Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3593 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Interleukin 12B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
IL12B |
SynonymsGene synonyms aliases
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CLMF, CLMF2, IL-12B, IMD28, IMD29, NKSF, NKSF2 |
ChromosomeChromosome number
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5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q33.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008] |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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 |
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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 |
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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 |
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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 |
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GO:2000330 |
Process |
Positive regulation of T-helper 17 cell lineage commitment |
ISS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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. ; Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. |
PDB |
1F42
,
1F45
,
3D85
,
3D87
,
3DUH
,
3HMX
,
3QWR
,
4GRW
,
5MJ3
,
5MJ4
,
5MXA
,
5MZV
,
5NJD
,
6UIB
,
6WDQ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF10420 |
IL12p40_C |
126 → 216 |
Cytokine interleukin-12p40 C-terminus |
Domain |
|
Sequence |
|
Sequence length |
328 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
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, rs-1, 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 |
|
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 |
|
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 |
18588591 |
Immunodeficiency |
IMMUNODEFICIENCY 29 |
rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs-1, 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 |
Myocardial infarction |
Myocardial Infarction |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
|
Pulmonary fibrosis |
Pulmonary Fibrosis |
rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 |
12193738 |
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, rs-1, rs1339631701 |
18176109 |
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, rs-1, 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 |
|
Psoriasis |
Psoriasis |
rs-1, rs281875215, rs587777763, rs281875213, rs281875212 |
25903422, 19169255, 20953190, 19169254 |
Migraine |
Migraine Disorders |
rs794727411 |
|
Vasculitis |
Vasculitis |
rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs-1, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054 |
|
Arthritis |
Arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Crohn disease |
Crohn Disease, Regional enteritis |
rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 |
18438406 |
Alveolitis |
Alveolitis, Fibrosing |
|
12193738 |
Ankylosing spondylitis |
Ankylosing spondylitis |
|
21743469 |
Anorexia |
Anorexia |
|
|
Biliary cirrhosis |
Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis |
|
20639880 |
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, Takayasu arteritis |
|
23830507, 23830516 |
Ulcerative colitis |
Ulcerative Colitis |
|
21297633, 20228799, 18438406 |
|
|
|