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: retinoblastoma
Accession: DOID:768
browse the term
Definition: A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. (DO)
Synonyms: exact_synonym: RB; RB - retinoblastoma; RB1; Retinal Glioblastoma; Retinal Glioblastomas; Retinal Glioma; Retinal Gliomas; Retinal Neuroblastoma; Retinal Neuroblastomas; eye cancer, retinoblastoma; neuroblastoma of retina; retinoblastomas; sporadic retinoblastoma; sporadic retinoblastomas
primary_id: MESH:D012175
alt_id: OMIM:180200
xref: EFO:0002923 ; EFO:0005717 ; GARD:7563 ; NCI:C42596 ; NCI:C6956 ; NCI:C7541 ; ORDO:790
For additional species annotation, visit the
Alliance of Genome Resources .
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Cadm2
cell adhesion molecule 2
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:30320366
RGD:15092072
NCBI chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
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Cdkn2a
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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Dicer1
dicer 1, ribonuclease type III
exacerbates
IMP
DNA:deletion:haploinsufficiency
RGD
PMID:20019750
RGD:149735324
NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
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Fancm
Fanconi anemia, complementation group M
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
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Fas
Fas cell surface death receptor
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:14533029
RGD:8662811
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Ifnb1
interferon beta 1, fibroblast
ameliorates
ISO
RGD
PMID:19306089
RGD:401854248
NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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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:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
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Kdm1b
lysine (K)-specific demethylase 1B
ISO
mRNA:increased expression:retina (human)
RGD
PMID:16180235
RGD:9588276
NCBI chr13:47,196,849...47,238,085
Ensembl chr13:47,196,975...47,238,755
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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:21505449 PMID:22909775 PMID:23301675 PMID:25640679 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
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Max
Max protein
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:76,984,045...77,009,123
Ensembl chr12:76,984,043...77,008,975
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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:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15799820
RGD:2317684
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:SNP::2756A>G(human)
RGD
PMID:20310006
RGD:8694083
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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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 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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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:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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Rb1
RB transcriptional corepressor 1
ISO
DNA:mutations:exon, intron:multiple ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma CTD Direct Evidence: marker/mechanism
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:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 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: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:16988938 PMID:17096365 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:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 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:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 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:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34645364 PMID:34680218 PMID:35534704 PMID:12402348 More...
RGD:8547986
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
treatment
ISO
human protein and tumor xenograft in a mouse model
RGD
PMID:19832843
RGD:8554870
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Sncg
synuclein, gamma
ISO
RGD
PMID:18728752
RGD:6218971
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
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4933427D06Rik
RIKEN cDNA 4933427D06 gene
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013
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Acod1
aconitate decarboxylase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
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Alg11
ALG11 alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
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Arl11
ADP-ribosylation factor-like 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
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Atp7b
ATPase, Cu++ transporting, beta polypeptide
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
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Bora
bora, aurora kinase A activator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976
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Cab39l
calcium binding protein 39-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
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Ccdc70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
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Cdadc1
cytidine and dCMP deaminase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
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Ckap2
cytoskeleton associated protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
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Cln5
ceroid-lipofuscinosis, neuronal 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
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Cnmd
chondromodulin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610
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Commd6
COMM domain containing 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Dach1
dachshund family transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201
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Diaph3
diaphanous related formin 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
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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 chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
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Dleu7
deleted in lymphocytic leukemia, 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
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Ebpl
emopamil binding protein-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
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Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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Fam124a
family with sequence similarity 124, member A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
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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 chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002
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Fndc3a
fibronectin type III domain containing 3A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443
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Gm4131
predicted gene 4131
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
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Gm45935
predicted gene, 45935
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,618,282...59,678,329
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Ints6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
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Kcnrg
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275
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Kctd12
potassium channel tetramerisation domain containing 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
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Klf12
Kruppel-like transcription factor 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
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Klf5
Kruppel-like transcription factor 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
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Klhl1
kelch-like 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538
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Kpna3
karyopherin subunit alpha 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
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Krtap21-1
keratin associated protein 21-1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
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Lmo7
LIM domain only 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
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Mir15a
microRNA 15a
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
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Mir16-1
microRNA 16-1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
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Mir759
microRNA 759
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
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Mycbp2
MYC binding protein 2, E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
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Mzt1
mitotic spindle organizing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
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Ndfip2
Nedd4 family interacting protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
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Nek3
NIMA (never in mitosis gene a)-related expressed kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
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Nek5
NIMA (never in mitosis gene a)-related expressed kinase 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
G
Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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Obi1
ORC ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
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Olfm4
olfactomedin 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
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Pcdh17
protocadherin 17
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
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Pcdh20
protocadherin 20
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
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Pcdh8
protocadherin 8
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752
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Pcdh9
protocadherin 9
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
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Phf11d
PHD finger protein 11D
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929
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Pou4f1
POU domain, class 4, transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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Rbm26
RNA binding motif protein 26
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
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Rcbtb1
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
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Rcbtb2
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
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Scel
sciellin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
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Serpine3
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
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Setdb2
SET domain, bifurcated 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
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Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
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Slitrk1
SLIT and NTRK-like family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
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Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
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Spry2
sprouty RTK signaling antagonist 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
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Spryd7
SPRY domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
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Sucla2
succinate-Coenzyme A ligase, ADP-forming, beta subunit
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
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Sugt1
SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
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Tdrd3
tudor domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
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Thsd1
thrombospondin, type I, domain 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
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Trim13
tripartite motif-containing 13
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
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Uchl3
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
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Vps36
vacuolar protein sorting 36
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
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Wdfy2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
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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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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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:25157968 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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