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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:uveal melanoma
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Accession:DOID:6039 term browser browse the term
Definition:A uveal cancer that has_material_basis_in uvea pigment cells. (DO)
Synonyms:exact_synonym: melanoma of the uvea;   melanoma of uvea
 narrow_synonym: CHOROIDAL MELANOMA;   UVM1;   UVM2;   uveal melanoma, susceptibility to, 1;   uveal melanoma, susceptibility to, 2
 primary_id: MESH:C536494
 alt_id: OMIM:155720;   OMIM:606660;   OMIM:606661
 xref: EFO:1000616;   HP:0012054;   NCI:C7712;   ORDO:39044
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
uveal melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 disease_progression
susceptibility		 ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma		 RGD
ClinVar
OMIM		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CRP C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089179 PMID:33288675 NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551 		JBrowse link
G DLA88 MHC class I DLA-88 severity ISO protein:increased expression:tumor of uvea (human) RGD PMID:9286277 RGD:7364941 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793026 NCBI chr  X:16,081,335...16,102,627
Ensembl chr  X:16,081,392...16,099,142 		JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More...
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065 		JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 9:4,037,307...4,076,119
Ensembl chr 9:4,037,439...4,076,123 		JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386 		JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 ClinVar
OMIM		 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 More... NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
G MCAM melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:31186267 NCBI chr24:12,750,631...13,169,697
Ensembl chr24:12,752,083...13,169,745 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of cellular proliferation 7264
      Neoplasms by Histologic Type 5064
        Nevi and Melanomas 385
          melanoma 379
            uveal melanoma 22
              choroid epithelioid cell melanoma 0
              choroid spindle cell melanoma 0
              iris spindle cell melanoma + 0
              mixed cell uveal melanoma + 0
              necrotic uveal melanoma + 0
              posterior uveal melanoma 0
              uveal epithelioid cell melanoma + 0
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Somatosensory Disorders 320
              sensory system cancer 109
                ocular cancer 109
                  uveal cancer 22
                    uveal melanoma 22
                      choroid epithelioid cell melanoma 0
                      choroid spindle cell melanoma 0
                      iris spindle cell melanoma + 0
                      mixed cell uveal melanoma + 0
                      necrotic uveal melanoma + 0
                      posterior uveal melanoma 0
                      uveal epithelioid cell melanoma + 0
paths to the root