CXCL2 (C-X-C motif chemokine ligand 2)

Gene

• Entrez ID: 2920
• Gene name: C-X-C motif chemokine ligand 2
• Gene symbol: CXCL2
• Synonyms (NCBI Gene): CINC-2a, GRO2, GROb, MGSA-b, MIP-2a, MIP2, MIP2A, SCYB2
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residue

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018317	hsa-miR-335-5p	Microarray	18185580
MIRT023893	hsa-miR-1-3p	Microarray	18668037
MIRT027726	hsa-miR-98-5p	Microarray	19088304
MIRT438285	hsa-miR-223-3p	Luciferase reporter assay	24084739
MIRT438285	hsa-miR-223-3p	Luciferase reporter assay	24084739
MIRT733913	hsa-miR-532-5p	Luciferase reporter assay	26807173
MIRT733913	hsa-miR-532-5p	Luciferase reporter assay, qRT-PCR	34093945
MIRT733913	hsa-miR-532-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	32308429
MIRT756209	hsa-miR-4512	Luciferase reporter assay, Western blotting, qRT-PCR	34721432
MIRT756291	hsa-miR-27a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37854860
MIRT918048	hsa-miR-4279	CLIP-seq
MIRT1972118	hsa-miR-1184	CLIP-seq
MIRT1972119	hsa-miR-1205	CLIP-seq
MIRT1972120	hsa-miR-1301	CLIP-seq
MIRT1972121	hsa-miR-3158-5p	CLIP-seq
MIRT1972122	hsa-miR-4660	CLIP-seq
MIRT1972123	hsa-miR-4757-5p	CLIP-seq
MIRT1972124	hsa-miR-5047	CLIP-seq
MIRT2511255	hsa-miR-128	CLIP-seq
MIRT2511256	hsa-miR-141	CLIP-seq
MIRT2511257	hsa-miR-181a	CLIP-seq
MIRT2511258	hsa-miR-181b	CLIP-seq
MIRT2511259	hsa-miR-181c	CLIP-seq
MIRT2511260	hsa-miR-181d	CLIP-seq
MIRT2511261	hsa-miR-190	CLIP-seq
MIRT2511262	hsa-miR-190b	CLIP-seq
MIRT2511263	hsa-miR-192	CLIP-seq
MIRT2511264	hsa-miR-193a-3p	CLIP-seq
MIRT2511265	hsa-miR-193b	CLIP-seq
MIRT2511266	hsa-miR-200a	CLIP-seq
MIRT2511267	hsa-miR-2116	CLIP-seq
MIRT2511268	hsa-miR-215	CLIP-seq
MIRT2511269	hsa-miR-217	CLIP-seq
MIRT2511270	hsa-miR-2276	CLIP-seq
MIRT2511271	hsa-miR-23a	CLIP-seq
MIRT2511272	hsa-miR-23b	CLIP-seq
MIRT2511273	hsa-miR-23c	CLIP-seq
MIRT2511274	hsa-miR-2682	CLIP-seq
MIRT2511275	hsa-miR-27a	CLIP-seq
MIRT2511276	hsa-miR-27b	CLIP-seq
MIRT2511277	hsa-miR-3121-3p	CLIP-seq
MIRT2511278	hsa-miR-3123	CLIP-seq
MIRT2511279	hsa-miR-3143	CLIP-seq
MIRT2511280	hsa-miR-3145-3p	CLIP-seq
MIRT2511281	hsa-miR-3163	CLIP-seq
MIRT2511282	hsa-miR-3168	CLIP-seq
MIRT2511283	hsa-miR-3187-3p	CLIP-seq
MIRT2511284	hsa-miR-320a	CLIP-seq
MIRT2511285	hsa-miR-320b	CLIP-seq
MIRT2511286	hsa-miR-320c	CLIP-seq
MIRT2511287	hsa-miR-320d	CLIP-seq
MIRT2511288	hsa-miR-3545-3p	CLIP-seq
MIRT2511289	hsa-miR-3607-5p	CLIP-seq
MIRT2511290	hsa-miR-3617	CLIP-seq
MIRT2511291	hsa-miR-3662	CLIP-seq
MIRT2511292	hsa-miR-3671	CLIP-seq
MIRT2511293	hsa-miR-3689a-5p	CLIP-seq
MIRT2511294	hsa-miR-3689b	CLIP-seq
MIRT2511295	hsa-miR-3689e	CLIP-seq
MIRT2511296	hsa-miR-3689f	CLIP-seq
MIRT2511297	hsa-miR-3714	CLIP-seq
MIRT2511298	hsa-miR-3925-5p	CLIP-seq
MIRT2511299	hsa-miR-3940-5p	CLIP-seq
MIRT2511300	hsa-miR-409-3p	CLIP-seq
MIRT2511301	hsa-miR-421	CLIP-seq
MIRT2511302	hsa-miR-4261	CLIP-seq
MIRT2511303	hsa-miR-4262	CLIP-seq
MIRT2511304	hsa-miR-432	CLIP-seq
MIRT2511305	hsa-miR-4320	CLIP-seq
MIRT2511306	hsa-miR-4429	CLIP-seq
MIRT2511307	hsa-miR-4446-5p	CLIP-seq
MIRT2511308	hsa-miR-449c	CLIP-seq
MIRT2511309	hsa-miR-4507	CLIP-seq
MIRT2511310	hsa-miR-4517	CLIP-seq
MIRT2511311	hsa-miR-4529-5p	CLIP-seq
MIRT2511312	hsa-miR-4633-5p	CLIP-seq
MIRT2511313	hsa-miR-4637	CLIP-seq
MIRT2511314	hsa-miR-4686	CLIP-seq
MIRT2511315	hsa-miR-4695-3p	CLIP-seq
MIRT2511316	hsa-miR-4755-5p	CLIP-seq
MIRT2511317	hsa-miR-4772-3p	CLIP-seq
MIRT2511318	hsa-miR-4773	CLIP-seq
MIRT2511319	hsa-miR-4789-3p	CLIP-seq
MIRT2511320	hsa-miR-495	CLIP-seq
MIRT2511321	hsa-miR-520d-5p	CLIP-seq
MIRT2511322	hsa-miR-524-5p	CLIP-seq
MIRT2511323	hsa-miR-539	CLIP-seq
MIRT2511324	hsa-miR-543	CLIP-seq
MIRT2511325	hsa-miR-578	CLIP-seq
MIRT2511326	hsa-miR-582-5p	CLIP-seq
MIRT2511327	hsa-miR-607	CLIP-seq
MIRT2511328	hsa-miR-629	CLIP-seq
MIRT2511329	hsa-miR-641	CLIP-seq
MIRT2511330	hsa-miR-670	CLIP-seq
MIRT2511331	hsa-miR-935	CLIP-seq
MIRT2511256	hsa-miR-141	CLIP-seq
MIRT2511257	hsa-miR-181a	CLIP-seq
MIRT2511258	hsa-miR-181b	CLIP-seq
MIRT2511259	hsa-miR-181c	CLIP-seq
MIRT2511260	hsa-miR-181d	CLIP-seq
MIRT2511261	hsa-miR-190	CLIP-seq
MIRT2511262	hsa-miR-190b	CLIP-seq
MIRT2511263	hsa-miR-192	CLIP-seq
MIRT2511264	hsa-miR-193a-3p	CLIP-seq
MIRT2511265	hsa-miR-193b	CLIP-seq
MIRT2511266	hsa-miR-200a	CLIP-seq
MIRT2511267	hsa-miR-2116	CLIP-seq
MIRT2511268	hsa-miR-215	CLIP-seq
MIRT2511269	hsa-miR-217	CLIP-seq
MIRT2511270	hsa-miR-2276	CLIP-seq
MIRT2511271	hsa-miR-23a	CLIP-seq
MIRT2511272	hsa-miR-23b	CLIP-seq
MIRT2511273	hsa-miR-23c	CLIP-seq
MIRT2511274	hsa-miR-2682	CLIP-seq
MIRT2511277	hsa-miR-3121-3p	CLIP-seq
MIRT2511278	hsa-miR-3123	CLIP-seq
MIRT2511279	hsa-miR-3143	CLIP-seq
MIRT2511280	hsa-miR-3145-3p	CLIP-seq
MIRT2511281	hsa-miR-3163	CLIP-seq
MIRT2511282	hsa-miR-3168	CLIP-seq
MIRT2511283	hsa-miR-3187-3p	CLIP-seq
MIRT2511284	hsa-miR-320a	CLIP-seq
MIRT2511285	hsa-miR-320b	CLIP-seq
MIRT2511286	hsa-miR-320c	CLIP-seq
MIRT2511287	hsa-miR-320d	CLIP-seq
MIRT2511288	hsa-miR-3545-3p	CLIP-seq
MIRT2511289	hsa-miR-3607-5p	CLIP-seq
MIRT2511290	hsa-miR-3617	CLIP-seq
MIRT2511291	hsa-miR-3662	CLIP-seq
MIRT2511292	hsa-miR-3671	CLIP-seq
MIRT2511293	hsa-miR-3689a-5p	CLIP-seq
MIRT2511294	hsa-miR-3689b	CLIP-seq
MIRT2511295	hsa-miR-3689e	CLIP-seq
MIRT2511296	hsa-miR-3689f	CLIP-seq
MIRT2511297	hsa-miR-3714	CLIP-seq
MIRT2511298	hsa-miR-3925-5p	CLIP-seq
MIRT2511299	hsa-miR-3940-5p	CLIP-seq
MIRT2511301	hsa-miR-421	CLIP-seq
MIRT2511302	hsa-miR-4261	CLIP-seq
MIRT2511303	hsa-miR-4262	CLIP-seq
MIRT2511304	hsa-miR-432	CLIP-seq
MIRT2511305	hsa-miR-4320	CLIP-seq
MIRT2511306	hsa-miR-4429	CLIP-seq
MIRT2511307	hsa-miR-4446-5p	CLIP-seq
MIRT2511308	hsa-miR-449c	CLIP-seq
MIRT2511309	hsa-miR-4507	CLIP-seq
MIRT2511310	hsa-miR-4517	CLIP-seq
MIRT2511311	hsa-miR-4529-5p	CLIP-seq
MIRT2511312	hsa-miR-4633-5p	CLIP-seq
MIRT2511313	hsa-miR-4637	CLIP-seq
MIRT2511314	hsa-miR-4686	CLIP-seq
MIRT2511315	hsa-miR-4695-3p	CLIP-seq
MIRT2511316	hsa-miR-4755-5p	CLIP-seq
MIRT2511317	hsa-miR-4772-3p	CLIP-seq
MIRT2511318	hsa-miR-4773	CLIP-seq
MIRT2511319	hsa-miR-4789-3p	CLIP-seq
MIRT2511320	hsa-miR-495	CLIP-seq
MIRT2511321	hsa-miR-520d-5p	CLIP-seq
MIRT2511322	hsa-miR-524-5p	CLIP-seq
MIRT2511324	hsa-miR-543	CLIP-seq
MIRT2511325	hsa-miR-578	CLIP-seq
MIRT2511326	hsa-miR-582-5p	CLIP-seq
MIRT2511327	hsa-miR-607	CLIP-seq
MIRT2511328	hsa-miR-629	CLIP-seq
MIRT2511329	hsa-miR-641	CLIP-seq
MIRT2511330	hsa-miR-670	CLIP-seq
MIRT2511331	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	17363596
RELA	Unknown	17363596
SMAD1	Unknown	17363596

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002237	Process	Response to molecule of bacterial origin	IDA	19912257
GO:0005515	Function	Protein binding	IPI	18275857, 21314817, 28381538
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0006935	Process	Chemotaxis	TAS	2643119
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0008009	Function	Chemokine activity	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030593	Process	Neutrophil chemotaxis	IBA	21873635
GO:0045236	Function	CXCR chemokine receptor binding	IBA	21873635
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

Other IDs

• MIM: 139110
• HGNC: 4603
• e!Ensembl: ENSG00000081041

Protein

• UniProt ID: P19875
• Protein name: C-X-C motif chemokine 2 (Growth-regulated protein beta) (Gro-beta) (Macrophage inflammatory protein 2-alpha) (MIP2-alpha) [Cleaved into: GRO-beta(5-73) (GRO-beta-T) (Hematopoietic synergistic factor) (HSF) (SB-251353)]
• Protein function: Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic act
• PDB: 1QNK, 5OB5, 8XVU, 8XXH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00048	IL8	41 → 100	Small cytokines (intecrine/chemokine), interleukin-8 like	Domain

• Sequence:

  MARATLSAAPSNPRLLRVALLLLLLVAASRRAAGAPLATELRCQCLQTLQGIHLKNIQSV
  KVKSPGPHCAQTEVIATLKNGQKACLNPASPMVKKIIEKMLKNGKSN

• Sequence length: 107

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway
NF-kappa B signaling pathway
NOD-like receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Alcoholic liver disease
Epithelial cell signaling in Helicobacter pylori infection
Legionellosis
Amoebiasis
Kaposi sarcoma-associated herpesvirus infection
Rheumatoid arthritis
Lipid and atherosclerosis

Reactome:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	15292528
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
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	21224055
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23178550
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21509778
Hypertension	Hypertensive disease	rs13306026	22352330
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
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	16324872
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	15292528

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		23099361	ClinVar
Congestive heart failure	Congestive heart failure		22352330	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		22352330	ClinVar
Myocardial infarction	Myocardial Failure		22352330	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Lung Injury	Associate	37603512
Adenocarcinoma	Associate	34269159
Adenocarcinoma of Lung	Associate	40682067
Adenoma	Associate	21249124
Adrenocortical Carcinoma	Associate	35500219
Alopecia Areata	Associate	26345899
Amyotrophic Lateral Sclerosis	Associate	28437540
Arthritis Experimental	Stimulate	15146413
Arthritis Juvenile	Associate	39699225
Arthritis Rheumatoid	Associate	18205922, 28767591
Ascites	Associate	26063953
Asthma	Associate	18774390, 23904157
Asthma	Stimulate	24641287
Bacterial Infections	Associate	24795505
Behcet Syndrome	Associate	36226612
Brain Neoplasms	Associate	33807899
Breast Neoplasms	Associate	18045955, 25999348, 29495008, 32988253
Calcinosis Cutis	Associate	35940046
Carcinogenesis	Associate	25801245, 26063953
Carcinoma Hepatocellular	Associate	25801245, 32267022, 34085699, 34429454, 36411463, 36938723
Carcinoma Hepatocellular	Stimulate	27117207
Carcinoma Non Small Cell Lung	Associate	21298036
Carcinoma Ovarian Epithelial	Associate	33530204, 34474677
Carcinoma Pancreatic Ductal	Associate	34789165
Carcinoma Renal Cell	Associate	32481352
Carcinoma Renal Cell	Stimulate	37540227
Carcinoma Squamous Cell	Associate	33588862
Cartilage Diseases	Associate	18205922
Cerebral Hemorrhage	Stimulate	20420814
Cerebral Infarction	Associate	31183363, 35856366
Cholangiocarcinoma	Associate	24935374
Colonic Neoplasms	Associate	36246978, 38031087
Colorectal Neoplasms	Associate	26208990, 28811711, 31781593, 34419055, 39940699
Colorectal Neoplasms	Stimulate	32337262, 34233297
Congenital heart block	Associate	28626076
Coronavirus Infections	Associate	34176764
COVID 19	Associate	34020127, 35277538, 36127160
Crohn Disease	Associate	35647843, 39199011
Diabetic Nephropathies	Associate	37656997
Drug Hypersensitivity	Stimulate	24641287
Dyskeratosis Congenita	Associate	37717172
Endometrial Neoplasms	Associate	38232115
Enterocolitis Necrotizing	Associate	34269788
Eosinophilic enteropathy	Associate	35090021
Eosinophilic Esophagitis	Stimulate	21211656
Escherichia coli Infections	Stimulate	14500482
Esophageal Squamous Cell Carcinoma	Associate	21677836
Femoracetabular Impingement	Associate	23965695
Fibrosis	Associate	26314558
Gastritis	Associate	34471638
Gastrointestinal Stromal Tumors	Associate	25944970
Glioblastoma	Associate	33571109, 33807899, 35856448
Glomerulonephritis IGA	Associate	35647843
Hepatitis B	Stimulate	31106596
Hepatitis B Chronic	Associate	32267022
Hepatitis C	Associate	26314558
Hepatitis C	Stimulate	33785040
Hip Injuries	Associate	23965695
Hyperaldosteronism	Associate	39252231
Immune System Diseases	Associate	39252231
Infections	Stimulate	11665982, 25404022, 36131109
Infections	Associate	20962773, 34176764
Inflammation	Associate	12928151, 18334611, 20444268, 21084274, 21249124, 24778119, 24841635, 25944970, 26330750, 27163710, 27416040, 28437540, 30963789, 31106596, 35090021, 35690236, 36226612, 36902343, 37192896, 37372943, 37717172, 37957648, 38199515
Inflammation	Stimulate	31991796, 35412793
Inflammatory Bowel Diseases	Associate	38199515
Intervertebral Disc Degeneration	Associate	24795505, 35042389
Kidney Neoplasms	Stimulate	37540227
Leukemia Large Granular Lymphocytic	Associate	18086899
Leukemia Monocytic Acute	Associate	10765922, 27545880
Leukemia Myeloid Acute	Associate	27545880, 31617252
Liver Diseases	Associate	39619227
Lung Neoplasms	Associate	30871526
Lymphatic Metastasis	Stimulate	21677836
Lymphatic Metastasis	Associate	25801245, 34789197
Lymphoma Large B Cell Diffuse	Associate	22980495
Macrophage Activation Syndrome	Associate	24795505
Measles	Associate	17538120
Melanoma	Associate	15899804, 35940046
Melanoma	Stimulate	30870978
Meningeal Neoplasms	Associate	37916326
Meningioma	Associate	34859836
Multiple Myeloma	Associate	34761615
Muscular Atrophy	Associate	30605403
Myocardial Infarction	Associate	31772617, 39809140
Neoplasm Invasiveness	Associate	18096634
Neoplasm Metastasis	Associate	18045955, 21677836, 22753015, 25801245, 27117207, 33530204, 37166450
Neoplasm Metastasis	Stimulate	26063953
Neoplasms	Associate	18045955, 18096634, 24500664, 24935374, 25944970, 28855340, 30254191, 32339056, 33530204, 33571109, 34233297, 34247149, 34269159, 34474677, 34789165, 34859836, 34885960, 35181719, 35280694, 37656220, 37686093, 37960824, 38031087
Neoplasms	Inhibit	21298036, 29495008, 34517533
Neoplasms	Stimulate	34534729
Neoplasms Adipose Tissue	Associate	35894174
Non alcoholic Fatty Liver Disease	Associate	33603714
Obesity	Associate	35894174, 37063877
Obesity	Stimulate	37166450
Osteolysis	Associate	24795505
Osteomyelitis	Associate	24795505
Osteosarcoma	Associate	32643867, 38341855
Ovarian Neoplasms	Associate	23300534, 24376747, 26063953, 33530204, 38527595
Pancreatic Neoplasms	Associate	36012531
Periodic fever familial autosomal dominant	Associate	39809140
Periodontitis	Associate	35154475, 37063877
Periprosthetic Fractures	Associate	35306116
Pneumococcal Infections	Stimulate	12952922
Polycystic Ovary Syndrome	Inhibit	22344199
Polycystic Ovary Syndrome	Associate	24279306
Prostatic Neoplasms	Associate	32339056, 36524848, 37698493
Psoriasis	Associate	38115636
Pyoderma Gangrenosum	Stimulate	24903614
Pyoderma Gangrenosum	Associate	25501066
Sarcoidosis	Associate	33276795
Sarcoma	Associate	34982796
Scleroderma Localized	Associate	37372943
Sleep Apnea Obstructive	Associate	39252231
Status Asthmaticus	Associate	23904157
Stomach Neoplasms	Associate	36281171
Sweet Syndrome	Associate	24903614
Tertiary Lymphoid Structures	Stimulate	26063953
Thrombosis	Associate	36226612
Tibial Meniscus Injuries	Inhibit	24315792
Urinary Bladder Neoplasms	Associate	29854840
Urinary Bladder Neoplasms	Inhibit	34517533
Uterine Cervical Neoplasms	Associate	34789197
Virus Diseases	Associate	18086899
Vitreoretinopathy Proliferative	Associate	33509158