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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 chr 3:63,387,378...63,506,980
Ensembl chr 3:63,387,381...63,477,884 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:eye (mouse) RGD PMID:18958307 RGD:8549483 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35917945 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		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 chr15:86,286,531...86,295,803
Ensembl chr15:86,286,579...86,295,687 		JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,642,979...76,654,052
Ensembl chr16:76,646,795...76,654,040 		JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,659,404...39,661,651
Ensembl chr15:39,656,050...39,664,105 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,654,725...76,726,092
Ensembl chr16:76,653,660...76,728,801 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,205,467...82,243,499
Ensembl chr15:82,205,697...82,244,052 		JBrowse link
G C15h13orf42 similar to human chromosome 13 open reading frame 42 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:40,852,879...40,877,320
Ensembl chr15:40,854,229...40,876,536 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,782,778...37,885,191
Ensembl chr15:37,782,870...37,919,742 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,739,795...76,745,019
Ensembl chr16:76,738,323...76,745,869 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,902,789...37,934,853
Ensembl chr15:37,886,258...37,931,920 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,542,114...76,567,297
Ensembl chr16:76,542,104...76,567,352 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,308,286...86,321,679
Ensembl chr 2:67,620,667...67,622,952
Ensembl chr15:67,620,667...67,622,952 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,450,617...61,475,382
Ensembl chr15:61,450,450...61,475,350 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,882,069...84,889,124
Ensembl chr15:84,882,548...84,889,194 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,599,043...54,638,314
Ensembl chr15:54,598,818...54,713,597 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,936,063...81,317,746
Ensembl chr15:80,936,063...81,317,627 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:68,951,992...69,421,623
Ensembl chr15:68,951,989...69,421,552 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,231,922...82,258,299
Ensembl chr15:82,231,283...82,258,333 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:40,655,563...40,671,759
Ensembl chr15:40,655,563...40,671,759 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,684,140...39,707,537
Ensembl chr15:39,684,140...39,707,537 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:40,975,789...41,031,069
Ensembl chr15:40,975,877...41,029,628 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,321,504...86,341,387
Ensembl chr15:86,321,504...86,341,387 		JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,099,510...54,276,963
Ensembl chr15:54,099,510...54,276,407 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,080,584...41,224,350
Ensembl chr15:41,109,125...41,197,519 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,948,920...40,020,937 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,214,786...86,220,725
Ensembl chr15:86,214,840...86,224,539 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,037,548...83,469,998
Ensembl chr15:83,045,463...83,670,640 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,472,081...82,487,267
Ensembl chr15:82,472,065...82,487,262 		JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,106,164...79,550,684
Ensembl chr15:79,106,164...79,550,684 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,712,375...39,786,127
Ensembl chr15:39,712,381...39,786,319 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,981,689...85,184,554
Ensembl chr15:84,981,735...85,184,551 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,826,110...54,827,919
Ensembl chr15:54,823,717...54,978,783 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,106,079...55,116,354
Ensembl chr15:55,105,998...55,116,429 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,352,061...86,590,126
Ensembl chr15:86,352,061...86,590,325 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,195,128...82,205,436
Ensembl chr15:82,195,128...82,205,436 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,394,548...88,500,881
Ensembl chr15:88,395,032...88,503,600 		JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,569,465...76,594,921
Ensembl chr16:76,569,496...76,594,921 		JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,597,857...76,641,113
Ensembl chr16:76,597,747...76,641,832 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,117,312...55,123,983 JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,684,022...87,723,342
Ensembl chr15:87,684,025...87,723,342 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,790,889...61,838,773
Ensembl chr15:61,671,271...61,838,764 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:66,631,549...66,725,007
Ensembl chr15:66,633,142...66,722,105 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,834,042...70,840,298
Ensembl chr15:70,834,042...70,840,298 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,607,521...61,612,090
Ensembl chr15:61,607,521...61,612,097 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,748,472...76,646,644
NCBI chr15:76,078,024...76,127,778
Ensembl chr15:75,749,278...76,645,302 		JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,568,090...37,592,490
Ensembl chr15:37,568,090...37,591,016 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,258,243...82,427,546
Ensembl chr15:82,258,468...82,427,548 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,668,328...87,674,643
Ensembl chr15:87,668,328...87,674,643 		JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:123,123,877...123,132,004 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,299,378...88,379,365
Ensembl chr15:88,301,436...88,378,686 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,430,453...37,477,920
Ensembl chr15:37,435,070...37,480,803 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,729,367...54,774,004
Ensembl chr15:54,729,332...54,793,313 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,754,595...86,871,200
Ensembl chr15:86,754,373...86,871,195 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,084,819...41,109,006
Ensembl chr15:41,084,620...41,108,853 		JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,731,029...37,782,790
Ensembl chr15:37,664,556...37,780,138 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,897,476...86,957,113
Ensembl chr15:86,897,476...86,957,113 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:92,137,703...92,141,741
Ensembl chr15:92,135,994...92,142,105 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,883,237...39,903,770
Ensembl chr15:39,883,238...39,903,674 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,161,894...55,215,031
Ensembl chr15:55,161,868...55,215,029 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,400,478...61,441,303
Ensembl chr15:61,400,004...61,468,852 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,670,756...84,848,876
Ensembl chr15:84,670,756...84,848,693 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,748,754...69,911,605
Ensembl chr15:69,749,217...69,884,656 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,909,587...39,948,719
Ensembl chr15:39,902,284...39,958,892 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,888,847...84,942,095
Ensembl chr15:84,899,806...84,942,095
Ensembl chr 3:84,899,806...84,942,095 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:76,512,851...76,537,235
Ensembl chr16:76,512,860...76,537,246 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,259,840...41,385,549
Ensembl chr15:41,259,884...41,385,549 		JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr16:74,002,566...74,052,579
Ensembl chr16:74,002,410...74,052,578 		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 DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma 		ClinVar
RGD		 PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A susceptibility ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM		 PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr10:56,277,134...56,332,229
Ensembl chr10:56,277,134...56,323,880 		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 chr 9:72,203,598...72,242,287
Ensembl chr 9:72,203,598...72,242,287 		JBrowse link
ocular melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,919,416...134,932,210
Ensembl chr 3:134,919,414...134,932,550 		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 IDA RGD PMID:10586938 RGD:10059329 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		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 chr11:17,994,856...18,971,895
Ensembl chr11:17,994,856...18,971,448 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Dicer1 dicer 1 ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:129,396,014...129,457,252 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Ifnb1 interferon beta 1 ameliorates ISO RGD PMID:19306089 RGD:401854248 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487 		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 chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Kdm1b lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr17:17,809,232...17,850,141
Ensembl chr17:17,809,232...17,850,068 		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 chr15:54,826,110...54,827,919
Ensembl chr15:54,823,717...54,978,783 		JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:101,369,988...101,395,549 		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 chr15:55,106,079...55,116,354
Ensembl chr15:55,105,998...55,116,429 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:201,140,661...201,367,482 		JBrowse link
G Mir182 microRNA 182 treatment IEP
IMP 		miRNA:increased expression:retina RGD PMID:30320366 PMID:30320366 RGD:15092072, RGD:15092072 NCBI chr 4:59,752,246...59,752,307 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		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 chr 5:135,510,666...135,522,777
Ensembl chr 5:135,517,695...135,522,776 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		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 chr15:55,117,312...55,123,983 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 chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinoblastoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
DNA:mutations:exon, intron:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More... RGD:8547986 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		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 chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:17096365 PMID:28492532 NCBI chr15:55,161,894...55,215,031
Ensembl chr15:55,161,868...55,215,029 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067 		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 chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
uveal melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 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 		OMIM
ClinVar
RGD		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:188,425,392...188,430,174 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISS OMIM:155720 | OMIM:606660 | OMIM:606661 MouseDO NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr13:48,554,367...48,625,721
Ensembl chr13:48,554,420...48,626,423 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: MBD4-related condition | ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:150,565,655...150,577,578 		JBrowse link
G Mcam melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:53,376,197...53,384,406 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:31186267 NCBI chr 3:143,405,721...143,775,129
Ensembl chr 3:143,405,950...143,775,113 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 severity ISO protein:increased expression:tumor of uvea (human) RGD PMID:9286277 RGD:7364941 NCBI chr20:3,314,491...3,322,815 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:134,919,416...134,932,210
Ensembl chr 3:134,919,414...134,932,550 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        Eye Neoplasms 113
          Conjunctival Neoplasms + 2
          Familial Melanoma, Malignant Intraocular 0
          Ocular Paraneoplastic Syndromes 1
          Orbital Neoplasms + 0
          Retinal Neoplasms + 89
          Uveal Neoplasms + 17
          eyelid benign neoplasm + 2
          ocular cancer + 106
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              Eye Neoplasms 113
                Conjunctival Neoplasms + 2
                Familial Melanoma, Malignant Intraocular 0
                Ocular Paraneoplastic Syndromes 1
                Orbital Neoplasms + 0
                Retinal Neoplasms + 89
                Uveal Neoplasms + 17
                eyelid benign neoplasm + 2
                ocular cancer + 106
paths to the root