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
Accession: DOID:9004059
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Kcnrg
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:39,948,920...40,020,937
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,117,312...55,123,983
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Prr20e
proline rich 20E
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 4:123,123,877...123,132,004
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
RGD:8547984
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
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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 PMID:25741868 PMID:27662089 PMID:28492532 More...
NCBI chr10:56,277,134...56,332,229
Ensembl chr10:56,277,134...56,323,880
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:17301081 PMID:22180099 PMID:23301675 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455
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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
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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 PMID:20090211 PMID:21505449 PMID:22909775 PMID:23301675 PMID:24225018 PMID:25640679 PMID:25741868 PMID:26475597 PMID:27879208 PMID:28492532 PMID:28575107 PMID:29568217 PMID:33456302 PMID:33493472 More...
NCBI chr15:54,826,110...54,827,919
Ensembl chr15:54,823,717...54,978,783
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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
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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 PMID:17301081 PMID:22180099 PMID:23301675 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:55,106,079...55,116,354
Ensembl chr15:55,105,998...55,116,429
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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
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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
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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
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:135,517,695...135,522,776
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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
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:55,117,312...55,123,983
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302
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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
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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 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:3427701 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 PMID:8183566 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12011162 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15877282 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16682285 PMID:16972022 PMID:16988938 PMID:17096365 PMID:17286450 PMID:17299438 PMID:17301081 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20301625 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21270786 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24282159 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26475597 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27854218 PMID:27879208 PMID:27906792 PMID:27981572 PMID:27983729 PMID:28137276 PMID:28193182 PMID:28202063 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28841214 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30192042 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32191290 PMID:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34456592 PMID:34478740 PMID:34645364 PMID:34680218 PMID:35534704 PMID:36729443 PMID:12402348 More...
RGD:8547986
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
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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
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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
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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
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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 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29271000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:35537890 PMID:35999385 PMID:36071541 PMID:36250548 PMID:36294409 PMID:36515421 More...
NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Trilateral retinoblastoma
ClinVar
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:17096365 PMID:21763628 PMID:22963398 PMID:24688104 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
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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 PMID:24243779 PMID:24728327 PMID:25231345 PMID:25687217 PMID:25741868 PMID:25787093 PMID:25974357 PMID:26409435 PMID:26467025 PMID:26556299 PMID:26683624 PMID:26689913 PMID:26719535 PMID:27718540 PMID:28034829 PMID:28062663 PMID:28492532 PMID:28551647 PMID:28560743 PMID:28793149 PMID:28873162 PMID:29625052 PMID:29684080 PMID:30258054 PMID:30306255 PMID:30477459 PMID:30517737 PMID:30883995 PMID:31034483 PMID:31058963 PMID:31186267 PMID:31323388 PMID:32002398 PMID:33240524 PMID:35441217 PMID:35777164 PMID:35885614 PMID:36513904 PMID:36653904 PMID:38969833 PMID:25147369 More...
RGD:9586037
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952
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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
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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
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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
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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
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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
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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
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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
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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 PMID:31322271 PMID:32239153 PMID:35460607 PMID:36863448 More...
NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:150,565,655...150,577,578
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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
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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
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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
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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
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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
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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
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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
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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 chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
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