ADRB2 (adrenoceptor beta 2)

Gene

• Entrez ID: 154
• Gene name: Adrenoceptor beta 2
• Gene symbol: ADRB2
• Synonyms (NCBI Gene): ADRB2R, ADRBR, ARB2, B2AR, BAR, BETA2AR
• Chromosome: 5
• Chromosome location: 5q32
• Summary: This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel compl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1042713	G>A,C	Risk-factor, benign, drug-response	Coding sequence variant, missense variant
rs1800888	C>T	Drug-response	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734423	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33920233
MIRT1921855	hsa-miR-127-5p	CLIP-seq
MIRT1921856	hsa-miR-4268	CLIP-seq
MIRT1921857	hsa-miR-4448	CLIP-seq
MIRT1921858	hsa-miR-4762-5p	CLIP-seq
MIRT1921859	hsa-miR-570	CLIP-seq
MIRT1921860	hsa-miR-605	CLIP-seq
MIRT2168031	hsa-miR-3117-3p	CLIP-seq
MIRT2168032	hsa-miR-3169	CLIP-seq
MIRT2168033	hsa-miR-320a	CLIP-seq
MIRT2168034	hsa-miR-320b	CLIP-seq
MIRT2168035	hsa-miR-320c	CLIP-seq
MIRT2168036	hsa-miR-320d	CLIP-seq
MIRT2168037	hsa-miR-3909	CLIP-seq
MIRT2168038	hsa-miR-4429	CLIP-seq
MIRT2168039	hsa-miR-4759	CLIP-seq
MIRT2168040	hsa-miR-4771	CLIP-seq
MIRT2168041	hsa-miR-510	CLIP-seq
MIRT2383978	hsa-miR-27a	CLIP-seq
MIRT2383979	hsa-miR-27b	CLIP-seq
MIRT2383980	hsa-miR-4716-5p	CLIP-seq
MIRT2383981	hsa-miR-4766-5p	CLIP-seq
MIRT2383982	hsa-miR-488	CLIP-seq
MIRT2383983	hsa-miR-513a-5p	CLIP-seq
MIRT2383984	hsa-miR-556-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	17996646

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IDA	20395454
GO:0002024	Process	Diet induced thermogenesis	IEA
GO:0002025	Process	Norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure	IBA	21873635
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0002032	Process	Desensitization of G protein-coupled receptor signaling pathway by arrestin	IDA	15123695
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004941	Function	Beta2-adrenergic receptor activity	IBA	21873635
GO:0004941	Function	Beta2-adrenergic receptor activity	IDA	15123695, 19710023
GO:0004941	Function	Beta2-adrenergic receptor activity	NAS	20395454
GO:0005515	Function	Protein binding	IPI	9560162, 9671706, 15123695, 15518545, 17148612, 17170700, 19424180, 19584355, 20353789, 20590567, 20733053, 23208550, 23236378, 23291003, 24405750, 28298427, 30157263, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005764	Component	Lysosome	TAS	9507004
GO:0005768	Component	Endosome	TAS	10734107
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	27481942
GO:0005886	Component	Plasma membrane	IDA	9235896, 27481942
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	12297500, 19710023
GO:0006898	Process	Receptor-mediated endocytosis	IDA	15123695
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	1371121
GO:0007171	Process	Activation of transmembrane receptor protein tyrosine kinase activity	TAS	10734107
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	2823249
GO:0007190	Process	Activation of adenylate cyclase activity	IDA	15123695
GO:0008179	Function	Adenylate cyclase binding	IEA
GO:0008333	Process	Endosome to lysosome transport	TAS	9507004
GO:0009409	Process	Response to cold	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0010739	Process	Positive regulation of protein kinase A signaling	IGI	20395454
GO:0015459	Function	Potassium channel regulator activity	IDA	12297500
GO:0016020	Component	Membrane	NAS	20395454
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0031649	Process	Heat generation	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	15518545, 19763081, 20590567
GO:0042803	Function	Protein homodimerization activity	IDA	15123695
GO:0043235	Component	Receptor complex	IDA	15123695, 23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15123695
GO:0044877	Function	Protein-containing complex binding	IPI	20395454
GO:0045453	Process	Bone resorption	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045986	Process	Negative regulation of smooth muscle contraction	IBA	21873635
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0051380	Function	Norepinephrine binding	IBA	21873635
GO:0051380	Function	Norepinephrine binding	IDA	15123695
GO:0061024	Process	Membrane organization	TAS
GO:0061885	Process	Positive regulation of mini excitatory postsynaptic potential	IEA
GO:0071875	Process	Adrenergic receptor signaling pathway	IDA	19710023
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA	21873635
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IGI	20395454
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	12387862
GO:1901098	Process	Positive regulation of autophagosome maturation	IDA	23708524
GO:1904504	Process	Positive regulation of lipophagy	IDA	23708524
GO:1904646	Process	Cellular response to amyloid-beta	IGI	20395454
GO:1990911	Process	Response to psychosocial stress	TAS	20395454
GO:2000481	Process	Positive regulation of cAMP-dependent protein kinase activity	TAS	20395454
GO:2000969	Process	Positive regulation of AMPA receptor activity	IGI	20395454

Other IDs

• MIM: 109690
• HGNC: 286
• e!Ensembl: ENSG00000169252

Protein

• UniProt ID: P07550
• Protein name: Beta-2 adrenergic receptor (Beta-2 adrenoreceptor) (Beta-2 adrenoceptor)
• Protein function: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepineph
• PDB: 1GQ4, 2R4R, 2R4S, 2RH1, 3D4S, 3KJ6, 3NY8, 3NY9, 3NYA, 3P0G, 3PDS, 3SN6, 4GBR, 4LDE, 4LDL, 4LDO, 4QKX, 5D5A, 5D5B, 5D6L, 5JQH, 5X7D, 6E67, 6KR8, 6MXT, 6N48, 6NI3, 6OBA, 6PRZ, 6PS0, 6PS1, 6PS2, 6PS3, 6PS4, 6PS5, 6PS6, 7BZ2, 7DHI, 7DHR, 7XK9, 7XKA, 8GDZ, 8GE1, 8GE2, 8GE3, 8GE4, 8GE5, 8GE6, 8GE7, 8GE8, 8GE9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	50 → 326	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MGQPGNGSAFLLAPNGSHAPDHDVTQERDEVWVVGMGIVMSLIVLAIVFGNVLVITAIAK
  FERLQTVTNYFITSLACADLVMGLAVVPFGAAHILMKMWTFGNFWCEFWTSIDVLCVTAS
  IETLCVIAVDRYFAITSPFKYQSLLTKNKARVIILMVWIVSGLTSFLPIQMHWYRATHQE
  AINCYANETCCDFFTNQAYAIASSIVSFYVPLVIMVFVYSRVFQEAKRQLQKIDKSEGRF
  HVQNLSQVEQDGRTGHGLRRSSKFCLKEHKALKTLGIIMGTFTLCWLPFFIVNIVHVIQD
  NLIRKEVYILLNWIGYVNSGFNPLIYCRSPDFRIAFQELLCLRRSSLKAYGNGYSSNGNT
  GEQSGYHVEQEKENKLLCEDLPGTEDFVGHQGTVPSDNIDSQGRNCSTNDSLL

• Sequence length: 413

Pathways

KEGG:

Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Adrenergic signaling in cardiomyocytes
Regulation of lipolysis in adipocytes
Renin secretion
Salivary secretion
Chemical carcinogenesis - receptor activation

Reactome:

Adrenoceptors
G alpha (s) signalling events
Ub-specific processing proteases
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	17199132
Cardiomyopathy	Cardiomyopathy, Dilated, Cardiomyopathies, Primary, Cardiomyopathies, Cardiomyopathy, Familial Idiopathic	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	11986409, 25193472
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	17003101
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075	16027735
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	15687340
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	18454446

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Cirrhosis	Cirrhosis		25193472	ClinVar
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Psoriasis	Psoriasis			GWAS
Pelvic Organ Prolapse	Pelvic Organ Prolapse			GWAS
Pancreatitis	Pancreatitis			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Pain	Associate	33546600
Acute Coronary Syndrome	Associate	28235084
Acute Disease	Associate	18159608
Adenocarcinoma of Lung	Associate	23111975, 33979320, 35571564, 35812244, 35833114
Adenocarcinoma of Lung	Inhibit	36163241
Adenomyosis	Associate	33602248
Airway Obstruction	Associate	19293197
Alcohol Related Disorders	Associate	21488193
Anemia Sickle Cell	Associate	18324973
Anxiety	Associate	37142998
Anxiety Disorders	Stimulate	27587791
Aortic Dissection	Associate	36959563
Arrhythmias Cardiac	Associate	18534365, 34713976
Arthritis Rheumatoid	Associate	15498794, 19177262, 37088080
Asthma	Associate	10606977, 10903223, 10950895, 11510784, 14650112, 15557128, 16263254, 16273390, 16322642, 16567656, 16772309, 16931635, 17071831, 17075257, 17297203, 17428813, 18440968, 18558635, 19430548, 19932356, 20443840, 21038778, 21385652, 21436355, 22075484, 22210825, 22278941, 22559839, 22862293, 22950544, 23020224, 23245479, 23267209, 23384627, 23964556, 24131275, 24621682, 24691493, 24838642, 25134539, 25299150, 25395624, 25501358, 25918834, 26369942, 26587832, 28442571, 29162108, 29761786, 30334910, 30468638, 30942450, 33032603, 33156843, 33277970, 33479111, 34090290, 34174807, 34753545, 35352766, 35732075, 36449547, 38049812, 40464075, 7706471, 7785006, 9399966, 9596107
Asthma	Inhibit	25180620
Astrocytoma	Associate	21071556
Atherosclerosis	Associate	22363809, 25299192
Body Weight	Associate	29587766
Bone Diseases	Associate	37189370
Bone Resorption	Associate	37189370
Brain Death	Associate	22994654
Breast Neoplasms	Associate	11434877, 21234673, 22194601, 22864926, 26209110, 26526356, 27875276, 31218733, 34980541, 35806301, 36144682, 37189370
Bronchiolitis	Associate	26369942
Carcinoma Hepatocellular	Associate	24607627, 27255554
Carcinoma Non Small Cell Lung	Associate	38057344
Carcinoma Pancreatic Ductal	Associate	23213073
Carcinoma Renal Cell	Associate	35806301
Cardiomyopathy Dilated	Associate	17569809, 8593450
Cardiotoxicity	Associate	26675706
Cardiovascular Abnormalities	Associate	16728691
Cardiovascular Diseases	Associate	19190821, 21883537, 28442571, 37798313
Cerebral Infarction	Associate	19190821, 24966013
Cerebral Small Vessel Diseases	Associate	24966013
Chemke Oliver Mallek syndrome	Associate	11921496
Chest Pain	Associate	23786226
Chromosome 5q Deletion Syndrome	Associate	9339364
Chronic Pain	Associate	16741943
Colitis Ulcerative	Associate	33546600
Colorectal Neoplasms	Associate	35645356
Conversion Disorder	Associate	23384627, 23786226
Coronary Artery Disease	Associate	16573811, 18534365, 18940527
Coronary Disease	Associate	17198546, 37679988
COVID 19	Associate	33156843, 34975885
Cushing's symphalangism	Associate	14615367, 24966013
Cystic Fibrosis	Associate	17502834, 18440968, 22950544, 25134464, 27471203
Cystitis Interstitial	Associate	16971769
Death	Associate	18940527, 22088871
Death Sudden	Associate	27027728
Death Sudden Cardiac	Associate	18534365, 21215823, 27153462
Depressive Disorder	Associate	24373571, 26945673, 37088080, 7706471
Depressive Disorder	Stimulate	29556870
Diabetes Mellitus	Associate	15520258, 17150099, 17198546, 18440968, 35268025
Diabetes Mellitus Type 2	Associate	17150099, 20829805, 22864926
Diabetic Nephropathies	Associate	32922187
Down Syndrome	Associate	27293319
Drug Hypersensitivity	Associate	29148080, 33277970
Dyslipidemias	Associate	16082424, 17198546, 20537997, 28287890
Dysmenorrhea	Stimulate	33602248
Dyspepsia	Associate	23786226
Dyspnea	Associate	30468638
Eczema	Associate	33277970
Embolism Fat	Associate	12740450, 16286511, 19832974, 21959333
Encephalitis	Stimulate	27400929
Esophageal Squamous Cell Carcinoma	Associate	31485619
Essential Hypertension	Associate	12361188, 15554460, 21483652, 26339405, 9607174
Exocrine Pancreatic Insufficiency	Associate	22950544
Fatigue	Associate	27720787, 37088080
Fibromyalgia	Associate	19565482
Fibrosis	Associate	26109805
Gastroesophageal Reflux	Associate	29148080
general anxiety disorder	Associate	28198454
Gestational Weight Gain	Associate	35268025
Glaucoma	Associate	11921496, 16205624
Glaucoma	Inhibit	36012741
Glaucoma Open Angle	Associate	16785856
Glioma	Associate	19864456, 7982493
Glucose Intolerance	Associate	20829805
Graves Disease	Associate	17143563
Graves Ophthalmopathy	Associate	17143563
Heart Arrest	Associate	27153462
Heart Block	Associate	24366725
Heart Diseases	Associate	16728691, 18940527, 21883537, 22994654, 25592552, 30104167
Heart Failure	Inhibit	11501046, 22843448
Heart Failure	Associate	15994241, 16227135, 17200711, 17569809, 18068431, 18279468, 18440968, 18615004, 18702968, 19034036, 19422106, 19886995, 20202864, 20521014, 21395649, 22088871, 26675706, 29410121, 30104167, 34642472, 37798313, 37952358, 9788966
Hemangioma	Associate	25120757, 36656337
Hemangioma capillary infantile	Associate	22743651
Hemangiosarcoma	Associate	27211551
Hemorrhage	Associate	23786226
Hemorrhagic Stroke	Associate	24823730
Hyperinsulinism	Associate	20738880
Hyperlipidemias	Associate	28287890
Hypertension	Associate	10606977, 12361188, 12527744, 12862199, 15894831, 15994241, 17198546, 18440968, 18615004, 19148102, 19254913, 20044737, 20443852, 20519561, 20537997, 20727557, 21483652, 21883537, 24552127, 24782128, 28287890, 31090079, 34797313, 36011305, 37952358, 9607174
Hypertriglyceridemia	Associate	20738880, 28287890
Hypoplastic Left Heart Syndrome	Associate	24793904, 28734628
Hypotension	Associate	20519561, 20682155, 22881137, 24366725, 26922685, 37952358
Hypoxia	Associate	20869266
Ichthyosis Bullosa of Siemens	Associate	23786226
Ige Responsiveness Atopic	Associate	24691493, 29761786, 33277970
Inflammation	Inhibit	10464825, 29052536
Inflammation	Associate	11510784, 14509560, 18586957, 20423350, 29650006, 32074122, 33156843, 33622325
Insulin Resistance	Associate	19034036, 20537997, 20829805, 22900502
Intermittent Claudication	Associate	20399803
Intervertebral Disc Degeneration	Associate	36499685
Kidney Failure Chronic	Associate	20484896
Kinesiophobia	Associate	24373571
Leukemia	Associate	20981007, 27875276
Lung Diseases	Associate	25186548, 28212552
Lung Diseases Obstructive	Associate	36449547
Lung Injury	Associate	21436355
Lung Neoplasms	Associate	30458782, 38066059
Lymphatic Metastasis	Associate	26526356
Lymphatic Metastasis	Stimulate	29138797
Meibomian Gland Dysfunction	Associate	36012741
Melanoma	Associate	16888633, 16946712, 18996182, 23318885, 25703025, 26596834, 35563024, 37551424
Melanoma Cutaneous Malignant	Associate	26596834
Meningitis Bacterial	Associate	22624056
Meningitis Meningococcal	Associate	22624056
Meningitis Pneumococcal	Associate	22624056
Mental Disorders	Associate	22075484, 25162199, 25186548
Mental Fatigue	Associate	37088080
Metabolic Syndrome	Stimulate	19619703
Metabolic Syndrome	Associate	20537997, 22900502
Methylmalonic acidemia	Associate	21613201
Migraine Disorders	Associate	18647184
Mood Disorders	Associate	29556870, 7986886
Morning Sickness	Associate	19565482
Mouth Diseases	Stimulate	33602248
Multiple Myeloma	Associate	17981009, 31977269
Multiple Sclerosis	Associate	12531948
Multiple Sclerosis	Stimulate	22210239
Multiple Sclerosis Chronic Progressive	Associate	12531948
Muscle Neoplasms	Associate	21532146
Muscular Atrophy	Associate	29968301
Muscular Disorders Atrophic	Associate	29968301
Muscular Dystrophy Duchenne	Associate	31619245, 35115229
Muscular Dystrophy Facioscapulohumeral	Associate	28870238
Musculoskeletal Pain	Associate	16741943
Myasthenia Gravis	Associate	10606977
Myasthenic Syndromes Congenital	Associate	36869887
Myocardial Infarction	Associate	15520258, 17198546, 19190821, 19623647, 20230274, 20399803
Myocardial Stunning	Associate	8593450
Neointima	Associate	39769358
Neoplasm Metastasis	Associate	20037603, 20939893, 22194601, 27875276, 35645356, 36144682, 37551424
Neoplasms	Associate	18098271, 18996182, 20399803, 23318885, 25026350, 26596834, 27255554, 27485115, 27587791, 29118262, 29138797, 31977269, 33051434, 33593484, 34930787, 34980541, 35806301, 35812244, 35833114, 36144682, 36163241
Neoplasms Adipose Tissue	Associate	12740450, 19832974, 20930716
Neoplastic Cells Circulating	Associate	35806301
Neuroblastoma	Associate	12642394, 7982493
Neurofibrosarcoma	Associate	33872989
Nevus Pigmented	Associate	23318885
Non alcoholic Fatty Liver Disease	Associate	20537997
Nonsyndromic Holoprosencephaly	Associate	23786226
Obesity	Associate	10205587, 10606977, 11434877, 12439644, 12740450, 12888635, 16286511, 17150099, 17907319, 18440968, 18611262, 20523301, 20727557, 20738880, 20829805, 20930716, 21233811, 21233812, 21959333, 22094842, 22864926, 23229733, 23875540, 25366745, 25622596, 29587766, 32101872, 35268025, 35406043, 36206635, 9399946
Obesity	Stimulate	32074122
Obesity Abdominal	Associate	12111048
Obesity Abdominal	Inhibit	28824322
Ocular Hypertension	Associate	36768422
Orthostatic Hypotensive Disorder Streeten Type	Associate	21807569
Osteoporosis	Associate	39768200
Ovarian Diseases	Associate	27875276
Ovarian Neoplasms	Associate	27587791
Overweight	Associate	21233811, 21233812, 22864926
Pain	Associate	23786226, 26945673, 29148080, 29723560
Pancreatic Neoplasms	Associate	20037603, 22188668, 22889981, 23029049, 24201779
Parkinson Disease	Associate	29052536
Persistent Vegetative State	Associate	21298412
Pheochromocytoma	Inhibit	7613527
Polycystic Ovary Syndrome	Associate	22900502, 34720019
Polymorphic catecholergic ventricular tachycardia	Associate	12919952
Popliteal Cyst	Associate	21488193
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20981007
Premature Birth	Associate	25600430
Pressure Ulcer	Associate	12862199
Prostatic Neoplasms	Associate	33593484, 34191854
Pseudopseudohypoparathyroidism	Associate	21713996
Pulmonary Arterial Hypertension	Associate	20682155
Pulmonary Disease Chronic Obstructive	Associate	16980556, 18789663, 19293197, 20525719, 22075484, 22383665, 25134539, 25186548, 29588580, 30608978, 33108241, 36111412
Pulmonary Edema	Associate	20869266
Pulmonary edema of mountaineers	Associate	28212552
Pulmonary Valve Insufficiency	Associate	30104167
Renal Insufficiency	Associate	24793904
Respiratory Insufficiency	Associate	14509560
Respiratory Sounds	Associate	18558635
Respiratory Tract Infections	Associate	26369942
Rhinitis	Associate	24131275
Rhinitis Allergic	Associate	15215630
Shock Septic	Associate	19091080
Short Bowel Syndrome	Associate	23786226
Shoulder Pain	Associate	24373571
Signs and Symptoms Respiratory	Associate	21488193, 33559002
Sleep Apnea Obstructive	Associate	17198546, 25366745, 33559002
Sleep Apnea Syndromes	Associate	23609427
Smoke Inhalation Injury	Associate	17428813
Squamous Cell Carcinoma of Head and Neck	Associate	21187140, 22297552, 29138797, 33051434
Status Asthmaticus	Associate	12885990, 14650112, 14678347, 15282385, 16263254, 16448568, 16772309, 17075257, 18440968, 19430548, 20443840, 21038778, 22048503, 23128817, 24691493, 25395624, 27029682, 29761786, 35735057, 7706471
Stiff Skin Syndrome	Associate	23936460
Stomach Neoplasms	Associate	20939893, 24815301, 27485115, 33495829, 37215115
Stress Disorders Post Traumatic	Associate	25162199
Stroke	Associate	14615367, 19190821
Subarachnoid Hemorrhage	Associate	16728691, 20682155
Sudden Infant Death	Associate	33559002
Tachycardia Ectopic Junctional	Associate	34713976
Takotsubo Cardiomyopathy	Associate	23794609, 30143703, 34716504
Temporomandibular Joint Disorders	Associate	16741943
Urinary Bladder Neoplasms	Associate	32570217
Uterine Cervical Diseases	Associate	25600430
Uterine Cervicitis	Associate	29197114
Varicose Veins	Associate	26109805
Vascular Diseases	Associate	22743651
Ventricular Dysfunction Left	Associate	20521014, 22994654
Ventricular Fibrillation	Associate	36926933
Weight Loss	Associate	26888112, 37572548
Wounds and Injuries	Associate	25162199