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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:Graves' disease
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Accession:DOID:12361 term browser browse the term
Definition:An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. (DO)
Synonyms:exact_synonym: Basedow disease;   Basedow's disease;   Basedows disease;   GRD;   Grave's disease;   Graves disease;   Graves hyperthyroidism;   autoimmune hyperthyroidism;   exophthalmic goiter;   exophthalmic goiters
 related_synonym: GRD1;   GRD2;   GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2;   GRDX2;   Graves disease, susceptibility to, 1;   Graves disease, susceptibility to, 2;   Graves disease, susceptibility to, X-linked 1;   Hyperthyroidism, Autoimmune Graves Disease, Susceptibility To, 1
 primary_id: MESH:D006111
 alt_id: OMIM:275000;   OMIM:300351;   OMIM:603372;   OMIM:603388
 xref: EFO:0004237;   ICD10CM:E05.0;   NCI:C3071
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 IEP protein:increased expression:serum
associated with thyroid diseases; protein:increased expression:serum		 RGD PMID:18997483 PMID:20583542 RGD:5686818, RGD:5686857 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADRB2 adrenoceptor beta 2 susceptibility IAGP DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) RGD PMID:17143563 RGD:8548467 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944 		JBrowse link
G B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 2:62,196,115...62,224,731
Ensembl chr 2:62,196,115...62,224,731 		JBrowse link
G BTNL2 butyrophilin like 2 onset IAGP DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP RGD PMID:21943165 RGD:5688264 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP RGD PMID:21943165 RGD:5688264 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CAT catalase treatment IEP protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CD4 CD4 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CD40 CD40 molecule onset
no_association		 IAGP DNA:SNP:5' utr:-1C>T (human) RGD PMID:12593727 PMID:18755875 PMID:15307939 RGD:8547766, RGD:8547778, RGD:8547769 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand treatment IMP RGD PMID:8875745 RGD:8547747 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility
no_association		 IAGP
EXP		 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:9672157 PMID:10404810 More... RGD:2302001, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:2302000, RGD:1300388 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DNMT1 DNA methyltransferase 1 treatment IAGP DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G ESR2 estrogen receptor 2 susceptibility
no_association		 IAGP DNA:snp:intron:IVS8G>A (rs4986938) (human)
DNA:repeat		 RGD PMID:17941906 PMID:11180758 RGD:8693348, RGD:10045850 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FCRL3 Fc receptor like 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:157,676,481...157,700,956
Ensembl chr 1:157,674,321...157,700,769 		JBrowse link
G FKBP1B FKBP prolyl isomerase 1B IAGP RGD PMID:15497458 RGD:1580387 NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681 		JBrowse link
G GC GC vitamin D binding protein susceptibility IAGP
EXP		 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 chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility
onset		 IAGP DNA:polymorphism:cds:HLA-B*46 (human)
DNA:polymorphism:cds:HLA-B39 (human)
DNA:polymorphism:cds:HLA-B8 (human)
DNA:polymorphism, haplotype:cds:HLA-B8 (human)
DNA:polymorphism, 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 chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP 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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HLA-DRB3 major histocompatibility complex, class II, DR beta 3 IAGP RGD PMID:11678832 RGD:8548807
G ICAM1 intercellular adhesion molecule 1 no_association
onset		 IEP
IAGP		 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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma susceptibility
treatment		 IAGP
EXP
ISO
IEP		 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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 IEP mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP protein: increased expression: blood: T cells and B cells RGD PMID:18832736 RGD:5686433 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL10 interleukin 10 no_association IAGP
IEP		 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 chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 disease_progression
susceptibility		 IAGP 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 chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A susceptibility IAGP
EXP		 DNA:snp:intron:IVS1+18G>A (rs3819025) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:33132244 PMID:22816799 RGD:9068423 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 no_association IEP
IAGP		 protein:increased expression:serum
DNA:SNPs:promoter, exon:multiple		 RGD PMID:12689659 PMID:16571086 RGD:8655878, RGD:8655916 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1B interleukin 1 beta IAGP
IEP		 DNA:SNP:promoter:-511C>T (human) RGD PMID:16025481 PMID:2674184 RGD:7401177, RGD:7401207 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:2279527 RGD:8662947 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL23R interleukin 23 receptor susceptibility
no_association		 IAGP DNA:SNP: :rs7530511(human)
DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)		 RGD PMID:18073300 PMID:19021011 RGD:8549554, RGD:8549564 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL3 interleukin 3 IAGP DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G IL4 interleukin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 disease_progression IAGP
EXP
IEP		 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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor disease_progression IEP
EXP		 protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16372246 PMID:12818091 RGD:7829750 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G ITGB3 integrin subunit beta 3 IEP RGD PMID:23109646 RGD:8693341 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LTA lymphotoxin alpha no_association IAGP DNA:polymorphism RGD PMID:1346144 PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:21465496 RGD:8657376 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PDCD1 programmed cell death 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP
EXP		 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 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RNASET2 ribonuclease T2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G SERPINE1 serpin family E member 1 treatment IDA
IEP		 protein:increased expression:tears (human) RGD PMID:11980614 PMID:22385289 RGD:8547709, RGD:8547756 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TG thyroglobulin treatment
no_association		 IDA
EXP
IEP
IAGP		 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 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TP53 tumor protein p53 susceptibility IAGP DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TPO thyroid peroxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:33132244 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G TSHR thyroid stimulating hormone receptor no_association
treatment		 IAGP
EXP
IMP
IDA
ISO		 DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human)
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)		 CTD
RGD		 PMID:1955520 PMID:21841780 PMID:21642385 PMID:9528975 PMID:21155717 More... RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G VDR vitamin D receptor no_association IEA
IAGP		 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 chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IAGP DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) RGD PMID:22771446 RGD:7483621 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
Graves ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment IEP protein:decreased activity:blood:
protein:increased activity:plasma:		 RGD PMID:20394549 PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 severity
no_association		 IAGP
IEP		 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 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IAGP DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma IEP RGD PMID:8444271 RGD:7794734 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 IEP mRNA,protein:increased expression,increased excretion:orbital tissue: RGD PMID:22159761 RGD:8548854 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL10 interleukin 10 IAGP
IEP		 DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum		 RGD PMID:21067483 PMID:11753760 RGD:7364859, RGD:7365083 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL18 interleukin 18 treatment IEP RGD PMID:12689659 RGD:8655878 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha IEP RGD PMID:8444271 RGD:7794734 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1RN interleukin 1 receptor antagonist severity
susceptibility		 IEP
IAGP		 protein:increased expression:serum (human)
DNA:snp:exon:11100 C>T (rs315952) (human)		 RGD PMID:12186498 PMID:19702713 RGD:7387296, RGD:8549808 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:2786308 RGD:8662939 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL23R interleukin 23 receptor no_association
susceptibility		 IAGP DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)		 RGD PMID:22663548 PMID:18073300 RGD:7421521, RGD:8549554 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL3 interleukin 3 IAGP DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G KIF1A kinesin family member 1A IEP RGD PMID:26451909 RGD:12911230 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IEP mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) RGD PMID:17608818 RGD:7829763 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SCD stearoyl-CoA desaturase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826 		JBrowse link
G SERPINE1 serpin family E member 1 severity IEP associated with Graves Disease;protein:increased expression:tears (human) RGD PMID:22385289 RGD:8547756 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP
IEP		 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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TSHR thyroid stimulating hormone receptor severity IAGP
EXP
IDA		 DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:31705858 PMID:22673349 PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      endocrine system disease 7753
        autoimmune disease of endocrine system 419
          Graves' disease 69
            Graves ophthalmopathy 21
Path 2
Term Annotations click to browse term
  disease 35754
    Pathological Conditions, Signs and Symptoms 21490
      Signs and Symptoms 16343
        Neurologic Manifestations 15411
          sensory system disease 9761
            eye disease 4963
              eye adnexa disease 106
                orbital disease 106
                  Graves' disease 69
                    Graves ophthalmopathy 21
paths to the root