CD40 (CD40 molecule)

Gene

• Entrez ID: 958
• Gene name: CD40 molecule
• Gene symbol: CD40
• Synonyms (NCBI Gene): 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

• Tissue specificity: TISSUE SPECIFICITY: B-cells and in primary carcinomas.
• 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 term	Disease name	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases	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, 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
Neutropenia	Neutropenia	rs879253882
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	29035695
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	30423114, 18794853, 23143596, 24390342, 24532676, 20453842

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26974007	ClinVar
Hyperimmunoglobulin m syndrome	Hyperimmunoglobulin M syndrome			ClinVar
Hyper-IgM Syndrome	hyper-IgM syndrome type 3			GenCC
Multiple Sclerosis	Multiple Sclerosis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Neuroticism	Neuroticism			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Crohn Disease	Crohn Disease			GWAS
Schizophrenia	Schizophrenia			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	21114485
Acquired Immunodeficiency Syndrome	Associate	9056740
Acute Coronary Syndrome	Stimulate	14769218
Acute Coronary Syndrome	Associate	20552594, 31183392, 34239024
Adenocarcinoma of Lung	Associate	27063419, 37169657
AIDS Associated Nephropathy	Associate	10090942
Allergic Fungal Sinusitis	Associate	37325657
Alzheimer Disease	Inhibit	20110602
Alzheimer Disease	Stimulate	22801742, 9394977
Alzheimer Disease	Associate	35366391
Aneurysm Ascending Aorta	Associate	37207221
Angina Unstable	Associate	34239024
Anodontia	Associate	11313274
Antiphospholipid Syndrome	Associate	11535526
Aortic Aneurysm Abdominal	Associate	14743151
Arteriosclerosis	Associate	11069068
Arthritis	Associate	10366125
Arthritis Juvenile	Stimulate	32787920
Arthritis Psoriatic	Stimulate	32733468, 35095831
Arthritis Rheumatoid	Associate	10366125, 10700427, 11037875, 15248214, 16177927, 16736517, 17328044, 17845713, 19503088, 19644859, 20634952, 22505696, 23166616, 27813548, 30402903, 31036624, 32723749, 33517445, 33968033, 35777820, 37108746, 37563310, 39321281
Arthritis Rheumatoid	Stimulate	9691097
Ascites	Associate	12911719
Asthma	Associate	18714535, 19159017
Atherosclerosis	Associate	10623647, 11978801, 12386144, 12676820, 14522500, 15315968, 15467191, 23166616, 23561892, 9050882, 9916937
Atrial Fibrillation	Associate	22992131
Atypical Squamous Cells of the Cervix	Associate	37970926
Autism Spectrum Disorder	Stimulate	37108638
Autoimmune Diseases	Associate	12153507, 12855571, 15315968, 17845713, 20634952, 21804190, 23092922, 23613777, 25640675, 26068105, 27813548, 27929668, 30878028, 31365872, 31382872, 31616406, 34149627
Autoimmune Diseases of the Nervous System	Associate	11905840
Behcet Syndrome	Associate	15196263
Berylliosis	Associate	25689051
Bone Diseases	Associate	16736517, 35463641
Bone Marrow Failure Disorders	Associate	17805323
Bowen's Disease	Associate	12089736
Brain Neoplasms	Associate	37586773
Breast Neoplasms	Associate	18086299, 21912605, 23934044, 25992978, 26942414
Breast Neoplasms	Inhibit	31552680
Bronchopulmonary Dysplasia	Associate	33552042
Burkitt Lymphoma	Associate	10640744, 14676197, 17709483, 7595225, 8695856, 9763568
Calcinosis Cutis	Associate	10823420
Carcinogenesis	Associate	32089541
Carcinoid Tumor	Associate	37270937
Carcinoma Basal Cell	Inhibit	12089736
Carcinoma Hepatocellular	Associate	15965645, 38548267
Carcinoma Hepatocellular	Stimulate	23150092
Carcinoma Hepatocellular	Inhibit	29568203
Carcinoma Large Cell	Stimulate	37270937
Carcinoma Non Small Cell Lung	Inhibit	31921114, 40682474
Carcinoma Non Small Cell Lung	Associate	32555523
Carcinoma Ovarian Epithelial	Associate	11950960
Carcinoma Pancreatic Ductal	Stimulate	20976171
Carcinoma Pancreatic Ductal	Associate	23983255, 33180184
Carcinoma Pancreatic Ductal	Inhibit	40003965
Carcinoma Renal Cell	Associate	24801648, 34445576, 36091050
Carcinoma Squamous Cell	Associate	12089736, 26823861, 37691121
Carcinoma Squamous Cell	Stimulate	26823861, 37970926
Cardiovascular Diseases	Associate	17543638, 22505696
Cardiovascular Diseases	Stimulate	27992360
Cartilage Diseases	Associate	16736517
CD59 Deficiency	Associate	18045485
Central Nervous System Diseases	Associate	11839576
Chromosome 8 trisomy	Stimulate	17805323
Chronic Disease	Associate	31382872
Chronic Limb Threatening Ischemia	Stimulate	20816321
Chronic Periodontitis	Associate	32345091
Colitis Ulcerative	Stimulate	19664152, 26706980
Colitis Ulcerative	Inhibit	24347371
Colonic Diseases	Associate	12970138
Colorectal Neoplasms	Associate	29155517, 33180184, 34184409, 34830445
Common Variable Immunodeficiency	Associate	15358621, 19738033, 30464201, 37481011, 9042433, 9246212, 9486401
Constriction Pathologic	Associate	14769218
Coronary Aneurysm	Associate	9285647
Coronary Artery Disease	Associate	20552594, 22645426, 27200368
Coronary Disease	Associate	27461004, 28796044, 37566005
COVID 19	Associate	34538015, 36430533, 37896870
Crohn Disease	Associate	19664152, 20634952, 23950992
Crohn Disease	Stimulate	26706980
Cystic Fibrosis	Associate	12000003
Cytokine Release Syndrome	Associate	18714535
Cytokine Release Syndrome	Stimulate	31382872
Cytomegalovirus Infections	Associate	15521917
Death	Associate	22295117, 24885116, 37207221
Dementia Vascular	Associate	40624693
Dental Plaque	Associate	10623647
Depressive Disorder	Associate	38593939
Dermatitis Atopic	Associate	12230500
Dermatitis Atopic	Stimulate	39196303
Dermatitis Atopic 1	Associate	11028864
Diabetes Gestational	Stimulate	31880859
Diabetes Mellitus	Associate	38030458
Diabetes Mellitus Type 1	Associate	34625948, 37576973
Diabetes Mellitus Type 2	Associate	38030458
Diabetic Retinopathy	Associate	26710229
Disease	Associate	25273097, 9394977
Disease Progression	Associate	37898408
Down Syndrome	Associate	25222269
Drug Related Side Effects and Adverse Reactions	Associate	10891490, 33608377, 8102559
Dysgammaglobulinemia	Associate	19903677
Ectodermal dysplasia hypohidrotic with immune deficiency	Associate	12045264
Encephalitis Viral	Associate	20631174
Endometrial Neoplasms	Associate	35937391, 36805217
Eosinophilia	Associate	12209092
Epidermodysplasia Verruciformis	Associate	35202881
Epstein Barr Virus Infections	Associate	12805559
Epstein Barr Virus Infections	Stimulate	7507299
Erectile Dysfunction	Associate	25343742
Esophageal Neoplasms	Associate	38181044
Esophageal Squamous Cell Carcinoma	Associate	27630283
Fatty Liver	Associate	29985430
Gastrointestinal Stromal Tumors	Associate	32923153
Gaucher Disease	Associate	18446002
Genetic Diseases X Linked	Associate	7681587
Glioblastoma	Associate	30353265
Glomerulosclerosis Focal Segmental	Associate	25273097
Granuloma	Associate	10337027
Granulomatous Disease Chronic	Associate	10337027
Graves Disease	Associate	12028565, 16127217, 17032245, 20634952, 27929668, 30223781, 34149627, 34867801, 9717983
Graves Ophthalmopathy	Stimulate	19117935
Graves Ophthalmopathy	Associate	23092922, 25411513, 25653477, 9792671
Guillain Barre Syndrome	Associate	37221406
Heart Failure	Associate	18086125, 29784904
Hematologic Neoplasms	Associate	24952935, 9305866
Hematuria	Associate	33968033
Hepatitis B	Associate	10468853, 1702326, 36383401
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21912605
Hereditary leiomyomatosis and renal cell cancer	Associate	11023520, 11313274, 11675352, 16412023, 7507299, 7522624, 8701986
Herpes Simplex	Associate	12893749
HIV Infections	Associate	10102646, 11839576, 17918746, 19412542
HIV Infections	Stimulate	14517079, 20847379, 9521075
HIV Infections	Inhibit	31323092
Hodgkin Disease	Associate	11675352, 12689928, 7507299, 7522624, 9746758, 9769119
HTLV II Infections	Associate	7545080
Humoral Hypercalcemia Of Malignancy	Associate	17032245
Huntington Disease	Associate	10090942
Hyper IgM Immunodeficiency Syndrome	Associate	10366125, 11675497, 12893749, 22443339, 30131802, 7523449, 9842907
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	10931152, 11675497, 12893749, 15358621, 16509032, 20702779, 25215306, 37566056, 7518839, 9710455
Hypereosinophilic Syndrome	Associate	37325657
Hyperglycemia	Stimulate	38030458
Hyperhomocysteinemia	Associate	27992360
Hyperlipoproteinemia Type II	Associate	12535822
Hypoadiponectinemia	Associate	18349065
Hypoglycemia	Stimulate	20587725
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	38233947
Hypoxia	Associate	22295117
Idiopathic Noncirrhotic Portal Hypertension	Associate	21932384
IgA Deficiency	Associate	19738033, 9649225
IgA Vasculitis	Associate	11905840
IgA Vasculitis	Stimulate	32733468
IgG Deficiency	Associate	19903677
Immune System Diseases	Associate	10102646, 15358621, 21976957
Immunoglobulin G4 Related Disease	Inhibit	22824292, 24887143
Immunoglobulin Light chain Amyloidosis	Associate	7524765
Immunologic Deficiency Syndromes	Associate	11675497, 31365872
Immunologic Deficiency Syndromes	Inhibit	20702779
Infections	Stimulate	10559341, 23150092, 32089541
Infections	Associate	7545080
Inferior Wall Myocardial Infarction	Associate	23561892
Inflammation	Associate	11493450, 11813166, 11905840, 11978801, 12122011, 12209092, 12637493, 12676820, 14978128, 15248214, 15315968, 15467191, 17845713, 18086125, 18714535, 20587725, 23049851, 23166616, 24358353, 24801648, 24903614, 25098443, 25222269, 25411513, 25501066, 27412561, 27461004, 27992360, 28904313, 30713533, 31183392, 31382872, 31880859, 32141817, 33021986, 33381228, 33968033, 35549587, 37047601, 37108638, 37325657, 37566005, 38030458
Inflammation	Stimulate	24916404, 35095831, 7540655
Inflammation	Inhibit	31316519
Inflammatory Bowel Diseases	Associate	12970136, 20634952, 21903765, 26706980, 33570153, 37563310
Intracranial Aneurysm	Associate	29115560
Ischemic Attack Transient	Associate	22505696
Jaundice Obstructive	Associate	27252406
Job Syndrome	Associate	20702779, 25511220
Kidney Failure Chronic	Stimulate	27630283
Kidney Failure Chronic	Associate	30499177
Kidney Neoplasms	Associate	34445576
Leprosy	Associate	10903757
Leukemia	Associate	15161673, 15536147, 1702326, 17378240, 17891925, 21552520, 29805109, 7540066, 7573367, 8652829
Leukemia B Cell	Associate	9163608
Leukemia Hairy Cell	Associate	1702326, 7524766
Leukemia Large Granular Lymphocytic	Associate	10887130
Leukemia Lymphocytic Chronic B Cell	Associate	10068672, 10812244, 11313271, 12010811, 14520439, 15161673, 15454480, 15521917, 15914559, 16113842, 16741250, 1702326, 17038534, 18426971, 18497318, 18796631, 19657365, 20882050, 21745159, 22505652, 23696891, 26158513, 26265439, 26313915, 33171493, 37100883, 37439352, 7530690, 8228801, 8555496, 8562926, 8977261, 9201312, 9486984, 9680368
Leukemia Monocytic Acute	Associate	27992360
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12902478, 18796631
Leukemia Myeloid Acute	Associate	10706072, 11823047, 14662338, 18492117, 25795133, 9485189
Leukemia Myelomonocytic Acute	Associate	11703324
Leukemia Prolymphocytic T Cell	Associate	19183192, 24245956, 29665227, 7503945, 9163608, 9201312, 9450802
Leukemia T Cell	Associate	10210778
Lichen Planus	Associate	28904313
Light Fixation Seizure Syndrome	Associate	20702779
Liver Cirrhosis Biliary	Associate	19644859, 26388238
Liver Cirrhosis Biliary	Inhibit	36825008
Liver Diseases	Associate	12686591
Liver Failure	Associate	34551597
Lung Neoplasms	Associate	10823420, 19448410, 26823861, 27063419, 40349025
Lung Neoplasms	Inhibit	31552680
Lupus Erythematosus Systemic	Associate	10510335, 19180486, 22952582, 26474561, 27699274, 31616406, 31642196, 32576231, 33407802, 33968033, 34952359, 36165173, 37400575
Lupus Erythematosus Systemic	Inhibit	11315925, 39684227
Lupus Erythematosus Systemic	Stimulate	16221206, 20478074, 36180106, 39711368
Lupus Nephritis	Associate	18285351
Lymphatic Metastasis	Associate	19865524, 21912605, 24885116, 27630283
Lymphedema	Associate	7524765
Lymphoma	Associate	10444164, 11825564, 12153507, 1702326, 17567982, 18287517, 20211016, 20473910, 20979617, 24919462, 31365872, 37809067, 9163608, 9858217
Lymphoma AIDS Related	Associate	39324141, 9056740
Lymphoma B Cell	Associate	10540330, 11825564, 14511234, 15078922, 17567982, 23072591, 24919462, 28732145, 31254446, 7507299, 8956976, 9163608, 9792321
Lymphoma B Cell Marginal Zone	Associate	15914563, 22110251, 9137085, 9767448
Lymphoma Follicular	Associate	10444164, 10812244, 18287517, 18606651, 20473910, 7545296, 9414291, 9858217
Lymphoma Follicular	Stimulate	12028024
Lymphoma Large B Cell Diffuse	Associate	16177927, 20473910, 24919462
Lymphoma Mantle Cell	Associate	23640973, 9792311
Lymphoma Non Hodgkin	Associate	11825564, 1702326, 17456057, 20473910, 20702779, 37809067, 9056740, 9163608, 9305866, 9683298
Lymphoma T Cell	Associate	12805559, 9767448
Lymphoma T Cell Cutaneous	Associate	11929784, 35787399
Lymphoproliferative Disorders	Associate	16177927
Melanoma	Associate	25252722, 28427434, 8952530
Melanoma Cutaneous Malignant	Associate	8952530
Metabolic Syndrome	Associate	18349065
Miller McKusick Malvaux Syndrome (3M Syndrome)	Associate	22443339, 25511220
Mitral Valve Stenosis	Associate	22992131
Mobility Limitation	Associate	27745838, 35513612, 36011296
Monoclonal Gammopathy of Undetermined Significance	Associate	7524765
Mucocutaneous Lymph Node Syndrome	Associate	22645426
Multiple Myeloma	Associate	10848782, 11495701, 11830495, 11882358, 12139739, 12358903, 17692804, 17692805, 20574050, 21248470, 25341809, 32840410, 7522634, 7524765, 9305866
Multiple Myeloma	Inhibit	12070032
Multiple Myeloma	Stimulate	12433678
Multiple Sclerosis	Associate	11839576, 12153507, 15544628, 20634952, 23613777, 26068105, 29361022, 31039804, 32111053, 36282535, 36451826, 37563310
Multiple Sclerosis	Inhibit	40462656
Multiple Sclerosis Chronic Progressive	Associate	39613182
Multiple Sclerosis Relapsing Remitting	Inhibit	35416319, 40462656
Muscle Weakness	Associate	32343055
Muscular Dystrophy Duchenne	Associate	27745838, 32343055, 36011296
Myelodysplastic Syndromes	Associate	17805323
Myocarditis	Associate	35549587
Myositis	Associate	33968033
Nasal Polyps	Associate	8601642
Necrosis	Inhibit	12905492
Neoplasm Metastasis	Stimulate	10823420
Neoplasms	Associate	10068672, 10602012, 10823420, 10891490, 11371607, 11495701, 11882358, 11950960, 12637493, 12805559, 12855571, 14557622, 14581487, 15536147, 16260598, 17565609, 17709483, 18086299, 18253927, 18694960, 19865524, 20211016, 20979617, 21400024, 21912605, 21943054, 22010829, 22505652, 22692727, 24741998, 2475341, 24801648, 24924152, 25992978, 26313915, 26823861, 26986513, 27630283, 28427434, 28619093, 28732145, 31355777, 31941968, 32117584, 32166404, 33608377, 33728464, 34177901, 34184409, 35851310, 36894898, 37332119, 37365284, 38181044, 38548267, 39218714, 7573360, 8524818, 8623911, 8704200, 9163608, 9305866, 9485189, 9767448
Neoplasms Glandular and Epithelial	Associate	2475341
Nephritis Interstitial	Associate	18285351
Netherton Syndrome	Associate	7742541
Neuroblastoma	Associate	12771917
Neuroinflammatory Diseases	Associate	17918746, 20631174, 40624693
Neurologic Manifestations	Associate	23561892
Obesity	Inhibit	29035695, 29784904
Obesity	Stimulate	30388921
Obesity	Associate	35219585
Opportunistic Infections	Associate	12893749
Osteoarthritis	Associate	33953899
Osteoarthritis Knee	Associate	28320398
Ovarian Neoplasms	Associate	11950960, 14715418, 17565609, 22406982, 32977853, 36894898
Pancreatic Neoplasms	Inhibit	34933280
Pancreatic Neoplasms	Associate	36894898
Pancreatitis	Associate	33180184
Pancreatitis	Inhibit	40003965
Paracoccidioidomycosis	Associate	31572394
Paraproteinemias	Associate	7524765
Pdgfra Associated Chronic Eosinophilic Leukemia	Stimulate	37325657
Peritonitis	Associate	2475341
Plaque Atherosclerotic	Associate	10623647, 23561892, 26710229, 9050882, 9916937
Polyps	Associate	8601642
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	11876766
Pouchitis	Associate	16149136
Pre Eclampsia	Associate	19221099
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	18552209
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	1702326, 17376892, 17378240, 18552209, 19109206, 8652829
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	11703324, 12648070
Preeclamptic toxemia	Stimulate	19221099
Primary Immunodeficiency Diseases	Associate	30131802
Proteinuria	Associate	25273097
Pulmonary Disease Chronic Obstructive	Associate	36051533
Pulmonary Edema	Associate	32414377
Purpura Thrombocytopenic Idiopathic	Associate	17654056, 25232056
Pyoderma Gangrenosum	Associate	24903614, 25501066, 28518224
Recombinant chromosome 8 syndrome	Associate	18824584
Recurrent respiratory papillomatosis	Associate	27821867
Renal Insufficiency	Associate	17805323
Renal Insufficiency	Stimulate	38581334
Renal Insufficiency Chronic	Associate	27992360, 31642196
Reproductive Tract Infections	Associate	33875006
Respiratory Distress Syndrome	Stimulate	33021986
Sarcoidosis	Stimulate	34534436
Sarcoma Kaposi	Associate	10439837, 8623911
Scabies	Stimulate	9394977
Scleroderma Systemic	Associate	22231486
Sialadenitis	Associate	10340964
Signs and Symptoms	Associate	36929768
Sjogren's Syndrome	Associate	10340964, 12472667, 15692983, 34295332
Sjogren's Syndrome	Stimulate	11876766, 32843324
Small Cell Lung Carcinoma	Associate	27063419
Spondylarthropathies	Stimulate	16149136
Squamous Cell Carcinoma of Head and Neck	Associate	32548602
Squamous Intraepithelial Lesions	Associate	37691121
Status Asthmaticus	Associate	12209092
Stomach Neoplasms	Associate	19865524, 24885116, 35851310, 36600602
Stomach Neoplasms	Inhibit	22526791
Stroke	Associate	22505696, 36253349
Synovial Cyst	Associate	10513808, 15248214, 16736517
talaromycosis	Associate	31572394
Tertiary Lymphoid Structures	Associate	39464888
Thrombosis	Associate	11493450, 12676820, 18086125, 22992131, 26719354
Thyroiditis Autoimmune	Associate	11675676, 27860532
Triple Negative Breast Neoplasms	Associate	36161312
Tuberculosis	Stimulate	35463641
Tuberculosis Meningeal	Stimulate	37480005
Tuberculosis Spinal	Associate	35463641
Urinary Bladder Neoplasms	Associate	12592374, 14676197, 8524818
Uterine Cervical Neoplasms	Associate	32089541, 37970926
Uveitis	Associate	15196263
Vaginosis Bacterial	Associate	17652029
Vascular Diseases	Associate	38030458
Vascular System Injuries	Associate	10623647
Vitamin D Deficiency	Associate	32111053
Weight Loss	Associate	30089130