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: eye adnexa disease
Accession: DOID:9001010
browse the term
Definition: This encompasses disorders of the eyelids, tear drainage and orbital tissues.
Synonyms: exact_synonym: disorder of ocular adnexa; eye adnexa disorder; ocular adnexa disease
xref: EFO:0009546
For additional species annotation, visit the
Alliance of Genome Resources .
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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:25944381 PMID:28492532 PMID:32581362 More...
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Enophthalmos
ClinVar
PMID:25741868
NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Cat
catalase
treatment
ISO
protein:decreased activity:blood: protein:increased activity:plasma:
RGD
PMID:20394549 PMID:15158621
RGD:9071200 , RGD:9086875
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:18284633
RGD:8549459
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icam1
intercellular adhesion molecule 1
ISO
DNA:polymorphism: :c.1405A>G (human)
RGD
PMID:14557478
RGD:8158124
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression,increased excretion:orbital tissue:
RGD
PMID:22159761
RGD:8548854
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-819C>T (human) protein:increased expression:serum
RGD
PMID:21067483 PMID:11753760
RGD:7364859 , RGD:7365083
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il18
interleukin 18
treatment
ISO
RGD
PMID:12689659
RGD:8655878
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8444271
RGD:7794734
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
RGD
PMID:2786308
RGD:8662939
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Kif1a
kinesin family member 1A
ISO
RGD
PMID:26451909
RGD:12911230
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:orbital fat (human)
RGD
PMID:14588098
RGD:8552818
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)
RGD
PMID:17608818
RGD:7829763
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17614770
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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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 chr12:19,601,272...19,611,657
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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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 chr11:77,721,912...77,735,564
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human)
RGD
PMID:17143563
RGD:8548467
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446963
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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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 chr14:96,806,664...96,835,273
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Btnl2
butyrophilin-like 2
onset
ISO
DNA:SNP: :rs17577980(human)
RGD
PMID:24684463
RGD:9685042
NCBI chr20:4,490,904...4,502,557
Ensembl chr20:4,489,517...4,503,341
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C4a
complement C4A
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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C4b
complement C4B (Chido blood group)
ISO
RGD
PMID:21943165
RGD:5688264
NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
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Cat
catalase
treatment
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:12919155
RGD:9068908
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 4:157,668,878...157,695,366
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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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8875745
RGD:8547747
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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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 PMID:20352109 PMID:14986169 PMID:15785242 PMID:12780750 PMID:10369864 PMID:9672157 More...
RGD:2302000 , RGD:11352245 , RGD:7421517 , RGD:7421515 , RGD:7421507 , RGD:7421505 , RGD:1300388 , RGD:2302001
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
associated with Herpesviridae Infections
RGD
PMID:19903800
RGD:5147671
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dnmt1
DNA methyltransferase 1
treatment
ISO
DNA:polymorphism: :32204 G>A(human)
RGD
PMID:23039890
RGD:9588624
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:thyroid gland, thyrocyte (human)
RGD
PMID:11422195
RGD:8662820
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fkbp1b
FKBP prolyl isomerase 1B
ISO
RGD
PMID:15497458
RGD:1580387
NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
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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 chr14:18,632,135...18,667,567
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:17980001
RGD:8547807
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 3:47,227,364...47,275,456
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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 PMID:2125901 More...
RGD:8142372 , RGD:8157604 , RGD:8157599 , RGD:8142393 , RGD:8142373
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA,protein:increased expression:thyroid gland:
RGD
PMID:9857239
RGD:8548837
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: increased expression: blood: T cells and B cells
RGD
PMID:18832736
RGD:5686433
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
DNA:SNP:promoter:-511C>T (human)
RGD
PMID:16025481 PMID:2674184
RGD:7401177 , RGD:7401207
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:2279527
RGD:8662947
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il3
interleukin 3
ISO
DNA: SNP: : rs40401
RGD
PMID:20332709
RGD:5686901
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:23109646
RGD:8693341
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Lta
lymphotoxin alpha
no_association
ISO
DNA:polymorphism
RGD
PMID:1346144 PMID:7928443
RGD:8548778 , RGD:8548790
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T(human)
RGD
PMID:20941748
RGD:7387246
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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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 4:146,474,750...146,484,766
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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 9:94,418,791...94,431,937
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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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Rnaset2
ribonuclease T2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21841780
NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms::HLA-DQA1*0501;
RGD
PMID:8706297
RGD:8547558
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:3,314,984...3,318,037
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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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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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 chr12:19,601,272...19,611,657
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16195404
RGD:7207875
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Stat6
signal transducer and activator of transcription 6
ISO
RGD
PMID:15117875
RGD:7244137
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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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 PMID:18656705 More...
RGD:8548606 , RGD:8548645 , RGD:8548644 , RGD:8548643 , RGD:8548630
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16372246
NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
G
Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.p.R72P(human)
RGD
PMID:17980001
RGD:8547807
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Tpo
thyroid peroxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
G
Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33132244
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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 RGD
PMID:1955520 PMID:21841780 PMID:21642385 PMID:9528975 PMID:21155717 PMID:24518168 PMID:7828357 PMID:11887032 PMID:23538203 PMID:19244275 PMID:21124799 More...
RGD:8548654 , RGD:8548669 , RGD:8548665 , RGD:8548664 , RGD:8548663 , RGD:8548661 , RGD:8548657 , RGD:8548656 , RGD:8548655
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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 More...
RGD:1331525 , RGD:8158053 , RGD:8158053 , RGD:8157632 , RGD:8157628 , RGD:8157628 , RGD:8157624
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
ISO
DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)
RGD
PMID:22771446
RGD:7483621
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Exophthalmos
ClinVar
PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 PMID:26046366 PMID:28492532 More...
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
G
Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Proptosis
ClinVar
PMID:25741868 PMID:30905398
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia DNA:deletion, snps, missense mutations:multiple (human)
OMIM ClinVar RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:24033266 PMID:25741868 PMID:27862258 PMID:28492532 PMID:17924334 More...
RGD:11560486
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all