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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:orbital disease
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Accession:DOID:930 term browser browse the term
Definition:Diseases of the bony orbit and contents except the eyeball.
Synonyms:exact_synonym: orbital diseases
 primary_id: MESH:D009916
 xref: ICD10CM:H05.9;   ICD9CM:376.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
enophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:7837387, PMID:8644702, PMID:9663595, PMID:12393792, PMID:12566964, PMID:15024741, PMID:15383404, PMID:15876480, PMID:18763032, PMID:18783588, PMID:20373018, PMID:21232165, PMID:21989927, PMID:23199084, PMID:23683081, PMID:24033266, PMID:24312913, PMID:24504028, PMID:25330149, PMID:25682074, PMID:25741868, PMID:25948282, PMID:26083025, PMID:26219728, PMID:26295337, PMID:26467025, PMID:26852130, PMID:27741520, PMID:28324225, PMID:28492532, PMID:29335924, PMID:30311386, PMID:30606148 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25167861, PMID:25326635, PMID:25641759, PMID:25741868, PMID:25920557, PMID:25944381, PMID:28492532, PMID:32581362 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Enophthalmos ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
exophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Proptosis ClinVar PMID:30311386 NCBI chr15:39,955,689...40,488,737
Ensembl chr15:40,000,322...40,428,800
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Proptosis ClinVar PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
Graves Ophthalmopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO protein:decreased activity:blood:
protein:increased activity:plasma:
RGD PMID:20394549, PMID:15158621 RGD:9071200, RGD:9086875 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifng interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Kif1a kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tshr thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:31705858, PMID:22673349, PMID:20237164 RGD:8548662, RGD:8548673 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:107,592,336...107,617,189
Ensembl chr14:107,592,336...107,617,161
JBrowse link
G Btnl2 butyrophilin-like 2 onset ISO DNA:SNP: :rs17577980(human) RGD PMID:24684463 RGD:9685042 NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
JBrowse link
G C4a complement C4A ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:2,651,599...2,678,183
Ensembl chr20:2,651,599...2,678,141
JBrowse link
G C4b complement C4B (Chido blood group) ISO RGD PMID:21943165 RGD:5688264 NCBI chr20:4,302,344...4,316,752
Ensembl chr20:4,302,344...4,316,715
JBrowse link
G Cat catalase treatment ISO protein:decreased activity:erythrocyte: RGD PMID:12919155 RGD:9068908 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8875745 RGD:8547747 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:30311386 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
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 PMID:19731979, PMID:21841780, PMID:23104008, PMID:9861324, PMID:10404810, PMID:20352109, PMID:14986169, PMID:15785242, PMID:12780750, PMID:9672157, PMID:10369864 RGD:2302000, RGD:11352245, RGD:7421517, RGD:7421515, RGD:7421507, RGD:7421505, RGD:2302001, RGD:1300388 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Herpesviridae Infections RGD PMID:19903800 RGD:5147671 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dnmt1 DNA methyltransferase 1 treatment ISO DNA:polymorphism: :32204 G>A(human) RGD PMID:23039890 RGD:9588624 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:thyroid gland, thyrocyte (human) RGD PMID:11422195 RGD:8662820 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISO RGD PMID:15497458 RGD:1580387 NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:12161610, PMID:19429596, PMID:30311386 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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
OMIM
PMID:12050214, PMID:16868893, PMID:12050214 RGD:5509883, RGD:5509886 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:17980001 RGD:8547807 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17535987 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO DNA:microsatellite repeats:intron:
DNA:polymorphism:cds:+874A>T(human)
DNA:repeats:intron:
protein:increased expression:serum:
RGD PMID:9848715, PMID:15544617, PMID:16970687, PMID:15068623, PMID:2125901 RGD:8142372, RGD:8157604, RGD:8157599, RGD:8142393, RGD:8142373 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:thyroid gland: RGD PMID:9857239 RGD:8548837 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snp:intron:IVS1+18G>A (rs3819025) (human) RGD PMID:22816799 RGD:9068423 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2279527 RGD:8662947 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il3 interleukin 3 ISO DNA: SNP: : rs40401 RGD PMID:20332709 RGD:5686901 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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 PMID:16372246, PMID:21235536, PMID:12818091 RGD:7829719, RGD:7829750 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:16372246, PMID:12818091 RGD:7829750 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:23109646 RGD:8693341 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Lta lymphotoxin alpha no_association ISO DNA:polymorphism RGD PMID:1346144, PMID:7928443 RGD:8548778, RGD:8548790 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:20941748 RGD:7387246 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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 PMID:21190368, PMID:15504986, PMID:17608818, PMID:18687223 RGD:6484538, RGD:7829763, RGD:7829738 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Rnaset2 ribonuclease T2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841780 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms::HLA-DQA1*0501; RGD PMID:8706297 RGD:8547558 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16195404 RGD:7207875 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:15117875 RGD:7244137 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tg thyroglobulin treatment
no_association
ISO protein:increased expression:serum
DNA:SNP:exon
DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)
DNA:SNPs:exon:multiple
RGD PMID:14636875, PMID:95586, PMID:17550957, PMID:22662162, PMID:18656705 RGD:8548606, RGD:8548645, RGD:8548644, RGD:8548643, RGD:8548630 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16372246 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
G Tp53 tumor protein p53 susceptibility ISO DNA:polymorphism:cds:p.p.R72P(human) RGD PMID:17980001 RGD:8547807 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tshr thyroid stimulating hormone receptor no_association
treatment
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
OMIM
PMID:1955520, PMID:21841780, PMID:21642385, PMID:9528975, PMID:21155717, PMID:24518168, PMID:7828357, PMID:11887032, PMID:23538203, PMID:19244275, PMID:21124799 RGD:8548654, RGD:8548669, RGD:8548665, RGD:8548664, RGD:8548663, RGD:8548661, RGD:8548657, RGD:8548656, RGD:8548655 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Tshr-ps1 thyroid stimulating hormone receptor, pseudogene 1 ISO RGD PMID:23538203 RGD:8548657 NCBI chr 4:93,447,412...93,448,194 JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Graves disease ClinVar PMID:30311386 NCBI chr 3:63,565,160...63,837,815 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, PMID:11134121, PMID:16100768 RGD:1331525, RGD:8158053, RGD:8158053, RGD:8157632, RGD:8157628, RGD:8157628, RGD:8157624 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by OMIM:259775
DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: Raine syndrome
OMIM
ClinVar
PMID:2020859, PMID:12868469, PMID:14564151, PMID:17924334, PMID:19250384, PMID:20825432, PMID:24033266, PMID:28492532, PMID:17924334 RGD:11560486 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        orbital disease 71
          Orbital Myositis 0
          Orbital Neoplasms + 0
          Pott Puffy Tumor 0
          Retrobulbar Hemorrhage 0
          acute orbital inflammation + 0
          chronic orbital inflammation + 0
          constant exophthalmos 0
          endocrine exophthalmos + 0
          enophthalmos 3
          exophthalmos + 68
          intermittent proptosis 0
          lateral displacement of eye 0
          orbital cellulitis 0
          orbital cyst 0
          orbital plasma cell granuloma 0
          pulsating exophthalmos 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            orbital disease 71
              Orbital Myositis 0
              Orbital Neoplasms + 0
              Pott Puffy Tumor 0
              Retrobulbar Hemorrhage 0
              acute orbital inflammation + 0
              chronic orbital inflammation + 0
              constant exophthalmos 0
              endocrine exophthalmos + 0
              enophthalmos 3
              exophthalmos + 68
              intermittent proptosis 0
              lateral displacement of eye 0
              orbital cellulitis 0
              orbital cyst 0
              orbital plasma cell granuloma 0
              pulsating exophthalmos 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.