IL4 (interleukin 4)

Gene

• Entrez ID: 3565
• Gene name: Interleukin 4
• Gene symbol: IL4
• Synonyms: BCGF-1, BCGF1, BSF-1, BSF1, IL-4
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. In an allergic response, IL-4 has an essential role in the production of allergen-specific immunoglobin (Ig) E. This pro-inflammatory cytokine has been observed to be increased in COVID-19 (Coronavirus disease 2019) patients, but is not necessarily associated with severe COVID-19 pathology. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018167	hsa-miR-335-5p	Microarray	18185580
MIRT732579	hsa-miR-24-3p	Luciferase reporter assay	26834155
MIRT733718	hsa-miR-429	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27895317
MIRT733719	hsa-miR-340-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27895317
MIRT734505	hsa-miR-503-3p	ELISA, qRT-PCR, MTT	26580839

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Activation	7594540
CEBPB	Unknown	15048722
CIITA	Activation	10946277
CIITA	Repression	10946277;17645498
CREBBP	Activation	10946277
GATA3	Unknown	12876556;16498264;22226971
IRF2	Unknown	7930616
JUNB	Activation	21799768
MAF	Activation	11956291
MAF	Unknown	16498264
NFKB1	Unknown	12516545
POU2F1	Repression	11781715
RELA	Unknown	12516545
SATB1	Activation	21799768
SPIC	Activation	16647686
STAT6	Activation	12082548;16647686;20214667
STAT6	Unknown	12605697;12776189;14993689;19419769;20225206
TBX21	Repression	17541280;18504404;19348920
TBX21	Unknown	22521571
YY1	Activation	11687571

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11967989
GO:0001774	Process	Microglial cell activation	IBA	21873635
GO:0002227	Process	Innate immune response in mucosa	IBA	21873635
GO:0002230	Process	Positive regulation of defense response to virus by host	IBA	21873635
GO:0002674	Process	Negative regulation of acute inflammatory response	IBA	21873635
GO:0002677	Process	Negative regulation of chronic inflammatory response	IBA	21873635
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005136	Function	Interleukin-4 receptor binding	TAS	11418631
GO:0005515	Function	Protein binding	IPI	8266078, 10219247, 18243101, 23597562
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	TAS	11418631
GO:0006955	Process	Immune response	TAS	3016727
GO:0008083	Function	Growth factor activity	NAS	11418631
GO:0008203	Process	Cholesterol metabolic process	ISS	11971948
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	31432141
GO:0010628	Process	Positive regulation of gene expression	IGI	12574355
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010633	Process	Negative regulation of epithelial cell migration	IBA	21873635
GO:0010633	Process	Negative regulation of epithelial cell migration	IDA	11698262
GO:0016239	Process	Positive regulation of macroautophagy	IBA	21873635
GO:0016239	Process	Positive regulation of macroautophagy	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030183	Process	B cell differentiation	TAS	11418631
GO:0030335	Process	Positive regulation of cell migration	IGI	31432141
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0031296	Process	B cell costimulation	IBA	21873635
GO:0032720	Process	Negative regulation of tumor necrosis factor production	ISS
GO:0032733	Process	Positive regulation of interleukin-10 production	IBA	21873635
GO:0032733	Process	Positive regulation of interleukin-10 production	IGI	30634164
GO:0032736	Process	Positive regulation of interleukin-13 production	IBA	21873635
GO:0032736	Process	Positive regulation of interleukin-13 production	IDA	19346497
GO:0035745	Process	T-helper 2 cell cytokine production	IBA	21873635
GO:0035745	Process	T-helper 2 cell cytokine production	IDA	20554961
GO:0042092	Process	Type 2 immune response	TAS	11676128
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042110	Process	T cell activation	IGI	18337562
GO:0042116	Process	Macrophage activation	IGI	30634164
GO:0042325	Process	Regulation of phosphorylation	ISS
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IGI	12574355
GO:0042976	Process	Activation of Janus kinase activity	IBA	21873635
GO:0042976	Process	Activation of Janus kinase activity	IGI	12574355
GO:0043011	Process	Myeloid dendritic cell differentiation	IBA	21873635
GO:0043011	Process	Myeloid dendritic cell differentiation	IDA	16116184
GO:0043031	Process	Negative regulation of macrophage activation	IBA	21873635
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043306	Process	Positive regulation of mast cell degranulation	IBA	21873635
GO:0045064	Process	T-helper 2 cell differentiation	IBA	21873635
GO:0045191	Process	Regulation of isotype switching	TAS	11418631
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	IBA	21873635
GO:0045348	Process	Positive regulation of MHC class II biosynthetic process	ISS
GO:0045582	Process	Positive regulation of T cell differentiation	IBA	21873635
GO:0045582	Process	Positive regulation of T cell differentiation	IDA	20554961
GO:0045671	Process	Negative regulation of osteoclast differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	16606666, 18579517
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	18579517, 19346497, 20554961
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IBA	21873635
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	ISS
GO:0048295	Process	Positive regulation of isotype switching to IgE isotypes	IBA	21873635
GO:0048295	Process	Positive regulation of isotype switching to IgE isotypes	ISS
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IBA	21873635
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IGI	30634164
GO:0050776	Process	Regulation of immune response	ISS
GO:0071677	Process	Positive regulation of mononuclear cell migration	IBA	21873635
GO:0097028	Process	Dendritic cell differentiation	IDA	21149635
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IBA	21873635
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24906148
GO:0150076	Process	Neuroinflammatory response	ISS
GO:0150079	Process	Negative regulation of neuroinflammatory response	IC
GO:1900223	Process	Positive regulation of amyloid-beta clearance	IBA	21873635
GO:1900223	Process	Positive regulation of amyloid-beta clearance	ISS
GO:1901741	Process	Positive regulation of myoblast fusion	IBA	21873635
GO:1901857	Process	Positive regulation of cellular respiration	ISS
GO:1903660	Process	Negative regulation of complement-dependent cytotoxicity	IBA	21873635
GO:1903660	Process	Negative regulation of complement-dependent cytotoxicity	IMP	16034134
GO:1903845	Process	Negative regulation of cellular response to transforming growth factor beta stimulus	IDA	11967989
GO:2000320	Process	Negative regulation of T-helper 17 cell differentiation	IBA	21873635
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IBA	21873635
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	16034134
GO:2000424	Process	Positive regulation of eosinophil chemotaxis	IBA	21873635
GO:2001171	Process	Positive regulation of ATP biosynthetic process	ISS
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IBA	21873635

Other IDs

• MIM: 147780
• HGNC: 6014
• e!Ensembl: ENSG00000113520

Protein

• UniProt ID: P05112
• Protein name: Interleukin-4 (IL-4) (B-cell stimulatory factor 1) (BSF-1) (Binetrakin) (Lymphocyte stimulatory factor 1) (Pitrakinra)
• Protein function: Participates in at least several B-cell activation processes as well as of other cell types (PubMed:3016727). It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity). Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (By similarity).
• PDB: 1BBN, 1BCN, 1CYL, 1HIJ, 1HIK, 1HZI, 1IAR, 1ILL, 1ITE, 1ITI, 1ITL, 1ITM, 1RCB, 2B8U, 2B8X, 2B8Y, 2B8Z, 2B90, 2B91, 2CYK, 2D48, 2INT, 3BPL, 3BPN, 3QB7, 4YDY, 5FHX, 6OEL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00727	IL4	26 → 149	Interleukin 4	Domain

• Sequence:

  MGLTSQLLPPLFFLLACAGNFVHGHKCDITLQEIIKTLNSLTEQKTLCTELTVTDIFAAS
  KNTTEKETFCRAATVLRQFYSHHEKDTRCLGATAQQFHRHKQLIRFLKRLDRNLWGLAGL
  NSCPVKEANQSTLENFLERLKTIMREKYSKCSS

• Sequence length: 153

Pathways

KEGG:

Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Fc epsilon RI signaling pathway
Intestinal immune network for IgA production
Leishmaniasis
Pathways in cancer
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Allograft rejection

Reactome:

Interleukin-4 and Interleukin-13 signaling
Interleukin-18 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies, Primary, Cardiomyopathies	rs1800562, rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	7578376
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs-1, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	16360218
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	7871386, 8898950, 19077085
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	12753568, 16091861, 21255481, 18574615, 22528336
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	18357729
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	15322207, 12574379
Psoriasis	Psoriasis	rs-1, rs281875215, rs587777763, rs281875213, rs281875212	19169254
Dermatitis	Dermatitis, Dermatitis, Atopic, Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	31330126, 11886533, 12230500, 18249437, 12484431, 21804303

Unknown
Disease name	Disease term	dbSNP ID	References
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507	24286936
Alveolitis	Alveolitis, Fibrosing		15322207, 12574379
Autoimmune hepatitis	Autoimmune Chronic Hepatitis		21227906
Colitis	Colitis		24314293
Eczema	Eczema, Infantile		18249437, 12230500, 11886533
Lupus erythematosus	Lupus Erythematosus, Systemic		18158872
Malignant mesothelioma	Malignant mesothelioma		25162674
Myocardial diseases	Myocardial Diseases, Secondary		7578376
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		21664615
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		18158872
Palmoplantar pustules	Pustulosis of Palms and Soles		19169254
Pleural diseases	Pleural Diseases		21357438
Rhinitis	Rhinitis		19672097
T-cell lymphoma/leukemia	Adult T-Cell Lymphoma/Leukemia		23962110