CD40 (CD40 molecule)

Gene

• Entrez ID: 958
• Gene name: CD40 molecule
• Gene symbol: CD40
• Synonyms: Bp50, CDW40, TNFRSF5, p50
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immuno

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931586	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774195387	T>C	Pathogenic	Splice donor variant
rs1568905451	TAA>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs1568906348	A>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003393	hsa-miR-224-5p	Microarray, qRT-PCR	19475450
MIRT004620	hsa-miR-486-5p	Microarray, qRT-PCR	19475450
MIRT006789	hsa-miR-503-5p	Luciferase reporter assay	22429276
MIRT736408	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT875349	hsa-miR-103a	CLIP-seq
MIRT875350	hsa-miR-107	CLIP-seq
MIRT875351	hsa-miR-1193	CLIP-seq
MIRT875352	hsa-miR-1243	CLIP-seq
MIRT875353	hsa-miR-15a	CLIP-seq
MIRT875354	hsa-miR-15b	CLIP-seq
MIRT875355	hsa-miR-16	CLIP-seq
MIRT875356	hsa-miR-195	CLIP-seq
MIRT875357	hsa-miR-214	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875361	hsa-miR-3065-3p	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT875364	hsa-miR-3616-5p	CLIP-seq
MIRT875365	hsa-miR-3619-5p	CLIP-seq
MIRT875366	hsa-miR-3647-5p	CLIP-seq
MIRT875367	hsa-miR-424	CLIP-seq
MIRT875368	hsa-miR-4291	CLIP-seq
MIRT875369	hsa-miR-4437	CLIP-seq
MIRT875370	hsa-miR-4674	CLIP-seq
MIRT875371	hsa-miR-4685-5p	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875373	hsa-miR-4795-5p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT875375	hsa-miR-497	CLIP-seq
MIRT875376	hsa-miR-532-5p	CLIP-seq
MIRT875377	hsa-miR-573	CLIP-seq
MIRT875378	hsa-miR-660	CLIP-seq
MIRT875379	hsa-miR-761	CLIP-seq
MIRT875380	hsa-miR-922	CLIP-seq
MIRT2196502	hsa-miR-4514	CLIP-seq
MIRT2196503	hsa-miR-4692	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT2499513	hsa-miR-3176	CLIP-seq
MIRT2499514	hsa-miR-326	CLIP-seq
MIRT2499515	hsa-miR-330-5p	CLIP-seq
MIRT2499516	hsa-miR-3922-3p	CLIP-seq
MIRT2499517	hsa-miR-3926	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT2499518	hsa-miR-548s	CLIP-seq
MIRT875358	hsa-miR-29a	CLIP-seq
MIRT875359	hsa-miR-29b	CLIP-seq
MIRT875360	hsa-miR-29c	CLIP-seq
MIRT875362	hsa-miR-3155	CLIP-seq
MIRT875363	hsa-miR-3155b	CLIP-seq
MIRT2499513	hsa-miR-3176	CLIP-seq
MIRT2499514	hsa-miR-326	CLIP-seq
MIRT2499515	hsa-miR-330-5p	CLIP-seq
MIRT2499516	hsa-miR-3922-3p	CLIP-seq
MIRT2499517	hsa-miR-3926	CLIP-seq
MIRT875372	hsa-miR-4733-3p	CLIP-seq
MIRT875374	hsa-miR-484	CLIP-seq
MIRT2499518	hsa-miR-548s	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Activation	18694960
NFKB1	Activation	19164127;9733827
NFKB1	Unknown	11027342;11313274;17031478
NFKBIA	Repression	9733827
NR3C2	Activation	16179010
RELA	Activation	19164127;9733827
RELA	Unknown	11313274;17031478
RELB	Unknown	11027342
SPI1	Activation	10823830
SPIB	Activation	10823830
STAT1	Activation	10823830;15182726
STAT6	Unknown	11086058
TRAF6	Unknown	16143987
TRERF1	Repression	18652845
XRCC5	Unknown	17031478
XRCC6	Unknown	17031478

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	21410936
GO:0002768	Process	Immune response-regulating cell surface receptor signaling pathway	IBA	21873635
GO:0003823	Function	Antigen binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	7527023, 9468137, 12140561, 20676093, 23334419, 25416956, 25502805, 25910212, 26210919, 31331973, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	10748139
GO:0006874	Process	Cellular calcium ion homeostasis	IMP	21410936
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009986	Component	Cell surface	HDA	23981064
GO:0019899	Function	Enzyme binding	IPI	12223522
GO:0019904	Function	Protein domain specific binding	IEA
GO:0023035	Process	CD40 signaling pathway	IBA	21873635
GO:0023035	Process	CD40 signaling pathway	IDA	31331973
GO:0030168	Process	Platelet activation	NAS	9468137
GO:0030890	Process	Positive regulation of B cell proliferation	IBA	21873635
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	11279055
GO:0032735	Process	Positive regulation of interleukin-12 production	IBA	21873635
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0033590	Process	Response to cobalamin	IEA
GO:0034341	Process	Response to interferon-gamma	IBA	21873635
GO:0035631	Component	CD40 receptor complex	IBA	21873635
GO:0035631	Component	CD40 receptor complex	ISS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	IBA	21873635
GO:0036018	Process	Cellular response to erythropoietin	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042100	Process	B cell proliferation	NAS	8605945
GO:0042113	Process	B cell activation	IBA	21873635
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	21410936
GO:0042832	Process	Defense response to protozoan	IBA	21873635
GO:0043025	Component	Neuronal cell body	IEA
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	12761501
GO:0043196	Component	Varicosity	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043406	Process	Positive regulation of MAP kinase activity	IMP	21410936
GO:0043491	Process	Protein kinase B signaling	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IBA	21873635
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	28566713
GO:0043547	Process	Positive regulation of GTPase activity	IMP	21410936
GO:0045766	Process	Positive regulation of angiogenesis	IBA	21873635
GO:0045766	Process	Positive regulation of angiogenesis	IMP	28566713
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21410936
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IBA	21873635
GO:0050776	Process	Regulation of immune response	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IBA	21873635
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	21410936
GO:0051607	Process	Defense response to virus	IBA	21873635
GO:0065003	Process	Protein-containing complex assembly	TAS	10748139
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071347	Process	Cellular response to interleukin-1	IBA	21873635
GO:0071356	Process	Cellular response to tumor necrosis factor	IBA	21873635
GO:0090037	Process	Positive regulation of protein kinase C signaling	IMP	21410936
GO:1901652	Process	Response to peptide	IEA
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IBA	21873635
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IDA	12885753

Other IDs

• MIM: 109535
• HGNC: 11919
• e!Ensembl: ENSG00000101017

Protein

• UniProt ID: P25942
• Protein name: Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)
• Protein function: Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity). {ECO:0000250|UniProtKB:P27512, ECO:000026
• PDB: 1CZZ, 1D00, 1FLL, 1LB6, 3QD6, 5DMI, 5DMJ, 5IHL, 6FAX, 6PE8, 6PE9, 7P3I, 8YX1, 8YX9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00020	TNFR_c6	62 → 103	TNFR/NGFR cysteine-rich region	Domain

• Sequence:

  MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECL
  PCGESEFLDTWNRETHCHQHKYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCV
  LHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEKCHPWTSCETKDLVVQQAGTN
  KTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNKAPHPKQEPQEINFPD
  DLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ

• Sequence length: 277

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Cell adhesion molecules
Toll-like receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Transcriptional misregulation in cancer
Asthma
Autoimmune thyroid disease
Systemic lupus erythematosus
Allograft rejection
Primary immunodeficiency
Viral myocarditis
Lipid and atherosclerosis

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	21383967
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17043144
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	17043144
Hyper-igm syndrome	Hyper-IgM syndrome type 3	rs104894324, rs104894325, rs104894321, rs104894322, rs104894323, rs104894327, rs387906328, rs387906329, rs104894380, rs2145595063, rs28931586, rs1568906348, rs1568905451, rs193922703, rs786205474, rs1057520542, rs772214871, rs762590894, rs200858797, rs1591744217, rs1227905250, rs769399833, rs886923939
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	29035695
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17043144
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	19525955, 22190364, 24076602, 19525955
Neutropenia	Neutropenia	rs879253882
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	29035695
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	30423114, 18794853, 23143596, 24390342, 24532676, 20453842

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		17043144
Cholangitis	Cholangitis, Sclerosing		26974007
Compensatory hyperinsulinemia	Compensatory Hyperinsulinemia		29035695
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007
Endogenous hyperinsulinism	Endogenous Hyperinsulinism		29035695
Exogenous hyperinsulinism	Exogenous Hyperinsulinism		29035695
Grand mal status epilepticus	Grand Mal Status Epilepticus		18455351
Hyper-igm immunodeficiency syndrome	Hyper-IgM Immunodeficiency Syndrome, Type 2, Hyper-IgM Immunodeficiency Syndrome, Type 3, Hyper-IgM Immunodeficiency Syndrome, Type 5		11675497, 17502893, 26545377
Hyperglycemia	Hyperglycemia		29035695
Hyperimmunoglobulin m syndrome	Hyperimmunoglobulin M syndrome	rs200602841, rs5796316, rs56185014, rs780337127, rs201738977, rs755095913, rs746182207, rs886056721, rs749590513, rs886056719, rs11569300, rs1345004
Immune system diseases	Immune System Diseases		21383967
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Kawasaki disease	Mucocutaneous Lymph Node Syndrome		22446962, 22446961
Lupus erythematosus	Lupus Erythematosus, Systemic		28714469
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		18455351
Petit mal status	Petit mal status		18455351
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		18455351
Ulcerative colitis	Ulcerative Colitis		26974007