate	35538132
Hodgkin Disease	Associate	10194423, 19773754, 24141626
HTLV I Infections	Associate	25521499
Infections	Stimulate	17553894, 24086645, 37201409
Infections	Associate	21641395, 24367701, 32592406
Infectious Mononucleosis	Associate	10393857
Inflammation	Associate	10194423, 11091274, 12107104, 12185171, 17703176, 19773754, 20604932, 21255008, 22363505, 22401175, 22552879, 23324534, 23417848, 24086645, 24945146, 26015767, 26367725, 26990868, 27083892, 28253295, 29372477, 30078983, 30519866, 30918467, 31527888, 31900242, 32986378, 33256749, 33273611, 34558849, 34868029, 35122482, 35464466, 36152823, 36449533, 36532054, 39222713, 9856808
Inflammation	Inhibit	17513795
Inflammation	Stimulate	22969819, 27690673, 34048779
Inflammatory Bowel Diseases	Stimulate	21087446, 38149258
Inflammatory Bowel Diseases	Associate	33570153
Influenza Human	Associate	22022504
Influenza Human	Stimulate	22396727
Insulin Like Growth Factor I Resistance To	Associate	35538132
Intracranial Aneurysm	Associate	23887838
Intracranial Arterial Diseases	Associate	34237649
Kidney Diseases	Associate	12919091
Kidney Neoplasms	Stimulate	37540227
Latent Tuberculosis	Associate	25528189, 27852671
Leukemia Lymphocytic Chronic B Cell	Associate	10393705, 10627472, 24497611
Leukemia Myeloid Acute	Associate	23919981
Lichen Planus	Associate	17703176, 28760660, 9856808
Lichen Planus Oral	Associate	28253295, 28760660
Light Fixation Seizure Syndrome	Associate	36532054
Liver Cirrhosis	Associate	35159124
Liver Cirrhosis Biliary	Associate	23480180
Lung Diseases	Associate	17550373, 31379071, 31783271
Lung Injury	Associate	25142485
Lung Neoplasms	Associate	36688994
Lupus Erythematosus Cutaneous	Associate	20720564
Lupus Erythematosus Systemic	Associate	19404947, 36741410
Lupus Erythematosus Systemic	Stimulate	37204055
Lupus Nephritis	Stimulate	37204055
Lyme Disease	Associate	17393419, 22246581
Lymphohistiocytosis Hemophagocytic	Stimulate	12930373, 33570715, 34461635
Lymphoma	Associate	10887135
Lymphoma B Cell	Associate	10627472
Lymphoma Large B Cell Diffuse	Associate	22980495, 35181719
Lymphoma T Cell	Stimulate	38489975
Lymphoma T Cell Cutaneous	Associate	9699721
Lymphoproliferative Disorders	Inhibit	10393857
Macular Degeneration	Associate	30894217
Malaria	Stimulate	22689822, 24681005
Malformations of Cortical Development	Associate	23639073
Melanoma	Associate	11571298
Mouth Neoplasms	Associate	33952700
Mucocutaneous Lymph Node Syndrome	Associate	36449533
Multiple Myeloma	Associate	28389623
Multiple Sclerosis	Associate	10079101, 21255008, 32457139
Myasthenia Gravis	Associate	39740367
Myocarditis	Associate	23150742
Myositis Inclusion Body	Stimulate	18420712, 24594700
Myositis Inclusion Body	Associate	32259312
Myotonic Dystrophy	Associate	39529136
Nasopharyngeal Carcinoma	Associate	24278236, 27765529, 32986378
Nasopharyngeal Neoplasms	Associate	32986357
Nasopharyngitis	Associate	32986378
Neoplasm Metastasis	Inhibit	22333315, 30203045, 40725191
Neoplasm Metastasis	Stimulate	31960110
Neoplasm Metastasis	Associate	39210391
Neoplasms	Associate	10627472, 10887135, 12946268, 15063730, 15578685, 19293190, 21085979, 22333315, 22759382, 24129241, 24500664, 27169994, 31176707, 31848186, 31960110, 32191346, 32860283, 33407095, 34085699, 34413454, 35242245, 35377948, 35389889, 35710862, 36266640, 36472587, 36669143, 36798787, 37006314, 37535729, 37586766, 37644593, 37854019, 38095640, 38217023, 38593812, 39210391, 39376571, 40557143
Neoplasms	Inhibit	12782716, 27490802, 34517533
Neoplasms	Stimulate	17666446, 24278236, 26889977, 32081834, 34539647
Neoplasms Adipose Tissue	Associate	31718015
Neoplasms Germ Cell and Embryonal	Associate	20178649
Neoplasms Unknown Primary	Stimulate	23696928
Neurologic Manifestations	Associate	27576738
Neutrophilia Hereditary	Associate	26047816
Non alcoholic Fatty Liver Disease	Associate	34419146
Obesity	Associate	34419146
Obstetric Labor Premature	Stimulate	28829757
Oculocutaneous albinism type 2	Stimulate	17550373
Opsoclonus Myoclonus Syndrome	Associate	23324534, 23600831
Osteosarcoma	Associate	40374042
Ovarian Neoplasms	Associate	27490802, 36645174, 36798787, 37644593, 38143770
Pancreatic Neoplasms	Associate	29157747, 32181755, 34143198, 38095640
Paramyxoviridae Infections	Stimulate	20182399
Paraparesis Tropical Spastic	Associate	34764955
Peripheral Nervous System Diseases	Associate	24080983
Peritonitis	Inhibit	34360900
Pleural Effusion	Associate	36532054
Pneumonia	Inhibit	22022504
Pneumonia	Associate	32941953, 36532054
Polymyalgia Rheumatica	Associate	34237649
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Stimulate	12185171
Post Acute COVID 19 Syndrome	Stimulate	33193384
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	19388934
Prurigo	Stimulate	36806647
Pruritus	Stimulate	38489975
Pseudolymphoma	Associate	17606602
Psoriasis	Associate	20555352, 21255008, 38115636
Pulmonary Disease Chronic Obstructive	Stimulate	19229703
Pulmonary Disease Chronic Obstructive	Associate	31527888, 32757672, 34335580, 34588774
Pyelonephritis	Associate	30905425
Q Fever	Stimulate	28793883
Renal Insufficiency Chronic	Associate	12919091
Respiratory Distress Syndrome	Associate	34163488
Respiratory Tract Infections	Associate	34987646
Retinal Detachment	Stimulate	26015767
Retinal Vein Occlusion	Stimulate	31814701
Retinitis	Associate	35538132
Retinitis Pigmentosa	Stimulate	39472110
Rhabdomyosarcoma	Associate	26037167
Rhegmatogenous Retinal Detachment Autosomal Dominant	Associate	32542038
Rheumatic Heart Disease	Associate	23417848
Salivary Gland Diseases	Associate	12384933
Sarcoidosis	Stimulate	17550373, 24199653
Sarcoidosis	Associate	21255008, 25142485, 31783271, 34399367
Sarcoidosis Pulmonary	Associate	17550373
Scleroderma Localized	Associate	28450066, 37372943, 37471168
Scleroderma Systemic	Associate	21303517, 37372943
Seizures	Associate	23639073
Sepsis	Stimulate	34461635
Severe Acute Respiratory Syndrome	Stimulate	17052299
Sjogren's Syndrome	Stimulate	12384933
Sjogren's Syndrome	Associate	34367157, 38229121
Spinal Cord Diseases	Inhibit	36835179
Spondylitis	Associate	33208100
Spondylitis Ankylosing	Stimulate	16847431
Spondylitis Ankylosing	Associate	40305235
Squamous Cell Carcinoma of Head and Neck	Associate	34247149, 37930937
ST Elevation Myocardial Infarction	Associate	33273611
Stomach Neoplasms	Associate	29690901, 32685487, 32860283, 34251747, 34413454
Stomatitis Aphthous	Stimulate	21478439
Subarachnoid Hemorrhage	Associate	27576738
Systemic Inflammatory Response Syndrome	Stimulate	34461635
Tachycardia Atrioventricular Nodal Reentry	Associate	39210391
Tertiary Lymphoid Structures	Associate	39675785
Thalassemia	Stimulate	24894780
Thyroid Cancer Papillary	Associate	36266640
Thyroiditis Autoimmune	Associate	27245471
Thyroiditis Autoimmune	Stimulate	34868029
Transient erythroblastopenia of childhood	Stimulate	23717673
Triple Negative Breast Neoplasms	Associate	31921107, 35377948, 36472587, 40482645
Tuberculosis	Associate	17921069
Tuberculosis	Stimulate	35785034
Tuberculosis Pulmonary	Associate	25528189
Urinary Bladder Neoplasms	Associate	33407095, 34517533
Vaginosis Bacterial	Associate	30407498
Venous Insufficiency	Inhibit	29439934
Ventricular Dysfunction	Associate	23150742
Virus Diseases	Associate	16785525
Vitiligo	Associate	32035094, 35464413, 35653192
Vitreoretinopathy Proliferative	Stimulate	32542038