TSHR (thyroid stimulating hormone receptor)

Gene

• Entrez ID: 7253
• Gene name: Thyroid stimulating hormone receptor
• Gene symbol: TSHR
• Synonyms (NCBI Gene): CHNG1, LGR3, hTSHR-I
• Disease Acronyms (UniProt): CHNG1
• Chromosome: 14
• Chromosome location: 14q31.1
• Summary: The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a c

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017856	hsa-miR-335-5p	Microarray	18185580
MIRT023731	hsa-miR-1-3p	Microarray	18668037
MIRT025045	hsa-miR-181a-5p	Microarray	17612493
MIRT1458698	hsa-miR-1270	CLIP-seq
MIRT1458699	hsa-miR-1286	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458702	hsa-miR-28-3p	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458704	hsa-miR-4282	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458706	hsa-miR-432	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq
MIRT1458708	hsa-miR-4424	CLIP-seq
MIRT1458709	hsa-miR-4531	CLIP-seq
MIRT1458710	hsa-miR-4690-5p	CLIP-seq
MIRT1458711	hsa-miR-4711-3p	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458713	hsa-miR-620	CLIP-seq
MIRT1458714	hsa-miR-645	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458700	hsa-miR-214	CLIP-seq
MIRT1458703	hsa-miR-3619-5p	CLIP-seq
MIRT2358483	hsa-miR-4280	CLIP-seq
MIRT1458705	hsa-miR-4291	CLIP-seq
MIRT1458712	hsa-miR-4759	CLIP-seq
MIRT1458715	hsa-miR-761	CLIP-seq
MIRT1458716	hsa-miR-922	CLIP-seq
MIRT2396408	hsa-miR-3545-3p	CLIP-seq
MIRT2462473	hsa-miR-203	CLIP-seq
MIRT2462474	hsa-miR-3145-3p	CLIP-seq
MIRT2462475	hsa-miR-3689a-5p	CLIP-seq
MIRT2462476	hsa-miR-3689b	CLIP-seq
MIRT2462477	hsa-miR-3689e	CLIP-seq
MIRT2462478	hsa-miR-3689f	CLIP-seq
MIRT2462479	hsa-miR-576-3p	CLIP-seq
MIRT1458701	hsa-miR-224	CLIP-seq
MIRT1458707	hsa-miR-433	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX8	Repression	17614769
PPARG	Repression	17614769

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	IBA	21873635
GO:0004996	Function	Thyroid-stimulating hormone receptor activity	IMP	11847099
GO:0005515	Function	Protein binding	IPI	15775968, 28298427
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	12045258
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	8552586
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	12045258
GO:0007190	Process	Activation of adenylate cyclase activity	IBA	21873635
GO:0007267	Process	Cell-cell signaling	TAS	7920658
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	7920658
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA	21873635
GO:0009755	Process	Hormone-mediated signaling pathway	IBA	21873635
GO:0009986	Component	Cell surface	ISS
GO:0016323	Component	Basolateral plasma membrane	IDA	11847099
GO:0038023	Function	Signaling receptor activity	IMP	12045258
GO:0038194	Process	Thyroid-stimulating hormone signaling pathway	IMP	11847099
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044877	Function	Protein-containing complex binding	IDA	12045258
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	18559984
GO:1904588	Process	Cellular response to glycoprotein	IMP	12045258
GO:1905229	Process	Cellular response to thyrotropin-releasing hormone	IMP	11847099

Other IDs

• MIM: 603372
• HGNC: 12373
• e!Ensembl: ENSG00000165409

Protein

• UniProt ID: P16473
• Protein name: Thyrotropin receptor (Thyroid-stimulating hormone receptor) (TSH-R)
• Protein function: Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this recep
• PDB: 2XWT, 3G04, 7T9I, 7T9M, 7T9N, 7UTZ, 7XW5, 7XW6, 7XW7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13306	LRR_5	53 → 143	BspA type Leucine rich repeat region (6 copies)	Repeat
  PF00001	7tm_1	431 → 678	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690). {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:2610690}.
• Sequence:

  MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLI
  ETHLRTIPSHAFSNLPNISRIYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPD
  ALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQGLCNETL
  TLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
  LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLM
  CNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQE
  DEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMGYKFLRIV
  VWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
  YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACA
  IMVGGWVCCFLLALLPLVGISSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCC
  YVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPLITVSNSK
  ILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
  VQKVTHDMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL

• Sequence length: 764

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone synthesis
Regulation of lipolysis in adipocytes
Autoimmune thyroid disease

Reactome:

Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	9062474
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670	24895636, 11442002, 28455095, 12629076, 27084275, 15693879, 22405933, 19158199, 27637299, 26709262, 23404215, 28444304, 21677043, 27525530, 19506388, 21707688, 21714469, 23926367, 17526952
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Hyperthyroidism	Hyperthyroidism, Hyperthyroidism, Nonautoimmune, Familial hyperthyroidism due to mutations in TSH receptor, Primary Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167	7800007, 8964822, 8413627, 9398746, 9349581, 9589634, 11517004, 11549687, 11081252, 9360555, 23295291, 15163335, 11127522, 24947036, 10852462, 10199795, 7920658, 8636266, 11201847
Hyperthyroidism gestational	Familial gestational hyperthyroidism, Hyperthyroidism, Familial Gestational	rs121908863, rs121908872, rs121908879, rs189261858, rs760874290	9854118
Hypothyroidism	Hypothyroidism, Hypothyroidism due to TSH receptor mutations	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Mental retardation	Severe intellectual disability, 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
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	9062474
Thyroid carcinoma with thyrotoxicosis	Thyroid Carcinoma With Thyrotoxicosis	rs28937584
Thyroid hormone resistance	Generalized Thyroid Hormone Resistance, Thyroid Hormone Resistance Syndrome	rs121918686, rs121918688, rs121918687, rs387906515, rs121918690, rs28999971, rs121918691, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696, rs121918697, rs121918698, rs121918703, rs121918704, rs121918705, rs121918706, rs121918707, rs121918708, rs1057519028, rs1060499695, rs1553610984, rs1553609185, rs1553609090, rs1553609119, rs1553609152, rs1553609179, rs1553610974, rs1553611038, rs1553611075, rs1553611083, rs750905761, rs1553609167, rs1553609210	27525530

Unknown
Disease term	Disease name	Evidence	References	Source
Tourette Syndrome	Tourette Syndrome			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Follicular	Associate	34171097
Adenocarcinoma of Lung	Associate	35140701
Adenoma	Associate	19191749, 21274318, 31077238, 9294132
Adenomatous Polyposis Coli	Associate	9294132
Allanson Pantzar McLeod syndrome	Associate	37561783
Asymptomatic Infections	Associate	21745101, 23332130, 25557138
Autoimmune Diseases	Associate	22517745
Carcinogenesis	Associate	26323637
Carcinoma Papillary	Associate	9303357
Carcinoma Small Cell	Associate	23844610
Cardiomyopathy Dilated	Associate	9409648
Cardiomyopathy infantile histiocytoid	Associate	37716507
Colorectal Neoplasms	Associate	28675510
Congenital Hypothyroidism	Associate	18379122, 25146893, 25557138, 26709262, 27255745, 27525530, 34200080, 34234053, 36468928, 36913313, 37346832, 37561783, 40362701, 40391015, 9185526
COVID 19	Associate	34276672, 37246981
Endometriosis	Associate	36152376
Epidermolysis bullosa pretibial	Associate	7508946
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epileptic Syndromes	Associate	27373559
Epstein Barr Virus Infections	Associate	28333576
Exophthalmos	Associate	38107520
Genetic Diseases Inborn	Associate	30022773
Genomic Instability	Associate	36619548
Glomerulonephritis Membranous	Associate	34115025
Goiter	Associate	27525921
Goiter Multinodular 2	Associate	16284436, 2577491, 27525921
Graves Disease	Associate	16617190, 18190611, 18655531, 18832736, 18925838, 1914236, 19897675, 21124799, 22517745, 22673349, 23118423, 2358066, 23852019, 24086448, 24446657, 24517461, 24840811, 25061884, 25122677, 25127106, 25759125, 2577491, 26943356, 28195550, 2835260, 28672775, 28919585, 29093229, 29752312, 29973096, 29987165, 31379878, 31865369, 32342657, 33443352, 33669123, 33912135, 35386700, 7615799, 8136456, 8552586, 9409648
Graves Disease	Stimulate	38107520
Graves Ophthalmopathy	Associate	14764816, 15115450, 17122103, 19897675, 20017620, 22399514, 22673349, 23482611, 24517461, 25061884, 25411513, 25485727, 26213859, 31622470, 34412613, 34949642, 36554821, 38107520, 7508946
Graves Ophthalmopathy	Stimulate	22517745
Hashimoto Disease	Associate	22673349, 24328419, 29973096, 30624501
Hashimoto's encephalitis	Associate	31585887
Hyperthyroidism	Associate	11036883, 16960398, 18025759, 18655531, 18832736, 19191749, 20929407, 21274318, 2358066, 24086448, 25061884, 2577491, 27525921, 30372544, 33443352, 33669123, 36130976, 37876543, 38241561, 8136456, 9294132
Hyperthyroidism	Stimulate	30624501, 35550326
Hyperthyroidism Nonautoimmune	Associate	16960398, 18025759, 20929407, 21274318, 28195550, 9294132
Hypokalemia	Associate	38241561
Hypothyroidism	Associate	21490078, 23332130, 25079464, 29973617, 31541602, 32995956, 36130976, 37686882, 38241561, 40391015
Hypothyroidism Autoimmune	Associate	22947348, 23332130, 8552586
Hypothyroidism Congenital Nongoitrous 1	Associate	15870119, 25557138
Hypothyroidism Congenital Nongoitrous 2	Associate	32765423, 9185526
Infections	Associate	25759125
Inflammation	Associate	25411513, 26287404
Intellectual Disability	Associate	36468928
Kidney Diseases	Associate	34115025
Leprosy Paucibacillary	Associate	36619548
Lung Neoplasms	Stimulate	37885353
Lung Neoplasms	Associate	37885353
Lymphatic Metastasis	Associate	31658048, 39363900
Melanoma	Associate	36553569
Mitral Valve Prolapse	Associate	12558129
Neoplasm Metastasis	Inhibit	27649658
Neoplasm Metastasis	Associate	32195970, 37716507
Neoplasms	Associate	16091757, 19893615, 22001338, 24844218, 25209362, 26518340, 27084275, 27500488, 27626165, 32195970, 32995956, 36619548, 37042127, 37885353, 9303357
Obesity	Associate	25079464
Ocular Motility Disorders	Associate	38107520
Osteoarthropathy Primary Hypertrophic	Associate	7508946
Ovarian Diseases	Associate	24844218
Ovarian Neoplasms	Inhibit	24844218
Ovarian Neoplasms	Associate	36722270
Peritoneal Neoplasms	Associate	15115450
Persistent Infection	Associate	36913313
Psychomotor Disorders	Associate	27255745
Respiratory Insufficiency	Associate	18655531
Struma Ovarii	Associate	26530865
Tachycardia Sinus	Stimulate	35550326
Thymus Hyperplasia	Associate	26996584
Thyroid Adenoma Hyperfunctioning	Associate	12558129, 18655531, 19191749, 21274318, 22001338, 28195550
Thyroid cancer follicular	Associate	31703413
Thyroid cancer Hurthle cell	Associate	37716507
Thyroid Cancer Papillary	Associate	19550078, 24086368, 25303483, 26323637, 27649658, 31658048, 31758407, 36142613, 37560303, 9303357
Thyroid Carcinoma Anaplastic	Associate	27796151, 34751390
Thyroid Crisis	Associate	22001338
Thyroid Diseases	Associate	23426615, 25557138, 30485936, 36130976
Thyroid Dysgenesis	Associate	30022773, 30240412, 30304112, 37561783, 39337518, 40391015
Thyroid Dyshormonogenesis 1	Associate	27525530, 30022773, 31541602, 32765423, 34539567, 39337518
Thyroid Hormone Metabolism Abnormal	Associate	29973617
Thyroid Neoplasms	Associate	15080771, 16091757, 16381821, 18682709, 22001338, 23979959, 24844218, 26427660, 27500488, 27649658, 30058701, 36293065, 37208644, 37716507, 9294132
Thyroid Nodule	Associate	11119705, 16284436, 16960398, 19550078, 22001338, 26519197, 26818556, 33443352, 36619548, 37560303
Thyroiditis	Associate	25146893, 28644858, 36207832, 39337518
Thyroiditis Autoimmune	Associate	17952073, 22673349, 2358066, 23852019, 24328419, 25122677, 29973096
Thyroiditis Autoimmune	Stimulate	34115025
Tremor	Associate	28195550
Triple Negative Breast Neoplasms	Associate	34944094