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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperthyroidism
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Accession:DOID:7998 term browser browse the term
Definition:A thyroid gland disease that involves an over production of thyroid hormone. (DO)
Synonyms:exact_synonym: hyperthyroid;   overactive thyroid;   primary hyperthyroidism
 xref: EFO:0009189;   MESH:D006980;   MONDO:0004425;   NCI:C113145;   NCI:C3123;   ORDO:99819
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing IEP RGD PMID:17161219 RGD:1599133 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:9022675 RGD:2306952 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:227,287,717...227,306,831 		JBrowse link
G Anxa2 annexin A2 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:78,986,242...79,022,631 		JBrowse link
G Anxa5 annexin A5 IEP protein:decreased expression:thyroid gland: RGD PMID:9022675 RGD:2306952 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:121,242,136...121,281,400 		JBrowse link
G Apoa1 apolipoprotein A1 IDA RGD PMID:1466661 RGD:1599158 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoa2 apolipoprotein A2 IEP RGD PMID:1466661 RGD:1599158 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:86,174,741...86,179,410 		JBrowse link
G Apoc3 apolipoprotein C3 IDA RGD PMID:8429259 RGD:1599190 NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679 		JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12621104 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504 		JBrowse link
G Bdh1 3-hydroxybutyrate dehydrogenase 1 IEP protein:decreased activity:liver, mitochondrion (rat) RGD PMID:3422549 RGD:4105460 NCBI chr11:69,302,534...69,343,173
Ensembl chr11:82,807,503...82,842,636 		JBrowse link
G Cab39 calcium binding protein 39 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:93,911,054...93,972,542 		JBrowse link
G Cartpt CART prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12395121 NCBI chr 2:32,989,215...32,991,794
Ensembl chr 2:32,989,215...32,999,712 		JBrowse link
G Casp3 caspase 3 IEP protein:decreased expression:endometrium, myometrium RGD PMID:17394799 RGD:2317698 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Cat catalase IEP
ISO 		mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23391542 PMID:19914224 RGD:9068475 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:16756463 RGD:8547761 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cp ceruloplasmin IEP protein:increased expression:serum RGD PMID:18210749 RGD:2314689 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:104,368,456...104,427,087 		JBrowse link
G Cs citrate synthase IDA RGD PMID:15817832 RGD:243048477 NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:extensor digitorum longus (rat) RGD PMID:19777444 RGD:2315547 NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113 		JBrowse link
G Gpx1 glutathione peroxidase 1 IDA
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:19914224 RGD:9068475 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:25242845 RGD:10401891 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23623788 RGD:10755742 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:myocardium RGD PMID:17447016 RGD:2311524 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il10 interleukin 10 ISO
IEP 		associated with Graves Disease RGD PMID:21474590 PMID:24534949 RGD:7364857, RGD:11049472 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Mb myoglobin IEP RGD PMID:25098716 RGD:460967409 NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:110,640,512...110,647,958 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 IEP protein:increased expression:endometrium, myometrium, placenta RGD PMID:17394799 RGD:2317698 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:22,155,921...22,163,771 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase IEP protein:increased activity:liver (rat) RGD PMID:7990714 RGD:6893690 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 IEP RGD PMID:1315530 RGD:10448989 NCBI chr10:84,224,599...84,231,812
Ensembl chr10:84,224,540...84,231,812 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat)
protein:decreased expression:paraventricular nucleus, median eminence (rat) 		RGD PMID:15291740 PMID:16497799 RGD:2308889, RGD:1601276 NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:6,129,592...6,176,974 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14678291 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:increased expression:soleus muscle (rat) RGD PMID:18669938 RGD:10059691 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human) RGD PMID:17194971 RGD:7421571 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Serpina7 serpin family A member 7 IEP protein:decreased expression:serum (rat) RGD PMID:2505856 RGD:1600139 NCBI chr  X:107,452,044...107,510,958
Ensembl chr  X:107,452,044...107,457,681 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:14512089 RGD:8547758 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP protein:increased expression:renal cortex, brush border membrane (rat) RGD PMID:10098486 RGD:7243131 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IEP protein:increased expression:heart, microsome RGD PMID:12039959 RGD:625494 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:150,860,228...150,913,517 		JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19914224 PMID:22476324 RGD:8655984 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19914224 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Stk11 serine/threonine kinase 11 IEP mRNA,protein:increased expression:muscle: RGD PMID:18669938 RGD:10059691 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7800007 PMID:8413627 PMID:8964822 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
G Ucp3 uncoupling protein 3 IEP protein:increased expression:skeletal muscle, mitochondrion RGD PMID:17012607 RGD:2313535 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 IEP mRNA:increased expression:hepatocyte RGD PMID:14620509 RGD:1600445 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Vim vimentin IEP protein:increased expression, hyperphosphorylation:testis RGD PMID:17306450 RGD:6480446 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
familial gestational hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Familial gestational hyperthyroidism ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:115,681,753...116,059,758
Ensembl chr 6:115,681,712...116,057,167 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial gestational hyperthyroidism 		CTD
ClinVar
OMIM		 PMID:7528344 PMID:8636266 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca1 carbonic anhydrase 1 ISO RGD PMID:26034078 RGD:408425976 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:88,495,475...88,593,454 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma: 		RGD PMID:20394549 PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 severity
no_association 		ISO associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)
protein:increased expression:serum: 		RGD PMID:16893393 PMID:19734241 PMID:22663548 RGD:7421511, RGD:7421523, RGD:7421521 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum 		RGD PMID:21067483 PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity
susceptibility 		ISO protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human) 		RGD PMID:12186498 PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il23r interleukin 23 receptor no_association
susceptibility 		ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human) 		RGD PMID:22663548 PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810 		JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:101,010,447...101,094,777 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:150,095,787...150,221,104 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:253,218,970...253,231,785 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human) 		RGD PMID:15219383 PMID:16191343 PMID:8444271 RGD:7365073, RGD:12904066, RGD:7794734 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
Graves' disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum 		RGD PMID:18997483 PMID:20583542 RGD:5686818, RGD:5686857 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Adrb2 adrenoceptor beta 2 susceptibility ISO DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) RGD PMID:17143563 RGD:8548467 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,306,712...20,489,686 		JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:96,808,473...96,833,674
Ensembl chr14:100,967,131...101,043,412 		JBrowse link
G Btnl2 butyrophilin-like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,492,111...4,505,932 		JBrowse link
G C4a complement C4A ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,010,306...4,024,707 JBrowse link
G C4b complement C4B ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,201,961...4,216,289 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
G Cd40 CD40 molecule onset
no_association 		ISO DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727 PMID:18755875 PMID:15307939 RGD:8547766, RGD:8547778, RGD:8547769 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Graves disease, susceptibility to, 1 ClinVar PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:24728327 More... NCBI chr 6:115,681,753...116,059,758
Ensembl chr 6:115,681,712...116,057,167 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association
susceptibility 		ISO DNA:SNP:promoter:-318C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:49G>A(human)
DNA:SNP: :rs231779(human)
DNA:SNP: :-318C>T(rs11571302)(human)
DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human)
DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) 		CTD
RGD		 PMID:19731979 PMID:21841780 PMID:23104008 PMID:9861324 PMID:10404810 More... RGD:2302000, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:1300388, RGD:2302001 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Dnmt1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility
no_association 		ISO DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat 		RGD PMID:17941906 PMID:11180758 RGD:8693348, RGD:10045850 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr 6:33,551,583...33,570,055
Ensembl chr 6:33,558,517...33,568,129 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO DNA:polymorphism:cds:p.T420K(human)
CTD Direct Evidence: marker/mechanism
DNA:repeats:intron 		CTD
RGD		 PMID:12050214 PMID:16868893 PMID:12050214 RGD:5509883, RGD:5509886 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Icam1 intercellular adhesion molecule 1 no_association
onset 		ISO protein:increased expression:blood, lymphocyte
DNA:SNP: :p.K469E (rs5498) (human)
DNA:polymorphism: :c.721G>A (human) 		RGD PMID:12357047 PMID:17873320 PMID:14557478 RGD:8158121, RGD:8547702, RGD:8158124 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:67,637,545...67,683,968 		JBrowse link
G Ifng interferon gamma susceptibility
treatment 		ISO DNA:microsatellite repeats:intron:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
protein:increased expression:serum: 		CTD
RGD		 PMID:33132244 PMID:9848715 PMID:15544617 PMID:16970687 PMID:15068623 More... RGD:8142372, RGD:8157604, RGD:8157599, RGD:8142393, RGD:8142373 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: increased expression: blood: T cells and B cells RGD PMID:18832736 RGD:5686433 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP: :rs1800896 (human)
DNA:SNPs:promoter:multiple
protein:increased expression:serum
DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) 		RGD PMID:21424183 PMID:15497451 PMID:19250272 PMID:19882211 RGD:7364858, RGD:7365074, RGD:7365026, RGD:7364862 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il13 interleukin 13 disease_progression
susceptibility 		ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human)
DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) 		RGD PMID:21235536 PMID:15483090 RGD:7829719, RGD:8549544 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:33132244 PMID:22816799 RGD:9068423 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il18 interleukin 18 no_association ISO protein:increased expression:serum
DNA:SNPs:promoter, exon:multiple 		RGD PMID:12689659 PMID:16571086 RGD:8655878, RGD:8655916 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNP:promoter:-511C>T (human) RGD PMID:16025481 PMID:2674184 RGD:7401177, RGD:7401207 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il23r interleukin 23 receptor susceptibility
no_association 		ISO DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human) 		RGD PMID:18073300 PMID:19021011 RGD:8549554, RGD:8549564 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il6 interleukin 6 disease_progression ISO DNA:polymorphism:promoter:-572C>G(human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum: 		CTD
RGD		 PMID:16372246 PMID:21235536 PMID:12818091 RGD:7829719, RGD:7829750 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Il6r interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16372246 PMID:12818091 RGD:7829750 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:177,582,164...177,645,221 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Pdcd1 programmed cell death 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: SNP: cds: C1858T
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)
DNA:SNP, haplotype:promoter:-1123G>C (human) 		CTD
RGD		 PMID:21190368 PMID:15504986 PMID:17608818 PMID:18687223 RGD:6484538, RGD:7829763, RGD:7829738 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:55,133,532...55,150,701
Ensembl chr 1:55,117,492...55,150,701 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)
DNA:polymorphism:cds:HLA-DQB1*0602 (human) 		RGD PMID:10468909 PMID:11272094 RGD:7421572, RGD:7483568 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility
onset 		ISO DNA:polymorphisms:cds:HLA-B*46 (human)
DNA:polymorphisms:cds:HLA-B39 (human)
DNA:polymorphisms:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B8 (human)
DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human) 		RGD PMID:23329888 PMID:8894996 PMID:2401095 PMID:8096501 PMID:12694583 RGD:7365094, RGD:7365110, RGD:7365118, RGD:7365112, RGD:7365098 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*12:02, HLA-DRB1*16:02(human)
DNA:polymorphism: :HLA-DRB1*0301(human)
DNA:polymorphism: :HLA-DRB1*03(human) 		RGD PMID:21307958 PMID:11263477 PMID:15219383 RGD:7365065, RGD:7365089, RGD:7365073 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Serpine1 serpin family E member 1 treatment ISO protein:increased expression:tears (human) RGD PMID:11980614 PMID:22385289 RGD:8547709, RGD:8547756 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:65,365,306...65,383,795 		JBrowse link
G Tg thyroglobulin treatment
no_association 		ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
DNA:SNPs:exon:multiple 		CTD
RGD		 PMID:33132244 PMID:14636875 PMID:95586 PMID:17550957 PMID:22662162 More... RGD:8548606, RGD:8548645, RGD:8548644, RGD:8548643, RGD:8548630 NCBI chr 7:100,307,349...100,492,246
Ensembl chr 7:100,307,349...100,314,539
Ensembl chr 7:100,307,349...100,314,539 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-308G>A(rs1800629)(human)
DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human)
DNA:polymorphism: :-863A>C 		RGD PMID:15219383 PMID:19732761 PMID:17348243 RGD:7365073, RGD:7394807, RGD:7394790 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 6:52,425,998...52,495,793
Ensembl chr 6:52,426,010...52,495,793 		JBrowse link
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984 		JBrowse link
G Tshr thyroid stimulating hormone receptor no_association
treatment 		ISO DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
ClinVar Annotator: match by term: Graves disease, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human)
DNA:polymorphism: :pD727E (human)
DNA:SNPs: :multiple
DNA:SNPs:intron:rs179247, rs12101255 (human) 		ClinVar
CTD
RGD		 PMID:1955520 PMID:9385128 PMID:10037069 PMID:17062880 PMID:21841780 More... RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs: :rs731236, rs7975232 (human)
DNA:SNPs: :rs1544410, rs10735810 (human)
DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs1544410, rs7975232 (human)
DNA:polymorphisms, haplotype 		GAD
RGD		 PMID:15118671 PMID:16279845 PMID:16279845 PMID:17506475 PMID:11134121 More... RGD:1331525, RGD:8158053, RGD:8158053, RGD:8157632, RGD:8157628, RGD:8157628, RGD:8157624 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Hyperfunctioning Thyroid Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning, somatic ClinVar PMID:7800007 PMID:8413627 PMID:9253356 PMID:9294132 PMID:9360556 More... NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
Isolated Thyrotropin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: THYROTROPIN DEFICIENCY, ISOLATED | ClinVar Annotator: match by term: Thyrotropin deficiency, isolated ClinVar PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984 		JBrowse link
nonautoimmune hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT ClinVar PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 More... NCBI chr 6:115,681,753...116,059,758
Ensembl chr 6:115,681,712...116,057,167 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO DNA:missense mutation: :2071A>T (p.I691F) (human)
ClinVar Annotator: match by term: HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:1955520 PMID:7124278 PMID:7528344 PMID:7800007 PMID:7920658 More... RGD:8548658 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
selective pituitary thyroid hormone resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION | ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1159077 PMID:1358935 PMID:1400873 PMID:7593433 PMID:7838159 More... NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 ClinVar
OMIM		 PMID:1982519 PMID:7650604 PMID:7847370 PMID:7897626 PMID:7987325 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:50,045,668...50,115,903 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,830...3,318,106 JBrowse link
thyrotoxicosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 IEP protein:increased expression:plasma RGD PMID:19343192 RGD:2311054 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP protein:decreased expression:mitochondrion, brain, kidney, liver RGD PMID:6215275 RGD:2298979 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18941937 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9062474 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        thyroid gland disease 577
          hyperthyroidism 104
            Graves' disease + 69
            Isolated Thyrotropin Deficiency 1
            Plummer's disease 0
            familial gestational hyperthyroidism 2
            nonautoimmune hyperthyroidism 2
            selective pituitary thyroid hormone resistance 1
            thyrotoxicosis + 6
            toxic diffuse goiter 0
paths to the root