IL12B (interleukin 12B)

Gene

• Entrez ID: 3593
• Gene name: Interleukin 12B
• Gene symbol: IL12B
• Synonyms: CLMF, CLMF2, IL-12B, IMD28, IMD29, NKSF, NKSF2
• Chromosome: 5
• Chromosome location: 5q33.3
• Summary: This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encode

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT715156	hsa-miR-3614-3p	HITS-CLIP	19536157
MIRT715155	hsa-miR-4705	HITS-CLIP	19536157
MIRT715154	hsa-miR-103b	HITS-CLIP	19536157
MIRT715153	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT715152	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT715151	hsa-miR-4284	HITS-CLIP	19536157
MIRT734760	hsa-miR-34a-3p	Microarray, qRT-PCR	33713393
MIRT715156	hsa-miR-3614-3p	HITS-CLIP	19536157
MIRT715155	hsa-miR-4705	HITS-CLIP	19536157
MIRT715154	hsa-miR-103b	HITS-CLIP	19536157
MIRT715153	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT715152	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT715151	hsa-miR-4284	HITS-CLIP	19536157
MIRT1063608	hsa-miR-1207-3p	CLIP-seq
MIRT1063609	hsa-miR-3649	CLIP-seq
MIRT1063610	hsa-miR-3675-3p	CLIP-seq
MIRT1063611	hsa-miR-4716-5p	CLIP-seq
MIRT1063612	hsa-miR-587	CLIP-seq
MIRT2015022	hsa-miR-129-5p	CLIP-seq
MIRT2015023	hsa-miR-1915	CLIP-seq
MIRT2015024	hsa-miR-193a-5p	CLIP-seq
MIRT2015025	hsa-miR-3674	CLIP-seq
MIRT2015026	hsa-miR-4307	CLIP-seq
MIRT2015027	hsa-miR-4436b-5p	CLIP-seq
MIRT2015028	hsa-miR-4720-3p	CLIP-seq
MIRT2015029	hsa-miR-4726-3p	CLIP-seq
MIRT2015030	hsa-miR-4732-5p	CLIP-seq
MIRT2015031	hsa-miR-4804-3p	CLIP-seq
MIRT2015032	hsa-miR-483-5p	CLIP-seq
MIRT2015033	hsa-miR-889	CLIP-seq
MIRT2247354	hsa-miR-1200	CLIP-seq
MIRT2247355	hsa-miR-1343	CLIP-seq
MIRT2247356	hsa-miR-141	CLIP-seq
MIRT2247357	hsa-miR-192	CLIP-seq
MIRT2247358	hsa-miR-200a	CLIP-seq
MIRT2247359	hsa-miR-215	CLIP-seq
MIRT2247360	hsa-miR-219-5p	CLIP-seq
MIRT2247361	hsa-miR-335	CLIP-seq
MIRT2247362	hsa-miR-378g	CLIP-seq
MIRT2247363	hsa-miR-4437	CLIP-seq
MIRT2247364	hsa-miR-4445	CLIP-seq
MIRT2247365	hsa-miR-4674	CLIP-seq
MIRT2247366	hsa-miR-4774-5p	CLIP-seq
MIRT2247367	hsa-miR-4782-3p	CLIP-seq
MIRT2247368	hsa-miR-508-3p	CLIP-seq
MIRT2247369	hsa-miR-548a-3p	CLIP-seq
MIRT2247370	hsa-miR-548e	CLIP-seq
MIRT2247371	hsa-miR-548f	CLIP-seq
MIRT2451701	hsa-miR-1182	CLIP-seq
MIRT2451702	hsa-miR-4778-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Activation	15482860
ETS2	Unknown	10657616
IRF1	Unknown	10657616
JUN	Activation	14688340
KLF1	Unknown	14976188
NFKB1	Activation	14688340;18690006
NFKB1	Unknown	10657616
REL	Unknown	10657616
RELA	Activation	14688340;18690006
RELA	Unknown	10657616;15270850
SPI1	Unknown	11254706
VDR	Repression	21310195

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	TAS	1673147
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:0002323	Process	Natural killer cell activation involved in immune response	IEA
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:0002860	Process	Positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	IDA	7903063
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0005125	Function	Cytokine activity	IDA	1674604
GO:0005143	Function	Interleukin-12 receptor binding	TAS	1674604
GO:0005143	Function	Interleukin-12 receptor binding	TAS	9603733
GO:0005515	Function	Protein binding	IPI	7527811, 10899108, 11023671, 11114383, 12023369, 18680750, 29997244
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	1673147
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0007050	Process	Cell cycle arrest	IDA	16942485
GO:0008083	Function	Growth factor activity	IDA	1674604
GO:0008283	Process	Cell population proliferation	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0010224	Process	Response to UV-B	IDA	8992506
GO:0010536	Process	Positive regulation of activation of Janus kinase activity	IDA	12023369
GO:0016477	Process	Cell migration	IDA	7903063
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019953	Process	Sexual reproduction	TAS	16772281
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0030101	Process	Natural killer cell activation	IDA	1673147
GO:0031906	Component	Late endosome lumen	TAS
GO:0032609	Process	Interferon-gamma production	TAS	1673147
GO:0032693	Process	Negative regulation of interleukin-10 production	IMP	16751425
GO:0032700	Process	Negative regulation of interleukin-17 production	IDA	16482511
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IDA	20027291
GO:0032729	Process	Positive regulation of interferon-gamma production	IDA	1674604, 11114383, 19088061, 20027291
GO:0032729	Process	Positive regulation of interferon-gamma production	TAS	1673147
GO:0032733	Process	Positive regulation of interleukin-10 production	IDA	15265908
GO:0032733	Process	Positive regulation of interleukin-10 production	TAS	18675459
GO:0032735	Process	Positive regulation of interleukin-12 production	IDA	20027291
GO:0032740	Process	Positive regulation of interleukin-17 production	IDA	16482511, 16751425, 17888176
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	16751425
GO:0032816	Process	Positive regulation of natural killer cell activation	IC	20027291
GO:0032816	Process	Positive regulation of natural killer cell activation	IDA	1674604
GO:0032819	Process	Positive regulation of natural killer cell proliferation	IDA	19088061
GO:0032946	Process	Positive regulation of mononuclear cell proliferation	IMP	11023671
GO:0034105	Process	Positive regulation of tissue remodeling	IC	16482511
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	IDA	16942485
GO:0035722	Process	Interleukin-12-mediated signaling pathway	TAS
GO:0038155	Process	Interleukin-23-mediated signaling pathway	TAS
GO:0042088	Process	T-helper 1 type immune response	TAS	1673147
GO:0042093	Process	T-helper cell differentiation	IDA	1673147
GO:0042102	Process	Positive regulation of T cell proliferation	IDA	12023369
GO:0042104	Process	Positive regulation of activated T cell proliferation	IDA	1674604, 11114383
GO:0042164	Function	Interleukin-12 alpha subunit binding	IBA	21873635
GO:0042164	Function	Interleukin-12 alpha subunit binding	IPI	11023671
GO:0042509	Process	Regulation of tyrosine phosphorylation of STAT protein	IDA	12023369
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IDA	12023369
GO:0042802	Function	Identical protein binding	IPI	7527811
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043382	Process	Positive regulation of memory T cell differentiation	ISS
GO:0043514	Component	Interleukin-12 complex	IBA	21873635
GO:0043514	Component	Interleukin-12 complex	IDA	1674604, 11114383
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045519	Function	Interleukin-23 receptor binding	IDA	11114383
GO:0045672	Process	Positive regulation of osteoclast differentiation	IDA	17888176
GO:0045785	Process	Positive regulation of cell adhesion	IDA	7903063
GO:0046982	Function	Protein heterodimerization activity	IPI	1674604, 11023671
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IDA	16942485
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IDA	1674604
GO:0050709	Process	Negative regulation of protein secretion	IGI	30106099
GO:0050729	Process	Positive regulation of inflammatory response	IC	16482511
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	15114670, 20027291
GO:0051135	Process	Positive regulation of NK T cell activation	IC	20027291
GO:0051135	Process	Positive regulation of NK T cell activation	IDA	19088061
GO:0051142	Process	Positive regulation of NK T cell proliferation	IDA	19088061
GO:0051607	Process	Defense response to virus	IEA
GO:0070743	Component	Interleukin-23 complex	IBA	21873635
GO:0070743	Component	Interleukin-23 complex	IDA	11114383
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IGI	30106099
GO:1901224	Process	Positive regulation of NIK/NF-kappaB signaling	TAS	20428758
GO:1903588	Process	Negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IGI	30106099
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: 161561
• HGNC: 5970
• e!Ensembl: ENSG00000113302

Protein

• UniProt ID: P29460
• Protein name: Interleukin-12 subunit beta (IL-12B) (Cytotoxic lymphocyte maturation factor 40 kDa subunit) (CLMF p40) (IL-12 subunit p40) (NK cell stimulatory factor chain 2) (NKSF2)
• Protein function: Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. ; Assoc
• PDB: 1F42, 1F45, 3D85, 3D87, 3DUH, 3HMX, 3QWR, 4GRW, 5MJ3, 5MJ4, 5MXA, 5MZV, 5NJD, 6UIB, 6WDQ, 8CR8, 8OE4, 8XRP, 8YI7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10420	IL12p40_C	126 → 216	Cytokine interleukin-12p40 C-terminus	Domain

• Sequence:

  MCHQQLVISWFSLVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTPEEDGITW
  TLDQSSEVLGSGKTLTIQVKEFGDAGQYTCHKGGEVLSHSLLLLHKKEDGIWSTDILKDQ
  KEPKNKTFLRCEAKNYSGRFTCWWLTTISTDLTFSVKSSRGSSDPQGVTCGAATLSAERV
  RGDNKEYEYSVECQEDSACPAAEESLPIEVMVDAVHKLKYENYTSSFFIRDIIKPDPPKN
  LQLKPLKNSRQVEVSWEYPDTWSTPHSYFSLTFCVQVQGKSKREKKDRVFTDKTSATVIC
  RKNASISVRAQDRYYSSSWSEWASVPCS

• Sequence length: 328

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Toll-like receptor signaling pathway
RIG-I-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Alcoholic liver disease
Type I diabetes mellitus
Pertussis
Legionellosis
Leishmaniasis
Chagas disease
African trypanosomiasis
Toxoplasmosis
Amoebiasis
Tuberculosis
Measles
Influenza A
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Proteoglycans in cancer
Inflammatory bowel disease
Allograft rejection
Lipid and atherosclerosis

Reactome:

Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
Interleukin-12 signaling
Interleukin-23 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	18176109
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Immunodeficiency	IMMUNODEFICIENCY 29	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	24127073
Migraine	Migraine Disorders	rs794727411
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25903422, 19169255, 20953190, 19169254
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	12193738
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18588591
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
Alveolitis	Alveolitis, Fibrosing		12193738
Ankylosing spondylitis	Ankylosing spondylitis		21743469
Anorexia	Anorexia
Biliary cirrhosis	Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis		20639880
Crohn disease	Crohn Disease, Regional enteritis	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	18438406
Crohn`s disease of large bowel	Crohn`s disease of large bowel		18438406
Crohn`s disease of the ileum	Crohn`s disease of the ileum		18438406
Gangrene	Gangrene
Ileocolitis	IIeocolitis		18438406
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye
Liver neoplasms	Liver neoplasms		17326190
Liver cancer	Malignant neoplasm of liver		17326190
Lupus erythematosus	Lupus Erythematosus, Systemic		26808113, 19838195
Malignant mesothelioma	Malignant mesothelioma		25162674
Miscarriage	Miscarriage		18539642
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		19838195, 26808113
Palmoplantar pustules	Pustulosis of Palms and Soles		20953190, 19169255, 19169254
Psoriatic arthritis	Arthritis, Psoriatic		20953186
Retinal diseases	Retinal Diseases
Biliary cholangitis	Secondary Biliary Cholangitis		20639880
Speech disorders	Speech Disorders
Takayasu arteritis	Takayasu Arteritis		23830507, 23830516
Ulcerative colitis	Ulcerative Colitis		21297633, 20228799, 18438406