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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:Eye Neoplasms
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Accession:DOID:9004059 term browser browse the term
Definition:Tumors or cancer of the EYE.
Synonyms:exact_synonym: eye neoplasm;   neoplasm of eye;   neoplasm of eye proper;   ocular tumor
 narrow_synonym: Melanocytoma of the Eyeball
 primary_id: MESH:D005134
 xref: EFO:0003824;   EFO:1000369

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Eye Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO RGD PMID:21504908 RGD:8547757 NCBI chrNW_004936469:20,743,195...20,811,567
Ensembl chrNW_004936469:20,743,213...20,811,569 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35917945 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,322,198...4,326,562
Ensembl chrNW_004936511:4,322,198...4,329,686 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,763,894...4,775,360
Ensembl chrNW_004936565:4,763,779...4,778,250 		JBrowse link
G Arl11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,686,783...2,687,377 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773 		JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,107,476...8,134,677
Ensembl chrNW_004936511:8,107,756...8,134,683 		JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,415,225...2,536,311
Ensembl chrNW_004936565:2,417,309...2,472,189 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,336,613...2,395,816
Ensembl chrNW_004936565:2,336,744...2,387,195 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,872,142...4,896,449
Ensembl chrNW_004936565:4,871,414...4,881,597 		JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:599,703...624,821
Ensembl chrNW_004936667:599,711...624,999 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,591,851...5,596,998
Ensembl chrNW_004936511:5,591,848...5,600,270 		JBrowse link
G CUNH13orf42 chromosome unknown C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,936,666...3,964,309
Ensembl chrNW_004936565:3,936,666...3,964,309 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,899,245...9,253,024
Ensembl chrNW_004936511:9,061,676...9,253,486 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,082,909...8,105,203
Ensembl chrNW_004936511:8,082,406...8,108,233 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,706,566...3,722,689
Ensembl chrNW_004936565:3,706,538...3,722,802 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,706,788...2,731,453
Ensembl chrNW_004936565:2,706,788...2,731,453 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,058,280...4,106,803
Ensembl chrNW_004936565:4,080,867...4,105,740 		JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,259,066...4,280,501
Ensembl chrNW_004936511:4,258,548...4,283,285 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,154,672...2,312,670
Ensembl chrNW_004936565:2,154,599...2,312,862 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,198,659...4,282,443
Ensembl chrNW_004936565:4,199,195...4,282,443 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,991,568...2,997,592
Ensembl chrNW_004936565:2,991,410...2,997,557 		JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,389,558...4,395,630
Ensembl chrNW_004936511:4,389,755...4,390,738 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:6,992,131...7,292,484
Ensembl chrNW_004936511:6,854,995...7,283,347 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,806,714...7,824,833
Ensembl chrNW_004936511:7,806,708...7,824,992 		JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:10,511,200...10,879,121
Ensembl chrNW_004936511:10,511,192...10,879,146 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G LOC101972150 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:716,802...721,441
Ensembl chrNW_004936667:716,625...721,503 		JBrowse link
G LOC101978403 histone-lysine N-methyltransferase SETDB2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,536,623...2,607,824
Ensembl chrNW_004936565:2,591,305...2,606,130
Ensembl chrNW_004936565:2,591,305...2,606,130 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248 		JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,321,799...2,326,871
Ensembl chrNW_004936565:2,323,966...2,328,535 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,977,950...4,248,959
Ensembl chrNW_004936511:3,978,246...4,249,234 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,134,607...8,149,923 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,063,630...2,123,214
Ensembl chrNW_004936511:2,063,144...2,124,037 		JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,840,416...4,863,349
Ensembl chrNW_004936565:4,840,894...4,863,301 		JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,779,843...4,836,093
Ensembl chrNW_004936565:4,779,933...4,836,093 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,800,466...2,847,896
Ensembl chrNW_004936511:2,800,425...2,848,628 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:905,556...923,105
Ensembl chrNW_004936667:907,473...922,291 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936820:764,016...860,325
Ensembl chrNW_004936820:765,100...861,667 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:326,349...332,242 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936553:424,425...971,388
Ensembl chrNW_004936553:424,988...1,272,450 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,860,552...8,082,850
Ensembl chrNW_004936511:7,860,590...8,081,525 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,175,192...2,252,955
Ensembl chrNW_004936511:2,175,374...2,249,195 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,750,565...1,789,779
Ensembl chrNW_004936565:1,750,105...1,789,737 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,696,150...3,794,031
Ensembl chrNW_004936511:3,694,543...3,794,086 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,167,734...4,198,573
Ensembl chrNW_004936565:4,168,895...4,197,662 		JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,615,251...3,671,429
Ensembl chrNW_004936511:3,614,303...3,671,847 		JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936696:1,447,644...1,452,612
Ensembl chrNW_004936696:1,449,687...1,451,777 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:1,452,421...1,458,031 JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,911,523...2,939,151
Ensembl chrNW_004936565:2,908,169...2,939,232 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,313,150...1,355,693
Ensembl chrNW_004936565:1,313,150...1,355,693 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:556,555...588,585
Ensembl chrNW_004936667:556,533...588,160 		JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,789,683...5,858,930
Ensembl chrNW_004936511:5,673,368...5,856,631 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:11,258,898...11,348,522 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054 		JBrowse link
G Tmem272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,976,681...2,989,036
Ensembl chrNW_004936565:2,976,729...2,989,088 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,524,425...5,581,156
Ensembl chrNW_004936511:5,522,965...5,581,334 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,898,969...4,921,411 JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,375,012...4,527,259
Ensembl chrNW_004936565:4,375,462...4,520,691 		JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Hereditary retinoblastoma ClinVar PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
malignant choroid melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Choroidal melanoma ClinVar PMID:25741868 NCBI chrNW_004936624:4,010,912...4,029,520
Ensembl chrNW_004936624:4,010,753...4,030,374 		JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM		 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 More... NCBI chrNW_004936677:2,248,153...2,290,802
Ensembl chrNW_004936677:2,248,903...2,289,151 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chrNW_004936631:2,649,792...2,686,430
Ensembl chrNW_004936631:2,648,381...2,686,434 		JBrowse link
ocular melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936744:344,356...359,086
Ensembl chrNW_004936744:344,356...359,044 		JBrowse link
Ocular Paraneoplastic Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO RGD PMID:10586938 RGD:10059329 NCBI chrNW_004936542:7,577,192...7,581,598
Ensembl chrNW_004936542:7,577,149...7,581,923 		JBrowse link
retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadm2 cell adhesion molecule 2 ISO mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chrNW_004936610:3,304,556...4,297,745
Ensembl chrNW_004936610:3,305,551...3,598,837 		JBrowse link
G Dicer1 dicer 1, ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chrNW_004936583:4,085,802...4,145,621 JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Ifnb1 interferon beta 1 ameliorates ISO RGD PMID:19306089 RGD:401854248 NCBI chrNW_004936652:2,736,270...2,736,833 JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More... NCBI chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013 		JBrowse link
G Kdm1b lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chrNW_004936552:3,921,217...3,964,281
Ensembl chrNW_004936552:3,921,490...3,962,648 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 More... NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936495:8,728,941...8,755,742
Ensembl chrNW_004936495:8,728,940...8,755,799 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More... NCBI chrNW_004936565:1,397,434...1,414,674
Ensembl chrNW_004936565:1,396,088...1,415,248 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More... NCBI chrNW_004936474:26,484,316...26,492,652
Ensembl chrNW_004936474:26,481,211...26,493,019 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma OMIM
ClinVar		 PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More... NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human protein and tumor xenograft in a mouse model RGD PMID:19832843 RGD:8554870 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Sncg synuclein gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chrNW_004936804:16,869...21,684
Ensembl chrNW_004936804:16,614...21,969 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
trilateral retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Trilateral retinoblastoma ClinVar PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More... NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
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 ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma		 RGD
OMIM
ClinVar		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806 		JBrowse link
G Birc7 baculoviral IAP repeat containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936514:10,618,347...10,622,906
Ensembl chrNW_004936514:10,618,289...10,622,931 		JBrowse link
G Brca2 BRCA2 DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089179 PMID:33288675 NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793026 NCBI chrNW_004936624:4,010,912...4,029,520
Ensembl chrNW_004936624:4,010,753...4,030,374 		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... NCBI chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170 		JBrowse link
G Igf1 insulin like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chrNW_004936594:1,760,924...1,771,022
Ensembl chrNW_004936594:1,760,853...1,770,765 		JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chrNW_004936567:1,782,056...1,860,861
Ensembl chrNW_004936567:1,781,995...1,863,461 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G LOC101971998 guanine nucleotide-binding protein G(q) subunit alpha ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chrNW_004936503:13,098,517...13,276,106
Ensembl chrNW_004936503:13,099,558...13,276,152 		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 chrNW_004936602:968,159...980,452
Ensembl chrNW_004936602:956,784...967,884 		JBrowse link
G Mcam melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462 		JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:31186267 NCBI chrNW_004936485:9,991,731...10,353,231
Ensembl chrNW_004936485:9,991,299...10,353,123 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chrNW_004936619:1,748,337...1,751,748 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Sf3b1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chrNW_004936506:1,749,591...1,790,860
Ensembl chrNW_004936506:1,749,563...1,791,739 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936744:344,356...359,086
Ensembl chrNW_004936744:344,356...359,044 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      eye disease 3213
        Eye Neoplasms 111
          Conjunctival Neoplasms + 1
          Familial Melanoma, Malignant Intraocular 0
          Ocular Paraneoplastic Syndromes 1
          Orbital Neoplasms + 0
          Retinal Neoplasms + 86
          Uveal Neoplasms + 21
          eyelid benign neoplasm + 2
          ocular cancer + 105
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              Eye Neoplasms 111
                Conjunctival Neoplasms + 1
                Familial Melanoma, Malignant Intraocular 0
                Ocular Paraneoplastic Syndromes 1
                Orbital Neoplasms + 0
                Retinal Neoplasms + 86
                Uveal Neoplasms + 21
                eyelid benign neoplasm + 2
                ocular cancer + 105
paths to the root