ADRA2B (adrenoceptor alpha 2B)

Gene

• Entrez ID: 151
• Gene name: Adrenoceptor alpha 2B
• Gene symbol: ADRA2B
• Synonyms (NCBI Gene): ADRA2L1, ADRA2RL1, ADRARL1, ALPHA2BAR, FAME2, alpha-2BAR
• Disease Acronyms (UniProt): FAME2
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous syste

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205528	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT713041	hsa-miR-1245a	HITS-CLIP	19536157
MIRT713040	hsa-miR-8079	HITS-CLIP	19536157
MIRT713039	hsa-miR-1247-5p	HITS-CLIP	19536157
MIRT713038	hsa-miR-6777-5p	HITS-CLIP	19536157
MIRT713037	hsa-miR-6889-5p	HITS-CLIP	19536157
MIRT713036	hsa-miR-542-5p	HITS-CLIP	19536157
MIRT713041	hsa-miR-1245a	HITS-CLIP	19536157
MIRT713040	hsa-miR-8079	HITS-CLIP	19536157
MIRT713039	hsa-miR-1247-5p	HITS-CLIP	19536157
MIRT713038	hsa-miR-6777-5p	HITS-CLIP	19536157
MIRT713037	hsa-miR-6889-5p	HITS-CLIP	19536157
MIRT713036	hsa-miR-542-5p	HITS-CLIP	19536157
MIRT616471	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT616470	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT616469	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT616468	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT616467	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT616466	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT616465	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT616464	hsa-miR-922	HITS-CLIP	23824327
MIRT616463	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT616462	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT616461	hsa-miR-761	HITS-CLIP	23824327
MIRT616460	hsa-miR-4291	HITS-CLIP	23824327
MIRT616459	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT616458	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT616457	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616456	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT616455	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT616454	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT527167	hsa-miR-4286	PAR-CLIP	22012620
MIRT527166	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT527165	hsa-miR-4667-5p	PAR-CLIP	22012620
MIRT527163	hsa-miR-4700-5p	PAR-CLIP	22012620
MIRT527164	hsa-miR-8089	PAR-CLIP	22012620
MIRT527162	hsa-miR-3175	PAR-CLIP	22012620
MIRT527161	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT527160	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT527159	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT527158	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT527157	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT713041	hsa-miR-1245a	HITS-CLIP	19536157
MIRT713040	hsa-miR-8079	HITS-CLIP	19536157
MIRT713039	hsa-miR-1247-5p	HITS-CLIP	19536157
MIRT713038	hsa-miR-6777-5p	HITS-CLIP	19536157
MIRT713037	hsa-miR-6889-5p	HITS-CLIP	19536157
MIRT713036	hsa-miR-542-5p	HITS-CLIP	19536157
MIRT713041	hsa-miR-1245a	HITS-CLIP	19536157
MIRT713040	hsa-miR-8079	HITS-CLIP	19536157
MIRT713039	hsa-miR-1247-5p	HITS-CLIP	19536157
MIRT713038	hsa-miR-6777-5p	HITS-CLIP	19536157
MIRT713037	hsa-miR-6889-5p	HITS-CLIP	19536157
MIRT713036	hsa-miR-542-5p	HITS-CLIP	19536157
MIRT616471	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT616470	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT616469	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT616468	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT616467	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT616466	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT616465	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT616464	hsa-miR-922	HITS-CLIP	23824327
MIRT616463	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT616462	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT616461	hsa-miR-761	HITS-CLIP	23824327
MIRT616460	hsa-miR-4291	HITS-CLIP	23824327
MIRT616459	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT616458	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT616457	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616456	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT616455	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT616454	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT527167	hsa-miR-4286	PAR-CLIP	22012620
MIRT527166	hsa-miR-361-3p	PAR-CLIP	22012620
MIRT527165	hsa-miR-4667-5p	PAR-CLIP	22012620
MIRT527163	hsa-miR-4700-5p	PAR-CLIP	22012620
MIRT527164	hsa-miR-8089	PAR-CLIP	22012620
MIRT527162	hsa-miR-3175	PAR-CLIP	22012620
MIRT527161	hsa-miR-1343-5p	PAR-CLIP	22012620
MIRT527160	hsa-miR-939-5p	PAR-CLIP	22012620
MIRT527159	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT527158	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT527157	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT769947	hsa-miR-31	CLIP-seq
MIRT769948	hsa-miR-4707-5p	CLIP-seq
MIRT1921514	hsa-miR-15a	CLIP-seq
MIRT1921515	hsa-miR-15b	CLIP-seq
MIRT1921516	hsa-miR-16	CLIP-seq
MIRT1921517	hsa-miR-195	CLIP-seq
MIRT1921518	hsa-miR-214	CLIP-seq
MIRT1921519	hsa-miR-424	CLIP-seq
MIRT1921520	hsa-miR-497	CLIP-seq
MIRT1921514	hsa-miR-15a	CLIP-seq
MIRT1921515	hsa-miR-15b	CLIP-seq
MIRT1921516	hsa-miR-16	CLIP-seq
MIRT1921517	hsa-miR-195	CLIP-seq
MIRT1921518	hsa-miR-214	CLIP-seq
MIRT1921519	hsa-miR-424	CLIP-seq
MIRT1921520	hsa-miR-497	CLIP-seq
MIRT2168008	hsa-miR-140-3p	CLIP-seq
MIRT2168009	hsa-miR-149	CLIP-seq
MIRT2168010	hsa-miR-3064-5p	CLIP-seq
MIRT2168011	hsa-miR-3119	CLIP-seq
MIRT2168012	hsa-miR-3914	CLIP-seq
MIRT2168013	hsa-miR-3936	CLIP-seq
MIRT2168014	hsa-miR-4426	CLIP-seq
MIRT2168015	hsa-miR-4454	CLIP-seq
MIRT2168016	hsa-miR-4647	CLIP-seq
MIRT2168017	hsa-miR-4662b	CLIP-seq
MIRT2168018	hsa-miR-4700-3p	CLIP-seq
MIRT2168019	hsa-miR-4794	CLIP-seq
MIRT2168020	hsa-miR-607	CLIP-seq
MIRT2470521	hsa-miR-1976	CLIP-seq
MIRT2470522	hsa-miR-3136-3p	CLIP-seq
MIRT2470523	hsa-miR-4267	CLIP-seq
MIRT2470521	hsa-miR-1976	CLIP-seq
MIRT2674636	hsa-miR-23a	CLIP-seq
MIRT2674637	hsa-miR-23b	CLIP-seq
MIRT2674638	hsa-miR-23c	CLIP-seq
MIRT2674639	hsa-miR-3074-3p	CLIP-seq
MIRT2470522	hsa-miR-3136-3p	CLIP-seq
MIRT2674640	hsa-miR-34b	CLIP-seq
MIRT2470523	hsa-miR-4267	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	15037199
STAT6	Unknown	15037199
TFAP2A	Unknown	15037199

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0003056	Process	Regulation of vascular associated smooth muscle contraction	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004938	Function	Alpha2-adrenergic receptor activity	IBA	21873635
GO:0004938	Function	Alpha2-adrenergic receptor activity	IDA	17215105
GO:0005515	Function	Protein binding	IPI	16531006, 23105096, 24114805, 26811329, 27901063, 28862946
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	17215105
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007267	Process	Cell-cell signaling	TAS	2164221
GO:0007565	Process	Female pregnancy	IEA
GO:0009986	Component	Cell surface	IDA	27901063
GO:0010700	Process	Negative regulation of norepinephrine secretion	NAS	16531006
GO:0010700	Process	Negative regulation of norepinephrine secretion	TAS	19477270
GO:0030168	Process	Platelet activation	IEA
GO:0032148	Process	Activation of protein kinase B activity	IDA	17215105
GO:0032811	Process	Negative regulation of epinephrine secretion	NAS	16531006
GO:0035624	Process	Receptor transactivation	IDA	17215105
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	17215105
GO:0045666	Process	Positive regulation of neuron differentiation	IDA	17215105
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0051379	Function	Epinephrine binding	IBA	21873635
GO:0051379	Function	Epinephrine binding	IDA	17215105
GO:0070474	Process	Positive regulation of uterine smooth muscle contraction	IEA
GO:0071875	Process	Adrenergic receptor signaling pathway	IDA	17215105
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA	21873635

Other IDs

• MIM: 104260
• HGNC: 282
• e!Ensembl: ENSG00000274286

Protein

• UniProt ID: P18089
• Protein name: Alpha-2B adrenergic receptor (Alpha-2 adrenergic receptor subtype C2) (Alpha-2B adrenoreceptor) (Alpha-2B adrenoceptor) (Alpha-2BAR)
• Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline
• PDB: 6K41, 6K42
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	29 → 426	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADIL
  VATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEY
  NSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQCKLNQEAWYILASSIGS
  FFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASV
  ASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEE
  EEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRR
  AQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKHCKVPHGLFQFFFWIGYCNSS
  LNPVIYTIFNQDFRRAFRRILCRPWTQTAW

• Sequence length: 450

Pathways

KEGG:

cGMP-PKG signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling

Reactome:

Adrenoceptors
Adrenaline signalling through Alpha-2 adrenergic receptor
G alpha (i) signalling events
G alpha (z) signalling events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Profound Mental Retardation, Mental deficiency, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	21937992
Myoclonic epilepsy	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1, EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	24114805, 11701600
Seizure	Generalized seizures, Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Epilepsy	epilepsy, familial adult myoclonic, 2			GenCC
Benign Myoclonic Epilepsy	benign adult familial myoclonic epilepsy			GenCC
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	11345359
Anemia Sickle Cell	Associate	8571935
Anxiety	Associate	21854681
beta Thalassemia	Associate	3955238
Blood Platelet Disorders	Associate	10449749
Breast Neoplasms	Associate	24599592, 30279141
Carcinoma Hepatocellular	Associate	22961449
Cardiovascular Diseases	Associate	18953403
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	21854681
COVID 19	Associate	33073699
Death Sudden Cardiac	Associate	12535806
delta Thalassemia	Associate	3955238
Depressive Disorder	Associate	21854681
Diabetes Mellitus Type 2	Associate	18953403, 33900865
Essential Hypertension	Associate	18953403, 32293282
Fetal Growth Retardation	Stimulate	30273604
Heart Failure	Associate	34868339
Hypertension	Associate	18953403, 29027816, 33900865
Hypoxia	Stimulate	37653539
Immunologic Deficiency Syndromes	Associate	9763559
Inflammation	Associate	24716593
Lymphoma T Cell	Associate	26854024
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	33276370
Malpuech facial clefting syndrome	Associate	12871468, 7620188
Migraine Disorders	Associate	32632093
Multiple Sclerosis	Associate	9763559
Myocardial Infarction	Associate	12535806
Neoplasms	Associate	24599592
Neurofibromatosis Noonan syndrome	Associate	9722314
Non alcoholic Fatty Liver Disease	Associate	24716593
Obesity	Associate	12917501
Obesity	Stimulate	30658193
Obesity Abdominal	Associate	12917501
Polycythemia	Associate	8571935
Pulmonary Arterial Hypertension	Associate	29027816
Severe Acute Respiratory Syndrome	Associate	30273604
Stress Disorders Post Traumatic	Associate	24155306
Thrombasthenia	Associate	12424194, 12506038, 12871468, 16879215, 18791937, 22394243, 25827233, 29385657, 33276370, 34275420, 40239810, 7620188, 9722314, 9739052, 9763559
Thrombocytopenia	Associate	33276370
Urinary Bladder Neoplasms	Associate	29739919
Uterine Cervicitis	Associate	29197114