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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:autoimmune disease of eyes, ear, nose and throat
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Accession:DOID:0060030 term browser browse the term
Definition:An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)


show annotations for term's descendants           Sort by:
autoimmune uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 treatment ISO human recombinant protein in a rat model RGD PMID:28011398 RGD:150520199 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:31228813 RGD:41404699 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		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:increased activity:plasma:
protein:decreased activity:blood:		 RGD PMID:15158621 PMID:20394549 RGD:9071200 RGD:9086875 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:orbital fat (human) RGD PMID:18284633 RGD:8549459 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 severity
no_association		 ISO protein:increased expression:serum:
associated with Graves Disease; DNA:SNP:promoter:-318C>T (human)		 RGD PMID:16893393 PMID:19734241 PMID:22663548 RGD:7421511 RGD:7421521 RGD:7421523 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:polymorphism: :c.1405A>G (human) RGD PMID:14557478 RGD:8158124 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:8444271 RGD:7794734 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		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 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-819C>T (human)
protein:increased expression:serum		 RGD PMID:11753760 PMID:21067483 RGD:7364859 RGD:7365083 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12689659 RGD:8655878 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8444271 RGD:7794734 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
severity		 ISO DNA:snp:exon:11100 C>T (rs315952) (human)
protein:increased expression:serum (human)		 RGD PMID:12186498 PMID:19702713 RGD:7387296 RGD:8549808
G IL2 interleukin 2 ISO RGD PMID:2786308 RGD:8662939 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL23R interleukin 23 receptor no_association
susceptibility		 ISO DNA:SNPs: :rs10889677,rs2201841(human)
DNA:SNPs: :rs2201841,rs10889677(human)		 RGD PMID:18073300 PMID:22663548 RGD:7421521 RGD:8549554 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G KIF1A kinesin family member 1A ISO RGD PMID:26451909 RGD:12911230 NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA:increased expression:orbital fat (human) RGD PMID:14588098 RGD:8552818 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17614770 NCBI chr14:111,461,560...111,478,033
Ensembl chr14:111,461,569...111,478,020 		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 chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-863C>A (human)		 RGD PMID:8444271 PMID:15219383 PMID:16191343 RGD:12904066 RGD:7365073 RGD:7794734 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TSHR thyroid stimulating hormone receptor severity ISO DNA:SNP:intron:rs179247 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20237164 PMID:22673349 PMID:31705858 RGD:8548662 RGD:8548673 NCBI chr 7:103,768,260...103,925,777
Ensembl chr 7:103,768,296...103,925,922 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      autoimmune disease of eyes, ear, nose and throat 22
        Graves ophthalmopathy 20
        Mikulicz disease 0
        autoimmune uveitis 2
        sympathetic ophthalmia 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Immune & Inflammatory Diseases 4952
        immune system disease 4289
          primary immunodeficiency disease 3701
            autoimmune disease 1973
              autoimmune disease of the nervous system 553
                autoimmune disease of eyes, ear, nose and throat 22
                  Graves ophthalmopathy 20
                  Mikulicz disease 0
                  autoimmune uveitis 2
                  sympathetic ophthalmia 0
paths to the root