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.
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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 PMID:24243779 PMID:24728327 PMID:25147369 PMID:25231345 PMID:25687217 PMID:25741868 PMID:25974357 PMID:26467025 PMID:26556299 PMID:26683624 PMID:26719535 PMID:28062663 PMID:28492532 PMID:28551647 PMID:28793149 PMID:29625052 PMID:30477459 PMID:30883995 PMID:31034483 PMID:31186267 PMID:32002398 PMID:33240524 More...
RGD:9586037
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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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
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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
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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
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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
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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
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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
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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 PMID:22808163 PMID:24141786 PMID:25157968 PMID:25741868 PMID:26619011 More...
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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 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:25157968 More...
NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065
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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
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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
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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
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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
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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 PMID:35460607 More...
NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881
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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
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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
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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
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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
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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
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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
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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
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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
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