IL1A (interleukin 1 alpha)

Gene

• Entrez ID: 3552
• Gene name: Interleukin 1 alpha
• Gene symbol: IL1A
• Synonyms (NCBI Gene): IL-1 alpha, IL-1A, IL1, IL1-ALPHA, IL1F1
• Chromosome: 2
• Chromosome location: 2q14.1
• Summary: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macropha

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004689	hsa-miR-191-5p	Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR	20924108
MIRT004689	hsa-miR-191-5p	Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR	20924108
MIRT017051	hsa-miR-335-5p	Microarray	18185580
MIRT054374	hsa-miR-142-3p	Luciferase reporter assay, Western blot	22870299
MIRT054374	hsa-miR-142-3p	Luciferase reporter assay, Western blot	22870299
MIRT727459	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727458	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727456	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727457	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727455	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727454	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727453	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727451	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727452	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1064196	hsa-miR-1254	CLIP-seq
MIRT1064197	hsa-miR-3116	CLIP-seq
MIRT1064198	hsa-miR-3179	CLIP-seq
MIRT1064199	hsa-miR-3605-5p	CLIP-seq
MIRT1064200	hsa-miR-3936	CLIP-seq
MIRT1064201	hsa-miR-4257	CLIP-seq
MIRT1064202	hsa-miR-545	CLIP-seq
MIRT1064203	hsa-miR-661	CLIP-seq
MIRT2389362	hsa-miR-141	CLIP-seq
MIRT2389363	hsa-miR-200a	CLIP-seq
MIRT2437788	hsa-miR-132	CLIP-seq
MIRT2437789	hsa-miR-212	CLIP-seq
MIRT2437790	hsa-miR-3545-3p	CLIP-seq
MIRT2437791	hsa-miR-4778-3p	CLIP-seq
MIRT2437792	hsa-miR-4802-3p	CLIP-seq
MIRT2451720	hsa-miR-3619-3p	CLIP-seq
MIRT2451721	hsa-miR-4535	CLIP-seq
MIRT2451722	hsa-miR-4776-5p	CLIP-seq
MIRT2451723	hsa-miR-890	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Unknown	8688489
JUN	Unknown	8688489
NFKB1	Repression	17612514
RELA	Repression	17612514

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001660	Process	Fever generation	IEA
GO:0001819	Process	Positive regulation of cytokine production	IDA	1739124
GO:0002248	Process	Connective tissue replacement involved in inflammatory response wound healing	IEA
GO:0005125	Function	Cytokine activity	IMP	2989698
GO:0005149	Function	Interleukin-1 receptor binding	IEA
GO:0005507	Function	Copper ion binding	IDA	12746488
GO:0005515	Function	Protein binding	IPI	12746488, 16971486, 18329368, 25241761, 25416956, 25910212
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	12746488
GO:0005615	Component	Extracellular space	IMP	3493774
GO:0005829	Component	Cytosol	IDA	12746488
GO:0006883	Process	Cellular sodium ion homeostasis	IEA
GO:0006915	Process	Apoptotic process	TAS	1924307
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	3493774
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	ISS
GO:0010628	Process	Positive regulation of gene expression	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IDA	23817958
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IMP	2989698
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	2989698
GO:0032743	Process	Positive regulation of interleukin-2 production	ISS	31172560
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS	31172560
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS	31172560
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	IBA	21873635
GO:0034605	Process	Cellular response to heat	IDA	12746488
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	IMP	2989698
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046688	Process	Response to copper ion	IDA	12746488
GO:0050714	Process	Positive regulation of protein secretion	IMP	9564845
GO:0050999	Process	Regulation of nitric-oxide synthase activity	IBA	21873635
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA	21873635
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS	10748004

Other IDs

• MIM: 147760
• HGNC: 5991
• e!Ensembl: ENSG00000115008

Protein

• UniProt ID: P01583
• Protein name: Interleukin-1 alpha (IL-1 alpha) (Hematopoietin-1)
• Protein function: Cytokine constitutively present intracellularly in nearly all resting non-hematopoietic cells that plays an important role in inflammation and bridges the innate and adaptive immune systems (PubMed:26439902). After binding to its receptor IL1R1
• PDB: 2ILA, 2KKI, 2L5X, 5UC6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02394	IL1_propep	1 → 109	Interleukin-1 propeptide	Family
  PF00340	IL1	155 → 266	Interleukin-1 / 18	Domain

• Sequence:

  MAKVPDMFEDLKNCYSENEEDSSSIDHLSLNQKSFYHVSYGPLHEGCMDQSVSLSISETS
  KTSKLTFKESMVVVATNGKVLKKRRLSLSQSITDDDLEAIANDSEEEIIKPRSAPFSFLS
  NVKYNFMRIIKYEFILNDALNQSIIRANDQYLTAAALHNLDEAVKFDMGAYKSSKDDAKI
  TVILRISKTQLYVTAQDEDQPVLLKEMPEIPKTITGSETNLLFFWETHGTKNYFTSVAHP
  NLFIATKQDYWVCLAGGPPSITDFQILENQA

• Sequence length: 271

Pathways

KEGG:

MAPK signaling pathway
Cytokine-cytokine receptor interaction
Necroptosis
Cellular senescence
Osteoclast differentiation
Hematopoietic cell lineage
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Type I diabetes mellitus
Alzheimer disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pertussis
Leishmaniasis
Tuberculosis
Measles
Influenza A
Inflammatory bowel disease
Rheumatoid arthritis
Graft-versus-host disease
Fluid shear stress and atherosclerosis

Reactome:

Senescence-Associated Secretory Phenotype (SASP)
Interleukin-1 processing
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
Interleukin-1 signaling
Purinergic signaling in leishmaniasis infection

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075	27738319
Cardiomyopathy	Cardiomyopathies, Primary, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, 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	7979221
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	23178550
Hemolytic uremic syndrome	Hemolytic-Uremic Syndrome	rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868, rs886043418, rs1057516191, rs1131690796, rs1553273733, rs1553251787, rs777787526, rs769742294, rs775015499, rs1555599211, rs1558162157, rs1600410451, rs368615806, rs1573026975, rs1573087200, rs1571588257, rs147972030, rs1906529223, rs749415630, rs1573076111, rs1300996807, rs1571616755, rs1571617647, rs1579173999, rs1599510478	15384034
Hereditary leber optic atrophy	Optic Atrophy, Hereditary, Leber	rs199476133, rs199476135, rs199476137, rs199476138, rs207460000, rs199476104, rs199476105, rs199476106, rs199476108, rs199476109, rs267606893, rs267606898, rs267606899, rs1556423844, rs199476112, rs28384199, rs199476118, rs199476122, rs199476123, rs397515506, rs397515507, rs794726857, rs1057516064, rs1553249704, rs1603222000, rs1603223730, rs1603224017, rs1603224029, rs1603221804	7979221
Kearns sayre syndrome	Kearns-Sayre syndrome	rs118203892, rs118203893	7979221
Merrf syndrome	MERRF Syndrome	rs118203886, rs118192098, rs118192099, rs118192100, rs118192104, rs199474659, rs121434470, rs267606898, rs1603225633, rs1603219393	7979221
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454	7979221

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		22990943, 20574126, 26002078, 21722710, 24103372	ClinVar
Progressive external ophthalmoplegia	Chronic progressive external ophthalmoplegia		7979221	ClinVar
Endometriosis	Endometriosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	1616367, 26268530, 37747561
Abortion Habitual	Associate	22505054, 30893922
Achlorhydria	Associate	10746728
Acidosis	Associate	23144702
Acne Vulgaris	Associate	29771405, 32627753
Acquired Immunodeficiency Syndrome	Associate	15327898, 2789293, 3159524
Acro Osteolysis	Associate	2844218
Acute Disease	Stimulate	22674409
Acute Disease	Associate	26559268
Acute Lung Injury	Associate	21126389
Adenocarcinoma	Associate	16884377, 35328735
Adenocarcinoma Mucinous	Inhibit	22282663
Adenocarcinoma Mucinous	Associate	22282663
Adenocarcinoma of Lung	Associate	34475499, 35630550, 36865560, 38111060, 40486872
Adenoma	Associate	12714632
Age Related Hearing Impairment 1	Associate	32252823
Aggressive Periodontitis	Associate	17823082, 18587204, 19671938
Airway Obstruction	Associate	28223794
Allan Herndon Dudley syndrome	Associate	24453029
Allergic Fungal Sinusitis	Associate	22723975
Allergic Fungal Sinusitis	Stimulate	33005006
Alopecia	Associate	30302033
Alopecia Areata	Associate	30302033
Alzheimer Disease	Associate	10037734, 11483667, 15201366, 17149369, 17257626, 18769539, 21070631, 21509504, 21968104, 22879895, 23038715, 24024155, 2529544, 31018751, 31618972, 31861093, 36498925, 7830934, 7904796
Alzheimer Disease	Stimulate	10716257, 24454987, 35689551
Ameloblastoma	Associate	21196890, 29419674
Ameloblastoma	Stimulate	31901915
Amyloidosis	Associate	1616367, 23718630
amyloidosis IX	Stimulate	6332168
Anemia	Associate	1824252
Anemia Hemolytic	Associate	3264697
Anemia Sickle Cell	Associate	22674409, 27883292
Aneurysm	Associate	21620624
Aneurysm Ascending Aorta	Associate	31363123, 37207221
Angina Stable	Associate	28407320
Angioedemas Hereditary	Stimulate	36142237
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	32771066
Antiphospholipid Syndrome	Associate	37914735
Aortic Aneurysm	Associate	24612355
Aortic Aneurysm Abdominal	Associate	17321344, 21620624
Arteriosclerosis	Associate	3491091
Arthritis	Associate	10210770, 10419775, 17179173, 21161742, 24024155, 30299251, 31443670, 9507015
Arthritis Juvenile	Associate	15851489, 17724127, 29928998, 33892792
Arthritis Psoriatic	Associate	10857783, 16918024, 17828345, 7693825
Arthritis Rheumatoid	Associate	10210770, 11083259, 11229456, 1395121, 1427978, 15020327, 15188374, 15248214, 15458956, 15943888, 16947381, 1698773, 17640966, 1901643, 1993047, 2075829, 22040886, 22879895, 2330842, 24397353, 27105431, 30272996, 3091636, 3264697, 3264773, 39342401, 7492245, 7657832, 9525978, 9613344
Arthritis Rheumatoid	Stimulate	15140777, 16901957, 1914237, 22736176, 35164656
Arthritis Rheumatoid	Inhibit	23339928
Asthma	Stimulate	18774390
Asthma	Associate	19439663, 23527710, 28223794, 29103994, 29769273, 30864351, 32457454, 34800561, 35751199
Astrocytoma	Associate	17121800, 1937574
Atherosclerosis	Associate	11353829, 1663075, 19439663, 23874021, 24024155, 24063019, 28323859
Atrial Fibrillation	Associate	19569080
Atrophy	Associate	23995914
Autoimmune Diseases	Associate	11380474, 1427978, 20942939
Autoimmune Diseases	Inhibit	33125159
Axial Spondyloarthritis	Associate	33480001
Bacteremia	Associate	10531276
Barrett Esophagus	Associate	35328735
Behcet Syndrome	Associate	28166214
Bipolar Disorder	Associate	19125864, 28129679
Birdshot Chorioretinopathy	Associate	18941541
Blau syndrome	Associate	17968944
Blister	Associate	27868136, 7817673
Bone Diseases	Associate	12619925, 17129176, 18612013, 19494218, 21196890, 2844218, 8605359
Bone Diseases Metabolic	Associate	12619938
Bone Resorption	Associate	25278075, 27279422, 36614130
Boutonneuse Fever	Associate	36551320
Brain Infarction	Associate	32503645
Breast Neoplasms	Associate	16464738, 16518599, 16684880, 17670913, 19267917, 24670917, 24716804, 26909967, 27853906, 30814616, 31297985, 32098891, 32788048, 33621853, 36766731, 37551997, 38263420, 40429863, 9618523
Bronchiolitis	Stimulate	24750386
Bronchiolitis Obliterans Syndrome	Associate	12930389, 16573548, 25828101
Bronchiolitis Obliterans Syndrome	Stimulate	24750386
Bronchopulmonary Dysplasia	Associate	30969811
Burkitt Lymphoma	Associate	29033373
Cachexia	Associate	33047901
Calcinosis	Associate	19035492
Cancer Pain	Associate	35016421
Carcinogenesis	Associate	16884377, 1730767, 19267917, 20846456, 20863990, 23995914, 24272484, 35395492, 37551997, 9062407
Carcinoma	Inhibit	16412062
Carcinoma Endometrioid	Inhibit	22282663
Carcinoma Endometrioid	Associate	22282663
Carcinoma Hepatocellular	Associate	12651617, 29802240, 37501379
Carcinoma Hepatocellular	Stimulate	35756844
Carcinoma Non Small Cell Lung	Associate	25597281, 35016421, 36833388
Carcinoma Pancreatic Ductal	Stimulate	21847358
Carcinoma Pancreatic Ductal	Associate	23951028, 35395492
Carcinoma Renal Cell	Inhibit	22282663
Carcinoma Renal Cell	Associate	22282663, 23578198, 40612864, 7710946
Carcinoma Small Cell	Stimulate	16412062
Carcinoma Squamous Cell	Associate	20874839, 21146373, 25981582, 27121322, 2844218, 37369480
Carcinoma Squamous Cell	Inhibit	21819702
Cardiomegaly	Associate	19125864
Cardiomyopathies	Associate	36298704
Cardiomyopathy Dilated	Associate	17948066
Cardiovascular Diseases	Associate	19439663, 22879895, 33172487, 37941911
Carotid Artery Diseases	Inhibit	20536609
Carotid Artery Diseases	Associate	20536609
Carotid Stenosis	Associate	21393601, 32927275
Carpal Tunnel Syndrome	Associate	1616367
Cartilage Diseases	Associate	12469908, 15641080, 17179173, 18808736, 20592454, 29996115
Cartilage Diseases	Stimulate	28259981
Castleman Disease	Associate	1954381
Cataract	Associate	1622944
Cataract	Inhibit	37694725
CD59 Deficiency	Associate	36334040
Cerebral Infarction	Associate	17114844, 18336824, 24063019, 29145255, 31183363, 31192907
Cerebral Palsy	Associate	20536609
Cerebrovascular Disorders	Associate	17293495
Chemical and Drug Induced Liver Injury	Associate	30600293
Chlamydophila Infections	Associate	11527622
Cholera	Stimulate	17697117
Cholesteatoma	Associate	33627146
Cholesteatoma Middle Ear	Associate	31947538
Chondrosarcoma	Associate	10765924, 24901233
Chorioamnionitis	Associate	2005113
Chronic Disease	Associate	1824252, 7701874
Chronic Kidney Disease Mineral and Bone Disorder	Associate	27647856, 31015261
Chronic Pain	Associate	27883292
Chronic Periodontitis	Associate	17823082, 22124068, 23592003, 24612355, 24690098, 24843315, 25530681, 25710474, 33854406
Chronic Periodontitis	Stimulate	19671938, 21198766
Chronobiology Disorders	Associate	21839423
Churg Strauss Syndrome	Associate	1605306
Cleft Lip	Associate	31443525
Cognition Disorders	Associate	21968104
Coinfection	Stimulate	30679661
Colitis Ulcerative	Associate	18942751, 25232259, 34717557, 36860851
Colitis Ulcerative	Stimulate	9414973
Colonic Neoplasms	Associate	11355696, 34367132, 36127676
Colorectal Neoplasms	Associate	16158955, 17640979, 22363134, 30593746, 30819119, 34083590, 34930323, 34931923, 35236282, 39892619
Coma	Associate	36551320
Combined Inflammatory and Immunologic Defect	Associate	2103309
Common Variable Immunodeficiency	Associate	19076825
Communicable Diseases	Associate	18587204
Condylomata Acuminata	Stimulate	21050487
Congenital Abnormalities	Associate	20131270
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	21968104
Corneal dystrophy Avellino type	Stimulate	30829721
Corneal Endothelial Cell Loss	Associate	2466402
Coronary Artery Disease	Associate	11527622, 20070880, 24530664, 37304261, 39742022
Coronary Disease	Associate	20070881
Coronary Restenosis	Associate	11514491
COVID 19	Associate	32359396, 33138195, 33530084, 33597532, 33662681, 34931923, 35751199, 36298704, 36685671, 37090709
COVID 19	Stimulate	33041191, 35816430, 36946852
Craniocerebral Trauma	Associate	7830934
Craniopharyngioma	Associate	36389809
Critical Illness	Stimulate	33041191
Crohn Disease	Associate	18942751
Crohn Disease	Stimulate	9414973
Cryopyrin Associated Periodic Syndromes	Associate	15541451, 18668535, 21104172, 21493283, 22230390, 23223423, 23421920, 23442610, 25584041, 25730877, 29638206, 31287007, 33314777
Cryopyrin Associated Periodic Syndromes	Stimulate	31337256
Cystic Fibrosis	Associate	19144271, 19399182, 31118097, 32765492, 35922154
Cystitis Interstitial	Associate	36045687
Cysts	Associate	30012121
Death	Associate	33002623, 37207221
Deficiency of interleukin 1 receptor antagonist	Associate	32819369
Dementia	Associate	15201366, 18631256, 21509504, 21968104
Dengue	Associate	34394108
Dental Caries	Associate	21261944
Depressive Disorder	Inhibit	29103192, 30366016
Depressive Disorder	Associate	31044590
Depressive Disorder Major	Stimulate	21831269
Depressive Disorder Major	Associate	28129679, 34171401
Dermatitis Atopic	Inhibit	22427475
Dermatitis Atopic	Associate	32896640
Dermatomyositis	Inhibit	10693873
Dermatomyositis	Associate	11953983, 17265504, 19035492, 34997119
Diabetes Gestational	Associate	29385062
Diabetes Mellitus	Associate	21205020, 22972474, 26268591, 38408622
Diabetes Mellitus	Stimulate	34283808
Diabetes Mellitus Type 1	Associate	16258158, 26692253, 27706611, 35460250
Diabetes Mellitus Type 2	Associate	18840782, 19542207, 21205020, 26576766, 27649540, 37047308, 39342401
Diabetes Mellitus Type 2	Stimulate	35801423, 37762140
Diabetic Foot	Associate	37380899
Diabetic Nephropathies	Associate	29421772, 29999450, 32733443
Diabetic Retinopathy	Associate	38194422
Diffuse Cerebral Sclerosis of Schilder	Associate	19125864
Diffuse Neurofibrillary Tangles with Calcification	Associate	18186919
Disease	Associate	10531276, 29543397
Disease	Stimulate	40065254
Disseminated Intravascular Coagulation	Associate	3878084, 6332168
Down Syndrome	Associate	21712624, 2529544, 33206953
Drug Eruptions	Stimulate	8912565
Drug Hypersensitivity	Associate	19657353
Drug Hypersensitivity Syndrome	Associate	34789453
Drug Related Side Effects and Adverse Reactions	Associate	2680182, 8422667
Drug Resistant Epilepsy	Associate	29426321
Dry Eye Syndromes	Associate	25817729
Duodenal Ulcer	Associate	14632761
Dupuytren Contracture	Associate	8320323
Dysentery Bacillary	Associate	7622234
Dysgeusia	Associate	40333079
Elbow Injuries	Associate	21161742, 29996115
Endocarditis	Associate	8613372
Endometriosis	Associate	24272484, 24935223, 31248297
Endophthalmitis	Stimulate	30296277
Endotoxemia	Associate	8219190
Enterocolitis Necrotizing	Associate	34269788
Eosinophilia	Associate	37052526
Eosinophilic Esophagitis	Associate	21211656, 28104354
Epidermal Cyst	Associate	7717991
Epilepsy	Associate	29426321, 7931344
Epilepsy Temporal Lobe	Associate	7931344
Epstein Barr Virus Infections	Associate	2172979
Erythema elevatum diutinum	Associate	25748081
Erythema Infectiosum	Associate	17978470
Esophageal Neoplasms	Associate	31102307
Esophageal Squamous Cell Carcinoma	Associate	37998338
Essential Hypertension	Associate	26617860
Euthyroid Sick Syndromes	Associate	24453029
Eye Infections Fungal	Associate	7860769
Fabry Disease	Associate	17353161
Fallopian Tube Diseases	Associate	12496205
Fatigue Syndrome Chronic	Associate	22973830, 26965484, 30929860
Fever	Associate	1510423, 23718630, 36551320, 8605359
Fever	Inhibit	21050487
Fibrosarcoma	Associate	8702551
Fibrosis	Associate	34960806, 35844548, 36647141, 7752582, 8082299
Fragile X Syndrome	Associate	20102735
Gastritis	Associate	20482626, 23995914, 30105789
Gastritis Atrophic	Associate	19030199
Gastroesophageal Reflux	Associate	25910374
Gastrointestinal Diseases	Associate	19322919
Gastrointestinal Diseases	Stimulate	19706801
Glaucoma Open Angle	Associate	17149369, 20565898, 30465622
Glioblastoma	Associate	18819934, 19074142, 24503185, 36272241, 38238463, 7531687, 9613677
Glioma	Associate	24503185, 7521890, 8910439
Gliosis	Associate	2529544
Glomerulonephritis	Associate	9186886, 9263995
Glomerulonephritis IGA	Associate	10916103
Gout	Associate	33902703, 36550178, 38164346
Graft vs Host Disease	Associate	12930389, 17391495
Granuloma	Associate	1531398, 7701874
Granulomatosis with Polyangiitis	Associate	37947315
Graves Disease	Associate	16025481, 17964974, 24446657, 2680182
Graves Disease	Stimulate	36561758
Graves Ophthalmopathy	Associate	23633206, 24446657
Graves Ophthalmopathy	Stimulate	36561758
Guillain Barre Syndrome	Associate	37221406
Hashimoto Disease	Associate	1993363
Hearing Loss Sensorineural	Associate	23718630, 34865658
Heart Diseases	Associate	17948066, 31632400
Heart Failure	Associate	29683921, 31632400
Helicobacter Infections	Associate	11346459, 20574123, 28110439
Hematuria	Associate	10916103
Hemolytic Uremic Syndrome	Associate	1333300
Hemolytic Uremic Syndrome	Stimulate	9767525
Hemophilia A	Associate	21362111
Hepatitis Alcoholic	Stimulate	31494259
Hepatitis Autoimmune	Associate	30600293
Hepatitis B	Associate	24025329
Hepatitis B Chronic	Stimulate	35801423
Hepatitis B Chronic	Associate	8706330
Hepatitis C	Stimulate	30679661
Hereditary Autoinflammatory Diseases	Associate	21493283, 23421920, 24365011, 27388993, 27699261, 29426321, 33314777, 33892792, 35089885, 35658515, 37747561, 39622767
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31959131
Hereditary leiomyomatosis and renal cell cancer	Associate	1632458, 1700619
Herpes Zoster	Associate	27777363
Hidradenitis Suppurativa	Associate	37271319, 38011564
Histiocytoma Benign Fibrous	Associate	9534885
Histiocytosis Langerhans Cell	Associate	10590064
HIV Infections	Associate	15327898
HIV Infections	Stimulate	27065342, 32983090
Hodgkin Disease	Stimulate	1605306
Hodgkin Disease	Associate	26406983, 2801887
HTLV I Infections	Associate	7860769
Hyperaldosteronism	Associate	27777363
Hypercalcemia	Associate	8605359, 9618523
Hyperferritinemia	Associate	30968645
Hyperlipidemias	Inhibit	34794403
Hyperlipoproteinemia Type II	Associate	19701653
Hyperoxia	Stimulate	31411059
Hyperpigmentation	Associate	11723113
Hyperplasia	Associate	27662089
Hypersensitivity Delayed	Associate	1458689, 34789453
Hypertelorism with esophageal abnormality and hypospadias	Stimulate	11098059
Hypertension	Associate	27706611, 30864351
Hypertension Pulmonary	Associate	23153648
hyperzincemia and hypercalprotectinemia	Associate	38259483
Hypothalamic Diseases	Associate	36389809
Hypoxia	Inhibit	1373333
Hypoxia	Associate	31935962, 8901607
Hypoxia Brain	Stimulate	12699414
Idiopathic Pulmonary Fibrosis	Associate	17309781
IgA Vasculitis	Associate	11219391, 12746898, 3100335, 3264773, 40590520, 7556649, 8311538, 9014820, 9041934
Ige Responsiveness Atopic	Associate	36518750
Immunologic Deficiency Syndromes	Associate	6611555
Infections	Stimulate	10768935, 15845479, 1592439, 24618232, 25404022
Infections	Associate	11397809, 11598087, 11918712, 17391495, 19431193, 23251650, 23995914, 25981582, 2961377, 32765492, 39772252, 7867645, 8605359, 8639772
Infectious Mononucleosis	Associate	18024394, 8298133
Inflammation	Associate	10358077, 10429980, 10486325, 10693873, 10705303, 10722586, 10748004, 10961889, 11121136, 11254493, 11274143, 11483667, 11739709, 11880271, 12115185, 12604606, 12676777, 12817761, 12930389, 1381237, 1386877, 1427978, 1458689, 15015934, 15215253, 15248214, 1531398, 15331687, 15851489, 15870720, 15954918, 16124062, 16141526, 1622944, 16464738, 1648981, 16613759, 16918024, 16973626, 1707873, 17114844, 17149369, 17265504, 1730767, 17336710, 17391495, 17541168, 17640979, 17948066, 17954950, 17964974, 17977827, 18178551, 18262644, 18311798, 1834697, 18424438, 1847939, 18612013, 18819934, 18928847, 18942751, 1901643, 19166933, 19197536, 1937574, 19398556, 19399182, 19494218, 19542207, 19648252, 19671938, 19800021, 20113359, 20600450, 20661932, 20846456, 20947516, 21070631, 21081304, 21104172, 21124790, 21161742, 21162099, 21509504, 21620624, 21847358, 21881590, 21954434, 21968104, 22040886, 22124068, 22230390, 22242698, 22272623, 22282663, 22508517, 22633328, 22879895, 23046796, 23076369, 23229544, 23277489, 23350733, 23385138, 23718630, 23927441, 23951028, 23995914, 24024155, 24062309, 24338609, 24446657, 24530664, 24751211, 24843315, 24848801, 24901233, 24935223, 24984264, 25267411, 25534508, 25730877, 25854584, 25981582, 26097611, 26198819, 26231560, 26382585, 26393562, 26468534, 26692253, 26840091, 26916040, 26917217, 27121322, 27394196, 27418555, 27448598, 27488002, 27607236, 27662089, 27775096, 2783369, 2786204, 2787988, 28129679, 28173838, 28181534, 28228280, 28278187, 28323859, 28423679, 28542587, 28546273, 28682145, 28684019, 28794034, 29145255, 29228441, 29408308, 29449647, 29551335, 29703138, 29769161, 29771405, 29894487, 30066828, 30272996, 30291141, 30372888, 30514160, 30536330, 30582668, 30600293, 30829721, 30956980, 30964194, 31129807, 31192907, 31235551, 31442681, 31443525, 31701553, 31703690, 31730277, 31801206, 31861093, 31924810, 31947538, 31973719, 32098891, 32150881, 32182948, 32252823, 32319224, 32380146, 32457454, 32477360, 32513051, 32627753, 32733443, 32829938, 32867704, 33030503, 33144913, 33267794, 33314777, 33480001, 33621853, 33662681, 33801398, 33913531, 33969714, 34025636, 34171401, 34198528, 34269788, 34348529, 34679084, 34834040, 34865658, 34888378, 3491091, 34920656, 34960806, 35103930, 35110359, 35138033, 35164656, 35630550, 35661979, 35690236, 35756844, 35943312, 36115766, 36149218, 36152823, 36234980, 36248906, 36302964, 36311488, 36389809, 36459489, 36466854, 36470525, 36498897, 36625060, 36647141, 36675268, 36982980, 37147350, 37192201, 37430374, 37629159, 37914735, 38164346, 38194422, 38238463, 38259483, 3876934, 3878084, 39394168, 39930365, 40239607, 40403713, 40442743, 40542358, 6759408, 7511604, 7556649, 7861725, 7949170, 8092999, 8098585, 8144653, 8260704, 8276802, 8294399, 8400288, 8556503, 8867766, 8870701, 8901607, 9006319, 9010272, 9092580, 9137107, 9182821, 9406809, 9414973, 9478967, 9507015, 9507205, 9602219, 9613678, 9786937, 9826354, 9883966
Inflammation	Stimulate	11159185, 11920517, 12832416, 12839559, 15196593, 15647189, 16158955, 17129374, 17321344, 17449468, 21261944, 23251650, 24747419, 24877141, 26122165, 29996115, 8077705
Inflammation	Inhibit	25849954, 33125159
Inflammatory Bowel Diseases	Associate	17640979, 32020185, 33037057, 33201212, 34675383, 35212366, 9771403
Inflammatory Bowel Diseases	Stimulate	9414973
Insulinoma	Associate	1592439
Intermittent Claudication	Associate	36277021
Intervertebral Disc Degeneration	Associate	15987475, 16436110, 35578687, 40657044
Intervertebral Disc Degeneration	Stimulate	39287911
Intervertebral disc disease	Associate	28081267, 29028103
Intervertebral Disc Displacement	Associate	25207923
Intestinal Diseases	Associate	23995914
Intestinal Polyposis	Associate	37889976
Intraabdominal Infections	Associate	31480453
Intracranial Aneurysm	Associate	33511216
Invasive Pulmonary Aspergillosis	Associate	24274595
Irritable Bowel Syndrome	Associate	15247174
Ischemia	Stimulate	12699414
Joint Diseases	Associate	15458956
Keloid	Associate	11115149
Keratitis Herpetic	Associate	32867704
Keratitis Ichthyosis Deafness Syndrome	Associate	30150638
Keratoconus	Associate	23592922
Kidney Diseases	Associate	12631337, 32733443, 37947315, 9767525
Kidney Failure Chronic	Associate	12631337, 15954918, 7520955
Kidney Neoplasms	Associate	7710946
Knee Injuries	Associate	21161742, 23216199
Leigh Disease	Associate	35103930
Leiomyoma	Associate	26917217
LEOPARD Syndrome	Associate	17114844
Leprosy	Associate	20640364
Leukemia	Associate	11877295, 1536944, 1648979, 1695108, 1700730, 2046206, 2522658, 2526668, 2887587, 6351073, 7730146
Leukemia Hairy Cell	Associate	2258703
Leukemia Lymphocytic Chronic B Cell	Associate	2044220, 2194588, 2258703, 7629299, 9488616
Leukemia Lymphoma Adult T Cell	Associate	2503474, 2887587, 7662973, 8605359
Leukemia Monocytic Acute	Associate	10765922
Leukemia Myeloid Acute	Associate	10586114, 1373331, 1695108, 1835893, 21520003, 2522658, 2665849, 3261773, 3498521, 36418348, 8805932
Leukemia Myelomonocytic Juvenile	Associate	2679915
Leukemia Plasma Cell	Associate	22508408
Leukemia T Cell	Associate	20377589
Lewy Body Disease	Associate	18186919
Lichen Sclerosus et Atrophicus	Associate	35103930
Liposarcoma	Associate	15161051
Liver Cirrhosis Biliary	Associate	11171832, 13130464, 1395121, 30600293
Liver Diseases	Associate	1772964
Low Back Pain	Associate	16436110
Low Tension Glaucoma	Associate	20565898
Lumbar Stenosis Familial	Associate	36277021
Lung Diseases	Associate	23153648, 29703138
Lung Diseases	Inhibit	36255321
Lung Neoplasms	Associate	19505916, 23149083, 26506473, 35381771, 36149146
Lung Neoplasms	Stimulate	37580655
Lupus Erythematosus Discoid	Associate	30130620
Lupus Erythematosus Systemic	Associate	14672899, 25109676, 2974765
Lupus Erythematosus Systemic	Inhibit	6229371
Lupus Vasculitis Central Nervous System	Associate	40348638
Lymphatic Metastasis	Associate	27866212
Lymphedema	Associate	27460425
Lymphohistiocytosis Hemophagocytic	Associate	21325597, 28413901
Lymphoma	Associate	38489975
Lymphoma Large B Cell Diffuse	Associate	18633131, 27394196
Lymphoma T Cell	Associate	6611555
Lymphoma T Cell Cutaneous	Associate	1728639
Macrophage Activation Syndrome	Associate	30968645
Majeed syndrome	Associate	33314777
Malaria	Associate	1500203, 23144702, 26448013, 29033373
Malignant hyperthermia susceptibility type 1	Associate	36311488
Malnutrition	Associate	36248906
Melanoma	Associate	10414467, 1347555, 1370233, 1372901, 15930731, 21954434, 22850568, 27549123, 32571981, 7823937, 8006453, 8102061, 9013579
Melanoma	Inhibit	11399512, 24463459, 30149677, 9804820
Meniere Disease	Associate	34920656
Meningitis Fungal	Stimulate	36946852
Meningitis Meningococcal	Associate	11598066
Mesothelioma Malignant	Associate	25162674, 25757056
Metabolic Syndrome	Associate	19619703
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	40486872
Mevalonate Kinase Deficiency	Inhibit	34809655
Mixed Tumor Malignant	Associate	15921527
Mouth Diseases	Associate	29018115
Mouth Neoplasms	Associate	26919242
Mucocutaneous Lymph Node Syndrome	Associate	20600450, 33023630, 3491174, 35861833
Multiple Myeloma	Associate	2786435, 9886334
Multiple Sclerosis	Associate	17258784, 18322311, 2458871
Muscle Weakness	Associate	10693873
Muscular Dystrophy Duchenne	Associate	28129679
Mycobacterium Infections Nontuberculous	Inhibit	36255321
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	37250098
Myocardial Infarction	Associate	18336824, 20070880, 20070881, 20619343, 24530664, 27832202
Myositis	Associate	10886238, 36159840
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	20940514
Myotonic Dystrophy	Associate	12631337
Myotonic Dystrophy	Stimulate	33172487
Nasal Polyps	Stimulate	33005006, 36168003
Nasopharyngeal Carcinoma	Associate	22320262, 24952889
Neonatal Systemic lupus erythematosus	Associate	18625627
Neoplasm Invasiveness	Associate	11161396
Neoplasm Metastasis	Inhibit	24463459
Neoplasm Metastasis	Associate	24901233, 33267794, 36036818, 37551997, 9618523
Neoplasm Metastasis	Stimulate	26460957
Neoplasms	Associate	10414467, 11920517, 1372901, 14504049, 15042672, 16158955, 16464738, 17360530, 17465207, 20028769, 20947516, 21146373, 21196890, 21479216, 21847358, 21954434, 23145063, 23900673, 23951028, 24024155, 24062309, 24503185, 24716804, 25817828, 25888634, 26460957, 26506473, 26909967, 26917217, 27121322, 27151689, 27435927, 27473228, 27866212, 2844218, 29527701, 29617184, 29769161, 30364933, 31102307, 31396219, 31510897, 33034643, 33047901, 34071419, 34367132, 3488622, 35110359, 35395492, 35756844, 36036818, 36309209, 36614130, 37250098, 37763742, 37998338, 40528195, 7710946, 7823937, 9062407, 9094987, 9262967, 9298935, 9374368, 9786937
Neoplasms	Stimulate	16101131, 27411053, 33267794, 35334093, 36433652
Neoplasms	Inhibit	40612864
Neoplasms Squamous Cell	Associate	25981582
Nephritis Interstitial	Associate	8258957
Nerve Degeneration	Associate	15201366
Neuralgia Postherpetic	Associate	32840164
Neuroblastoma	Associate	33931964, 9459616
Neurodegenerative Diseases	Associate	9003059
Neuroinflammatory Diseases	Associate	17012236, 38238463
Neuroinflammatory Diseases	Stimulate	24503185
Neurotoxicity Syndromes	Associate	30582668
Neutrophil Immunodeficiency Syndrome	Associate	29103994, 36168003
Neutrophilia Hereditary	Stimulate	24750386
Neutrophilia Hereditary	Associate	29103994, 36168003, 8605359
No Reflow Phenomenon	Associate	29339698
Non alcoholic Fatty Liver Disease	Associate	33144913
Obesity	Associate	19218687, 20825686, 35139823, 36311488, 37047308, 40528195
Obesity	Stimulate	28019133, 34283808
Obesity Morbid	Associate	21394384
Odontogenic Cysts	Associate	27279422
Odontogenic Tumors	Associate	21196890, 24972872, 27279422
Opioid Related Disorders	Inhibit	31687981
Oropharyngeal Neoplasms	Associate	25981582, 27121322, 36426368
Osteoarthritis	Associate	15077300, 15094134, 16141526, 17532232, 1993047, 20131253, 20592454, 23216199, 24767790, 28323859, 29996115
Osteoarthritis Hip	Associate	15077300, 17532232
Osteoarthritis Knee	Associate	12115182, 12801479, 20592454, 23216199, 28964890, 37198429
Osteomyelitis	Associate	18971305, 19821768, 28682145, 32454789
Osteonecrosis	Associate	22975999
Osteoporosis	Associate	20940514
Osteoporosis	Stimulate	22380539
Osteoporotic Fractures	Associate	37933016
Osteoporotic Fractures	Stimulate	40065254
Osteosarcoma	Associate	12930967
Otitis Media	Associate	26496338
Ovarian Diseases	Associate	14504049
Ovarian Neoplasms	Associate	22282663, 24272484
Pain	Stimulate	19180509
Pain	Associate	21161742, 25207923, 27883292, 34283174, 36277021
Paine syndrome	Associate	34283174
Pancreatic Neoplasms	Associate	14679213, 16209712, 16504015, 21847358, 23951028, 27435927, 27473228, 31288851, 35523176
Pancreatitis	Associate	27473228
Papilloma	Associate	24449512, 35334093
Papillomavirus Infections	Associate	25981582, 30364933
Paraneoplastic Syndromes	Inhibit	32771066
Parkinson Disease	Associate	26911448
Parkinson Disease	Inhibit	38485911
pediatric multisystem inflammatory disease COVID 19 related	Stimulate	36148243
Pemphigoid Bullous	Associate	27868136, 31001258, 35140724
Pemphigus	Associate	31001258
Penile Neoplasms	Associate	37763742
Peri Implantitis	Associate	26449434, 35855430
Periapical Diseases	Associate	30012121
Periapical Granuloma	Stimulate	30012121
Periodontal Diseases	Associate	19671938, 24460370, 36429405
Periodontitis	Associate	18723088, 21712624, 22124068, 23046796, 23592003, 23752171, 24690098, 24843315, 26449434, 26576766, 28766990, 29023524, 32618013, 35844512, 35855430, 36429405, 8809309, 9507015
Periodontitis	Stimulate	9010272
Periprosthetic Fractures	Associate	18612013, 29305046, 35306116
Peroxisomal ACYL COA oxidase deficiency	Associate	22508517
Philadelphia Chromosome	Associate	9266952
Plaque Amyloid	Associate	18186919, 7830934
Plaque Atherosclerotic	Associate	8506944
Plasmacytoma	Stimulate	3493322
Pneumonia	Stimulate	11179307
Pneumonia	Associate	20811626
Pneumonia Pneumocystis	Associate	36389809
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Associate	19125864
Polycystic Ovary Syndrome	Stimulate	27908212
Polycystic Ovary Syndrome	Associate	28949260
Polymyositis	Inhibit	10693873
Polymyositis	Associate	11953983, 17265504
Post Acute COVID 19 Syndrome	Associate	35844548, 36637466
Post Infectious Disorders	Associate	28410580
Postoperative Complications	Associate	26231560
Prediabetic State	Associate	37762140
Premature Birth	Stimulate	30596707
Primary Graft Dysfunction	Associate	23710539
Primary Immunodeficiency Diseases	Associate	30115681
Propping Zerres syndrome	Associate	22124068
Prostatic Hyperplasia	Associate	10880394, 15042672
Prostatic Neoplasms	Associate	19099590, 29527701, 31730277
Prostatitis	Associate	10880394, 15042672
Protein Energy Malnutrition	Associate	38017491
Proteinuria	Associate	8258957
Pruritus	Stimulate	38489975
Psoriasis	Associate	18669614, 19166933, 28042206, 28323859, 31286990, 34992498, 38003437
Psoriasis	Stimulate	25330301, 33117362
Pulmonary Arterial Hypertension	Associate	39930365
Pulmonary Disease Chronic Obstructive	Associate	19279357, 27418555, 28223794, 28546273, 30280794, 34348529
Pulmonary Disease Chronic Obstructive	Stimulate	24992168
Pulmonary Embolism	Associate	33969714
Purpura Thrombocytopenic Idiopathic	Associate	20626741, 21591983, 36326455
Pyruvate Carboxylase Deficiency Disease	Associate	35844548
Rectal Neoplasms	Associate	26559268
Recurrent respiratory papillomatosis	Associate	24449512
Renal Insufficiency Chronic	Associate	36860851, 38017491
Respiratory Distress Syndrome	Associate	25849954, 36551320
Respiratory Distress Syndrome	Stimulate	34163488
Respiratory System Abnormalities	Associate	27647856
Retinal Diseases	Associate	29551335
Retinal Dysplasia	Associate	23995914, 30364933
Reye Syndrome	Associate	1847937
Root Resorption	Associate	25865535, 37526277
Sarcoidosis	Stimulate	18654018
Sarcoma	Stimulate	30963193
Schizophrenia	Associate	19125864
Schnitzler Syndrome	Associate	23421920, 35089885, 37063861
Schnitzler Syndrome	Inhibit	33424831
Scleroderma Diffuse	Associate	12528118
Scleroderma Systemic	Associate	11083268, 12528118, 19536281, 22879895, 8082299
Seizures	Associate	29426321
Sepsis	Stimulate	32496420
Sepsis	Associate	36551320
Severe Acute Respiratory Syndrome	Associate	16124062
Severe Acute Respiratory Syndrome	Inhibit	33057072
Severe Combined Immunodeficiency	Associate	2565739
Sexual Dysfunction Physiological	Associate	2789293
Shock Septic	Associate	1500203, 36551320
Signs and Symptoms Digestive	Associate	40590520
Skin Diseases	Associate	16291395, 27388993
Sleep Apnea Obstructive	Associate	19218687, 19581829, 20847078
Sleep Apnea Obstructive	Stimulate	24293770
Spondylarthritis	Associate	16947381
Spondylitis Ankylosing	Associate	15309690, 16361275, 20062062, 28423679, 33480001
Squamous Cell Carcinoma of Head and Neck	Stimulate	17465207, 37391526
Squamous Cell Carcinoma of Head and Neck	Associate	25981582, 26460957, 31548455, 33232279, 35267186, 35334093, 36614130
ST Elevation Myocardial Infarction	Associate	27832202
Status Asthmaticus	Associate	22633328, 23527710, 32457454
Still's Disease Adult Onset	Associate	34127696
Stomach Diseases	Associate	20574123
Stomach Neoplasms	Associate	10746728, 1331059, 20482626, 23323013, 23900673, 23995914, 26632693, 26889982, 27832202, 28110439, 39781526, 9414656, 9422527
Stomach Neoplasms	Stimulate	16101131
Stress Disorders Post Traumatic	Inhibit	30366016
Stroke	Stimulate	23076369
Stroke	Associate	23076369, 32503645
Superinfection	Associate	21419289, 22124068, 24843315
Sveinsson Chorioretinal Atrophy	Associate	37747561
Syndrome	Associate	39290705
Synovial Cyst	Associate	10765925
T cell immunodeficiency primary	Associate	2565739
Thoracic Injuries	Stimulate	26303896
Thyroid Cancer Papillary	Associate	24453029, 35515000
Thyroiditis Autoimmune	Associate	17964974, 32182948
Tinnitus	Associate	32174642
Tn Syndrome	Inhibit	26692253
Tooth Diseases	Associate	32952230
Tooth Resorption	Associate	11518271, 31901915
Tourette Syndrome	Associate	26097611
Toxoplasmosis Ocular	Associate	29426041
Transposition of Great Vessels	Associate	35590253
Triple Negative Breast Neoplasms	Stimulate	37551997
Triple Negative Breast Neoplasms	Associate	38305604, 40528195
Tuberculosis Osteoarticular	Associate	34540202
Tuberculosis Pulmonary	Associate	16840026
Tympanic Membrane Perforation	Associate	26496338
Ulcer	Stimulate	24618232
Ulcer	Associate	34675383
Urinary Bladder Neoplasms	Associate	11161396, 33267794
Uterine Cervical Neoplasms	Associate	23099807, 25925136, 27866212
Uterine Cervical Neoplasms	Stimulate	37580647
Uterine Cervicitis	Associate	8098584
Uveitis	Associate	23124805
Vaginosis Bacterial	Associate	18485781, 26105197
Vaginosis Bacterial	Inhibit	30407498
Varicose Ulcer	Associate	26192232
Vascular Diseases	Associate	2103309, 24063019, 24612355
Vascular System Injuries	Associate	10948142
Vasculitis	Associate	34809655, 3491091, 9186886
Venous Thromboembolism	Associate	37762110
Ventricular Remodeling	Associate	23583823
Virus Diseases	Associate	1592439, 23927441, 28794034
Virus Diseases	Inhibit	32867704
Wiskott Aldrich Syndrome	Associate	2565739
Wounds and Injuries	Associate	8639772
X Linked Combined Immunodeficiency Diseases	Associate	2565739