IL6R (interleukin 6 receptor)

Gene

• Entrez ID: 3570
• Gene name: Interleukin 6 receptor
• Gene symbol: IL6R
• Synonyms: CD126, HIES5, IL-1Ra, IL-6R, IL-6R-1, IL-6RA, IL6Q, IL6QTL, IL6RA, IL6RQ, gp80
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005528	hsa-miR-23a-3p	GFP reporter assay, Microarray, qRT-PCR, Western blot	20698883
MIRT006541	hsa-miR-124-3p	ELISA, Flow, Immunohistochemistry, Immunoprecipitaion, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22153071
MIRT006541	hsa-miR-124-3p	ELISA, Flow, qRT-PCR, Western blot	27824145
MIRT006844	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	22942733
MIRT006844	hsa-miR-125b-5p	Luciferase reporter assay, Western blot	22824797
MIRT027423	hsa-miR-98-5p	Microarray	19088304
MIRT027423	hsa-miR-98-5p	PAR-CLIP	27292025
MIRT054843	hsa-miR-451a	qRT-PCR, Western blot	24445140
MIRT054843	hsa-miR-451a	HITS-CLIP	19536157
MIRT054843	hsa-miR-451a	Luciferase reporter assay	25623956
MIRT438702	hsa-miR-34c-5p	ChIP-seq, Immunofluorescence, qRT-PCR, Western blot	24642471
MIRT438703	hsa-miR-34b-3p	ChIP-seq, Immunofluorescence, qRT-PCR, Western blot	24642471
MIRT438704	hsa-miR-34a-5p	ChIP-seq, Immunofluorescence, qRT-PCR, Western blot	24642471
MIRT438704	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25973020
MIRT438704	hsa-miR-34a-5p	Luciferase reporter assay	26091352
MIRT523005	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT523006	hsa-miR-3619-3p	PAR-CLIP	23446348
MIRT523007	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT523008	hsa-miR-5095	PAR-CLIP	23446348
MIRT523009	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT523010	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT523011	hsa-miR-1292-3p	PAR-CLIP	23446348
MIRT523012	hsa-miR-6747-3p	PAR-CLIP	23446348
MIRT523013	hsa-miR-6727-3p	PAR-CLIP	23446348
MIRT523014	hsa-miR-4722-3p	PAR-CLIP	23446348
MIRT523015	hsa-miR-4793-5p	PAR-CLIP	23446348
MIRT523016	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT523017	hsa-miR-4438	PAR-CLIP	23446348
MIRT646819	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT646820	hsa-miR-5096	HITS-CLIP	23824327
MIRT646821	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT646822	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT646823	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT646824	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT687883	hsa-miR-7156-3p	HITS-CLIP	23313552
MIRT687884	hsa-miR-215-5p	HITS-CLIP	23313552
MIRT687885	hsa-miR-192-5p	HITS-CLIP	23313552
MIRT687886	hsa-miR-4284	HITS-CLIP	23313552
MIRT687887	hsa-miR-6821-3p	HITS-CLIP	23313552
MIRT687888	hsa-miR-6790-3p	HITS-CLIP	23313552
MIRT687889	hsa-miR-1184	HITS-CLIP	23313552
MIRT687890	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT687891	hsa-miR-1307-3p	HITS-CLIP	23313552
MIRT687892	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT687893	hsa-miR-6741-3p	HITS-CLIP	23313552
MIRT687894	hsa-miR-4726-3p	HITS-CLIP	23313552
MIRT687895	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT687896	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT687897	hsa-miR-6840-3p	HITS-CLIP	23313552
MIRT687898	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT687899	hsa-miR-509-5p	HITS-CLIP	23313552
MIRT687900	hsa-miR-509-3-5p	HITS-CLIP	23313552
MIRT687901	hsa-miR-4418	HITS-CLIP	23313552
MIRT714005	hsa-miR-7641	HITS-CLIP	19536157
MIRT714006	hsa-miR-2052	HITS-CLIP	19536157
MIRT714007	hsa-miR-4695-3p	HITS-CLIP	19536157
MIRT714008	hsa-miR-4330	HITS-CLIP	19536157
MIRT714009	hsa-miR-5680	HITS-CLIP	19536157
MIRT714010	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT714011	hsa-miR-1537-3p	HITS-CLIP	19536157
MIRT714012	hsa-miR-548ay-3p	HITS-CLIP	19536157
MIRT714013	hsa-miR-548at-3p	HITS-CLIP	19536157
MIRT732213	hsa-miR-221-5p	Luciferase reporter assay, qRT-PCR, Western blot	26645045
MIRT733119	hsa-let-7c-3p	Luciferase reporter assay, qRT-PCR	26455324
MIRT760969	hsa-let-7a-5p	PAR-CLIP	27292025
MIRT760982	hsa-let-7b-5p	PAR-CLIP	27292025
MIRT760995	hsa-let-7c-5p	PAR-CLIP	27292025
MIRT761006	hsa-let-7d-5p	PAR-CLIP	27292025
MIRT761015	hsa-let-7e-5p	PAR-CLIP	27292025
MIRT761029	hsa-let-7f-5p	PAR-CLIP	27292025
MIRT761042	hsa-let-7g-5p	PAR-CLIP	27292025
MIRT761052	hsa-let-7i-5p	PAR-CLIP	27292025
MIRT761741	hsa-miR-126-5p	PAR-CLIP	27292025
MIRT762122	hsa-miR-1277-3p	PAR-CLIP	27292025
MIRT763680	hsa-miR-202-3p	PAR-CLIP	27292025
MIRT763908	hsa-miR-219a-1-3p	PAR-CLIP	27292025
MIRT765637	hsa-miR-331-5p	PAR-CLIP	27292025
MIRT769221	hsa-miR-4458	PAR-CLIP	27292025
MIRT769801	hsa-miR-4500	PAR-CLIP	27292025
MIRT770919	hsa-miR-4678	PAR-CLIP	27292025
MIRT771823	hsa-miR-4738-3p	PAR-CLIP	27292025
MIRT772488	hsa-miR-4795-3p	PAR-CLIP	27292025
MIRT772776	hsa-miR-495-3p	PAR-CLIP	27292025
MIRT773320	hsa-miR-510-3p	PAR-CLIP	27292025
MIRT773445	hsa-miR-515-5p	PAR-CLIP	27292025
MIRT773729	hsa-miR-519d-5p	PAR-CLIP	27292025
MIRT773742	hsa-miR-519e-5p	PAR-CLIP	27292025
MIRT774071	hsa-miR-548ae-3p	PAR-CLIP	27292025
MIRT774091	hsa-miR-548ah-3p	PAR-CLIP	27292025
MIRT774118	hsa-miR-548aj-3p	PAR-CLIP	27292025
MIRT774141	hsa-miR-548am-3p	PAR-CLIP	27292025
MIRT774178	hsa-miR-548aq-3p	PAR-CLIP	27292025
MIRT774425	hsa-miR-548j-3p	PAR-CLIP	27292025
MIRT774563	hsa-miR-548x-3p	PAR-CLIP	27292025
MIRT774710	hsa-miR-5582-3p	PAR-CLIP	27292025
MIRT774982	hsa-miR-5688	PAR-CLIP	27292025
MIRT775103	hsa-miR-5695	PAR-CLIP	27292025
MIRT775234	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT776131	hsa-miR-630	PAR-CLIP	27292025
MIRT776632	hsa-miR-6509-5p	PAR-CLIP	27292025
MIRT777284	hsa-miR-653-5p	PAR-CLIP	27292025

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Repression	14764586

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002384	Process	Hepatic immune response	TAS	12832423
GO:0002548	Process	Monocyte chemotaxis	IC	10510402
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	TAS	15100312
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0004897	Function	Ciliary neurotrophic factor receptor activity	IMP	12643274
GO:0004915	Function	Interleukin-6 receptor activity	IDA	2261637
GO:0004921	Function	Interleukin-11 receptor activity	IBA	21873635
GO:0005138	Function	Interleukin-6 receptor binding	IPI	12829785
GO:0005515	Function	Protein binding	IPI	11238858, 12829785, 16034137, 18775332, 28265003, 32296183
GO:0005576	Component	Extracellular region	IDA	12748171
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005896	Component	Interleukin-6 receptor complex	IDA	2261637, 12829785
GO:0006953	Process	Acute-phase response	TAS	12832423
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	2261637
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	18719127
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0010536	Process	Positive regulation of activation of Janus kinase activity	IBA	21873635
GO:0010573	Process	Vascular endothelial growth factor production	IDA	12794819
GO:0016324	Component	Apical plasma membrane	IDA	16034137
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	2261637
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019899	Function	Enzyme binding	IPI	12748171
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0019970	Function	Interleukin-11 binding	IBA	21873635
GO:0019981	Function	Interleukin-6 binding	IBA	21873635
GO:0019981	Function	Interleukin-6 binding	IPI	12829785
GO:0031018	Process	Endocrine pancreas development	IC	18719127
GO:0031018	Process	Endocrine pancreas development	IMP	18719127
GO:0032722	Process	Positive regulation of chemokine production	IDA	10510402
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	10510402
GO:0034097	Process	Response to cytokine	IDA	2261637
GO:0038154	Process	Interleukin-11-mediated signaling pathway	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	12643274
GO:0042803	Function	Protein homodimerization activity	IPI	12633863
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0045669	Process	Positive regulation of osteoblast differentiation	TAS	12372336
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	10510402
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	11884403
GO:0050829	Process	Defense response to Gram-negative bacterium	TAS	16034137
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IBA	21873635
GO:0070102	Process	Interleukin-6-mediated signaling pathway	IMP	12643274
GO:0070102	Process	Interleukin-6-mediated signaling pathway	TAS
GO:0070110	Component	Ciliary neurotrophic factor receptor complex	IDA	12643274
GO:0070119	Function	Ciliary neurotrophic factor binding	IPI	12643274
GO:0070120	Process	Ciliary neurotrophic factor-mediated signaling pathway	IMP	12643274
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IMP	26563755
GO:0072540	Process	T-helper 17 cell lineage commitment	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	TAS	15100312

Other IDs

• MIM: 147880
• HGNC: 6019
• e!Ensembl: ENSG00000160712

Protein

• UniProt ID: P08887
• Protein name: Interleukin-6 receptor subunit alpha (IL-6 receptor subunit alpha) (IL-6R subunit alpha) (IL-6R-alpha) (IL-6RA) (IL-6R 1) (Membrane glycoprotein 80) (gp80) (CD antigen CD126) [Cleaved into: Soluble interleukin-6 receptor subunit alpha (sIL6R)]
• Protein function: Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (Probable). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the liver and some cells of the immune system. Whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable). ; [Isoform 1]: Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory (Probable). Drives naive CD4(+) T cells to the Th17 lineage, through 'cluster signaling' by dendritic cells (By similarity). ; [Isoform 2]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity). ; [Soluble interleukin-6 receptor subunit alpha]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity).
• PDB: 1N26, 1N2Q, 1P9M, 2ARW, 5FUC, 7DC8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	30 → 101	Immunoglobulin domain	Domain
  PF09240	IL6Ra-bind	118 → 213	Interleukin-6 receptor alpha chain, binding	Domain

• Sequence:

  MLAVGCALLAALLAAPGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHW
  VLRKPAAGSHPSRWAGMGRRLLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLS
  CFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAEDFQEPCQYSQESQKFSCQLAV
  PEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD
  PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQ
  GEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSS
  SVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRP
  TPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR

• Sequence length: 468

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
HIF-1 signaling pathway
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Th17 cell differentiation
Non-alcoholic fatty liver disease
Human cytomegalovirus infection
Coronavirus disease - COVID-19
Pathways in cancer

Reactome:

Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	16367923
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	8067274
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21907864, 29902480, 29273806
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	7834629
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs-1, rs770372675	30061737, 29892015
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs-1	7834629
Rheumatoid arthritis	Rheumatoid Arthritis, Rheumatoid Arthritis, Systemic Juvenile	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963	30423114, 16729287, 23143596, 24390342, 24532676, 23603761
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125, 26343387, 29212778, 28714975
Coronary heart disease	Coronary heart disease	rs-1	22319020
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs-1, rs1584238193	22552503
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	26343387
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs-1, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	25340798
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	7834629
Aortic aneurysm	Aortic Aneurysm, Abdominal	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs-1, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	27899403
Psoriasis	Psoriasis	rs-1, rs281875215, rs587777763, rs281875213, rs281875212	26974007
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	26482879
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	15995586
Arthritis	Systemic onset juvenile chronic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	23603761

Unknown
Disease name	Disease term	dbSNP ID	References
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	21496483
Ankylosing spondylitis	Ankylosing spondylitis		23749187, 26974007
Cholangitis	Cholangitis, Sclerosing		26974007
Eczema	Eczema		30595370, 31235509
Oligoarticular arthritis	Oligoarticular Juvenile Idiopathic Arthritis		23603761
Pauciarticular chronic arthritis	Juvenile pauciarticular chronic arthritis		23603761
Seronegative polyarthritis	Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative		23603761
Respiratory tract diseases	Respiratory Tract Diseases		30595370
Still disease	Juvenile-Onset Still Disease		23603761
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		16367923
Ulcerative colitis	Ulcerative Colitis		26974007
Uveitis	Anterior uveitis		25200001