IL23R (interleukin 23 receptor)

Gene

• Entrez ID: 149233
• Gene name: Interleukin 23 receptor
• Gene symbol: IL23R
• Synonyms: PSORS7
• Chromosome: 1
• Chromosome location: 1p31.3
• Summary: The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT646786	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT646784	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT646785	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT646783	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT646782	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT646781	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT646779	hsa-miR-3666	HITS-CLIP	23824327
MIRT646780	hsa-miR-4295	HITS-CLIP	23824327
MIRT646778	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT646777	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT646776	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT646775	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT646774	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT646773	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	Flow, Luciferase reporter assay, qRT-PCR	25863684
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT646786	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT646784	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT646785	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT646783	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT646782	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT646781	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT646779	hsa-miR-3666	HITS-CLIP	23824327
MIRT646780	hsa-miR-4295	HITS-CLIP	23824327
MIRT646778	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT646777	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT646776	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT646775	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT646774	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT646773	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT626119	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626118	hsa-miR-764	HITS-CLIP	23824327
MIRT626117	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626116	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT626115	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT626114	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT626113	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT626112	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT626111	hsa-miR-640	HITS-CLIP	23824327
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT1064614	hsa-miR-1279	CLIP-seq
MIRT1064615	hsa-miR-1297	CLIP-seq
MIRT1064616	hsa-miR-1343	CLIP-seq
MIRT1064617	hsa-miR-150	CLIP-seq
MIRT1064618	hsa-miR-1976	CLIP-seq
MIRT1064619	hsa-miR-2052	CLIP-seq
MIRT1064620	hsa-miR-26a	CLIP-seq
MIRT1064621	hsa-miR-26b	CLIP-seq
MIRT1064622	hsa-miR-3126-5p	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064624	hsa-miR-3160-5p	CLIP-seq
MIRT1064625	hsa-miR-3187-3p	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT1064627	hsa-miR-3667-3p	CLIP-seq
MIRT1064628	hsa-miR-3714	CLIP-seq
MIRT1064629	hsa-miR-378	CLIP-seq
MIRT1064630	hsa-miR-378b	CLIP-seq
MIRT1064631	hsa-miR-378c	CLIP-seq
MIRT1064632	hsa-miR-378d	CLIP-seq
MIRT1064633	hsa-miR-378e	CLIP-seq
MIRT1064634	hsa-miR-378f	CLIP-seq
MIRT1064635	hsa-miR-378h	CLIP-seq
MIRT1064636	hsa-miR-378i	CLIP-seq
MIRT1064637	hsa-miR-422a	CLIP-seq
MIRT1064638	hsa-miR-4279	CLIP-seq
MIRT1064639	hsa-miR-4297	CLIP-seq
MIRT1064640	hsa-miR-4419a	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT1064643	hsa-miR-4435	CLIP-seq
MIRT1064644	hsa-miR-4465	CLIP-seq
MIRT1064645	hsa-miR-450b-5p	CLIP-seq
MIRT1064646	hsa-miR-4510	CLIP-seq
MIRT1064647	hsa-miR-4668-5p	CLIP-seq
MIRT1064648	hsa-miR-4678	CLIP-seq
MIRT1064649	hsa-miR-4701-5p	CLIP-seq
MIRT1064650	hsa-miR-4708-3p	CLIP-seq
MIRT1064651	hsa-miR-4715-3p	CLIP-seq
MIRT1064652	hsa-miR-4722-3p	CLIP-seq
MIRT1064653	hsa-miR-4755-3p	CLIP-seq
MIRT1064654	hsa-miR-507	CLIP-seq
MIRT1064655	hsa-miR-548s	CLIP-seq
MIRT1064656	hsa-miR-557	CLIP-seq
MIRT1064657	hsa-miR-562	CLIP-seq
MIRT1064658	hsa-miR-588	CLIP-seq
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT2015373	hsa-miR-216a	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT2015374	hsa-miR-668	CLIP-seq
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT1064615	hsa-miR-1297	CLIP-seq
MIRT1064616	hsa-miR-1343	CLIP-seq
MIRT1064618	hsa-miR-1976	CLIP-seq
MIRT2015373	hsa-miR-216a	CLIP-seq
MIRT1064620	hsa-miR-26a	CLIP-seq
MIRT1064621	hsa-miR-26b	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT1064627	hsa-miR-3667-3p	CLIP-seq
MIRT1064638	hsa-miR-4279	CLIP-seq
MIRT1064639	hsa-miR-4297	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT1064644	hsa-miR-4465	CLIP-seq
MIRT2389366	hsa-miR-28-5p	CLIP-seq
MIRT2389367	hsa-miR-3139	CLIP-seq
MIRT2389368	hsa-miR-708	CLIP-seq
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT2451749	hsa-miR-1324	CLIP-seq
MIRT2451750	hsa-miR-2054	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT2451751	hsa-miR-411	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT1064651	hsa-miR-4715-3p	CLIP-seq
MIRT2451752	hsa-miR-4735-5p	CLIP-seq
MIRT2451753	hsa-miR-4743	CLIP-seq
MIRT2451754	hsa-miR-4775	CLIP-seq
MIRT2451755	hsa-miR-4797-5p	CLIP-seq
MIRT2451756	hsa-miR-590-3p	CLIP-seq
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT1064615	hsa-miR-1297	CLIP-seq
MIRT2451749	hsa-miR-1324	CLIP-seq
MIRT1064616	hsa-miR-1343	CLIP-seq
MIRT1064618	hsa-miR-1976	CLIP-seq
MIRT1064620	hsa-miR-26a	CLIP-seq
MIRT1064621	hsa-miR-26b	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT1064627	hsa-miR-3667-3p	CLIP-seq
MIRT1064638	hsa-miR-4279	CLIP-seq
MIRT1064639	hsa-miR-4297	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT1064644	hsa-miR-4465	CLIP-seq
MIRT1064652	hsa-miR-4722-3p	CLIP-seq
MIRT2451755	hsa-miR-4797-5p	CLIP-seq
MIRT1064613	hsa-miR-122	CLIP-seq
MIRT2451749	hsa-miR-1324	CLIP-seq
MIRT1064623	hsa-miR-3135b	CLIP-seq
MIRT1064626	hsa-miR-3652	CLIP-seq
MIRT1064641	hsa-miR-4423-5p	CLIP-seq
MIRT1064642	hsa-miR-4430	CLIP-seq
MIRT2451755	hsa-miR-4797-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	ISS
GO:0002230	Process	Positive regulation of defense response to virus by host	IDA	12421946
GO:0002230	Process	Positive regulation of defense response to virus by host	ISS
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IDA	15114670
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	ISS
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0005143	Function	Interleukin-12 receptor binding	IBA	21873635
GO:0005143	Function	Interleukin-12 receptor binding	IPI	12023369
GO:0005515	Function	Protein binding	IPI	12023369, 25416956
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0010536	Process	Positive regulation of activation of Janus kinase activity	IC	12023369
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0032496	Process	Response to lipopolysaccharide	IDA	12023369
GO:0032693	Process	Negative regulation of interleukin-10 production	IMP	16751425
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IC	20027291
GO:0032729	Process	Positive regulation of interferon-gamma production	IC	20027291
GO:0032729	Process	Positive regulation of interferon-gamma production	IDA	11114383
GO:0032729	Process	Positive regulation of interferon-gamma production	TAS	19088061
GO:0032735	Process	Positive regulation of interleukin-12 production	IDA	20027291
GO:0032740	Process	Positive regulation of interleukin-17 production	IC	17888176
GO:0032819	Process	Positive regulation of natural killer cell proliferation	IC	19088061
GO:0034341	Process	Response to interferon-gamma	IDA	12023369
GO:0038155	Process	Interleukin-23-mediated signaling pathway	TAS
GO:0042019	Function	Interleukin-23 binding	IBA	21873635
GO:0042019	Function	Interleukin-23 binding	IPI	12023369
GO:0042020	Function	Interleukin-23 receptor activity	IDA	12023369
GO:0042102	Process	Positive regulation of T cell proliferation	IC	12023369
GO:0042104	Process	Positive regulation of activated T cell proliferation	IC	11114383
GO:0042509	Process	Regulation of tyrosine phosphorylation of STAT protein	IC	12023369
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IC	12023369, 19088061
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043382	Process	Positive regulation of memory T cell differentiation	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	IC	17888176
GO:0050829	Process	Defense response to Gram-negative bacterium	IC	15114670
GO:0051135	Process	Positive regulation of NK T cell activation	IC	19088061
GO:0072536	Component	Interleukin-23 receptor complex	IBA	21873635
GO:0072536	Component	Interleukin-23 receptor complex	IDA	12023369
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	ISS
GO:2000330	Process	Positive regulation of T-helper 17 cell lineage commitment	ISS

Other IDs

• MIM: 607562
• HGNC: 19100
• e!Ensembl: ENSG00000162594

Protein

• UniProt ID: Q5VWK5
• Protein name: Interleukin-23 receptor (IL-23 receptor) (IL-23R)
• Protein function: Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in inn
• PDB: 5MZV, 6WDQ, 8OE4
• Sequence:

  MNQVTIQWDAVIALYILFSWCHGGITNINCSGHIWVEPATIFKMGMNISIYCQAAIKNCQ
  PRKLHFYKNGIKERFQITRINKTTARLWYKNFLEPHASMYCTAECPKHFQETLICGKDIS
  SGYPPDIPDEVTCVIYEYSGNMTCTWNAGKLTYIDTKYVVHVKSLETEEEQQYLTSSYIN
  ISTDSLQGGKKYLVWVQAANALGMEESKQLQIHLDDIVIPSAAVISRAETINATVPKTII
  YWDSQTTIEKVSCEMRYKATTNQTWNVKEFDTNFTYVQQSEFYLEPNIKYVFQVRCQETG
  KRYWQPWSSLFFHKTPETVPQVTSKAFQHDTWNSGLTVASISTGHLTSDNRGDIGLLLGM
  IVFAVMLSILSLIGIFNRSFRTGIKRRILLLIPKWLYEDIPNMKNSNVVKMLQENSELMN
  NNSSEQVLYVDPMITEIKEIFIPEHKPTDYKKENTGPLETRDYPQNSLFDNTTVVYIPDL
  NTGYKPQISNFLPEGSHLSNNNEITSLTLKPPVDSLDSGNNPRLQKHPNFAFSVSSVNSL
  SNTIFLGELSLILNQGECSSPDIQNSVEEETTMLLENDSPSETIPEQTLLPDEFVSCLGI
  VNEELPSINTYFPQNILESHFNRISLLEK

• Sequence length: 629

Pathways

KEGG:

Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Th17 cell differentiation
Pathways in cancer
Inflammatory bowel disease

Reactome:

Interleukin-4 and Interleukin-13 signaling
Interleukin-23 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26301688
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	26301688
Behcet syndrome	Behcet Syndrome, Behçet disease	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741	23633568
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	26301688
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	26301688
Inflammatory bowel disease	Inflammatory Bowel Diseases, Inflammatory Bowel Disease 17	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	18758464, 23128233, 17068223, 26192919, 23291587, 21983784, 28067908
Leprosy	Leprosy	rs121917864, rs2239704	22019778
Migraine	Migraine Disorders	rs794727411
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26301688, 20953190, 19169254, 20953187, 25574825, 25903422, 26974007, 24212883
Renal insufficiency	Renal Insufficiency	rs1596536873
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne
Ankylosing spondylitis	Ankylosing spondylitis		20062062, 21743469, 23749187, 26301688, 26974007, 17952073
Anorexia	Anorexia
Aortic valve insufficiency	Aortic Valve Insufficiency
Aphthous ulcer	Recurrent aphthous ulcer
Autoimmune thyroiditis	Autoimmune thyroiditis		26301688
Celiac disease	Celiac Disease	rs2305764, rs35218876	26301688
Cholangitis	Cholangitis, Sclerosing		26974007
Cranial nerve paralysis	Cranial nerve palsies
Crohn disease	Crohn Disease, Regional enteritis, NON RARE IN EUROPE: Crohn disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	17554300, 22293688, 21102463, 22936669, 23850713, 26301688, 17447842, 18587394, 20570966, 17068223, 30500874, 18438406, 17684544, 17804789, 17435756, 22412388, 26974007, 28067908, 26192919, 18438406, 17435756
Crohn`s disease of large bowel	Crohn`s disease of large bowel		17435756, 18438406
Crohn`s disease of the ileum	Crohn`s disease of the ileum		17435756, 18438406
Encephalitis	Encephalitis
Endocarditis	Endocarditis
Gangrene	Gangrene
Ileocolitis	IIeocolitis		17435756, 18438406
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Lupus erythematosus	Lupus Erythematosus, Systemic		26301688
Malabsorption syndrome	Malabsorption Syndrome
Myositis	Myositis
Oral ulcer	Oral Ulcer
Palmoplantar pustules	Pustulosis of Palms and Soles		24212883, 20953190, 19169254
Pancreatitis	Pancreatitis	rs61734659
Pericarditis	Pericarditis
Pleural effusion	Pleural effusion disorder
Pleuritis	Pleurisy
Psoriatic arthritis	Arthritis, Psoriatic		30552173
Renal glomerular disease	Renal glomerular disease
Retinal diseases	Retinal Diseases
Retrobulbar neuritis	Retrobulbar Neuritis
Ulcerative colitis	Ulcerative Colitis, NON RARE IN EUROPE: Ulcerative colitis		26192919, 26974007, 26398853, 18438406, 19122664, 20228799, 21297633, 19915572, 28067908, 26301688
Uveitis	Anterior uveitis		25200001
Uveomeningoencephalitic syndrome	Uveomeningoencephalitic Syndrome		25108386