RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:28492532
NCBI chr20:13,692,102...13,707,645
Ensembl chr20:13,704,314...13,706,205
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:609322
OMIM ClinVar
PMID:9536098 PMID:9671307 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:18647326 PMID:19124645 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor
ClinVar
PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15132766
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15132766
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:17694336 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Ar
androgen receptor
ISO
protein:decreased expression:sertoli cell
RGD
PMID:16245160
RGD:1643343
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor ClinVar Annotator: match by term: Drash syndrome ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM ClinVar Annotator: match by OMIM:194080
ClinVar OMIM
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 PMID:1658787 PMID:1671709 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11278460 PMID:11322369 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22465478 PMID:22703879 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25501161 PMID:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29668062 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32581362 , PMID:12161615
RGD:1580624
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:17525908
RGD:2292040
NCBI chr14:19,141,755...19,159,919
Ensembl chr14:19,141,755...19,159,923
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:testis, nucleus (human)
RGD
PMID:23347651
RGD:11557983
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:207,433,771...207,457,094
Ensembl chr 2:207,440,886...207,455,258
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:17367465
RGD:2292170
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR ClinVar Annotator: match by term: GLOW SYNDROME
ClinVar OMIM
PMID:24676357 PMID:28492532
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by null
ClinVar
PMID:8764128
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Apoa1
apolipoprotein A1
ISO
mRNA, protein:decreased expression:serum (human)
RGD
PMID:27974108
RGD:25671440
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:26822237
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Cdh1
cadherin 1
ISO
protein:increased expression:liver
RGD
PMID:16465411
RGD:14402053
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25186627 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:27640074 PMID:28060055 PMID:28380455 PMID:28492532 PMID:28726808
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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Cldn1
claudin 1
severity
IEP
mRNA,protein:decreased expression:liver, embryonic tissue (human)
RGD
PMID:16647953
RGD:26884349
NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatoblastoma protein:increased expression:cytoplasm,nucleus:
CTD ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:21237236 PMID:23265383 PMID:25157968 PMID:26619011 PMID:26822237 , PMID:10398436
RGD:14402054
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Fas
Fas cell surface death receptor
ISO
mRNA,protein:increased expression:hepatocyte:
RGD
PMID:10398166
RGD:14700699
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23958494
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Mir21
microRNA 21
ISO
miRNA:increased expression:plasma, extracellular exosome
RGD
PMID:27601233
RGD:14695023
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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Mir34a
microRNA 34a
severity
ISO
miRNA:increased expression:liver
RGD
PMID:27046304
RGD:14695006
NCBI chr 5:167,092,491...167,092,592
Ensembl chr 5:167,092,491...167,092,592
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Nap1l1
nucleosome assembly protein 1-like 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:12935928
RGD:9590075
NCBI chr 7:54,213,305...54,237,880
Ensembl chr 7:54,213,319...54,236,625
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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Sall1
spalt-like transcription factor 1
ISO
embryonal subtype;protein:increased expression:liver, nucleus (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
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Sall4
spalt-like transcription factor 4
ISO
Embryonal Hepatoblastoma;protein:increased expression:liver (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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Tgfa
transforming growth factor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 PMID:19556618 PMID:20128691 PMID:21343334 PMID:22887876 PMID:23031740 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:28492532 PMID:28975465 PMID:30720243 PMID:31775759
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Abcb1a
ATP binding cassette subfamily B member 1A
disease_progression
ISO
RGD
PMID:11888090
RGD:2315560
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Amer1
APC membrane recruitment protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:64,686,620...64,702,504
Ensembl chr X:64,686,623...64,702,441
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Apoc3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:22160518
RGD:7207220
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Asxl1
ASXL transcriptional regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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Bcl2l1
Bcl2-like 1
disease_progression
ISO
RGD
PMID:15717629
RGD:1643482
NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:135,187,468...135,233,859
Ensembl chr X:135,187,468...135,233,839
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Bmp7
bone morphogenetic protein 7
IEP
mRNA:decreased expression:kidney
RGD
PMID:9808158
RGD:2289034
NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Wilm's tumor
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G ClinVar Annotator: match by term: Wilms tumor 1 ClinVar Annotator: match by term: Bilateral Wilms tumor ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar OMIM
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079 , PMID:15689453
RGD:2289049
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Ccnd2
cyclin D2
ISO
RGD
PMID:15797629
RGD:2289153
NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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Cd44
CD44 molecule (Indian blood group)
ISO
RGD
PMID:12131349
RGD:2289361
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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Cdk15
cyclin-dependent kinase 15
ISO
mRNA:increased expression:kidney
RGD
PMID:12057921
RGD:2316755
NCBI chr 9:66,059,765...66,153,729
Ensembl chr 9:66,058,047...66,148,087
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Cdk4
cyclin-dependent kinase 4
disease_progression
ISO
RGD
PMID:15797629
RGD:2289153
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
disease_progression
ISO
RGD
PMID:14760081
RGD:2293605
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
protein:increased expression:kidney
RGD
PMID:17369505
RGD:2289679
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
protein:increased expression:kidney
RGD
PMID:17369505
RGD:2289679
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 PMID:19030985 PMID:20722467 PMID:21244692 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22520019 PMID:22691310 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23409019 PMID:23415889 PMID:24723567 PMID:26822237
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Col6a3
collagen type VI alpha 3 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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Ctnnb1
catenin beta 1
ISO
protein:increased expression:kidney CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Wilms Tumor DNA:mutations: :multiple
CTD ClinVar
PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:21237236 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 PMID:28825729 , PMID:12890743 , PMID:12239584
RGD:2289833 , RGD:2289834
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:17634442
RGD:7257700
NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
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Dicer1
dicer 1 ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
DNA:missense mutations, deletions:multiple (human)
RGD
PMID:22306653
RGD:11558020
NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
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Drosha
drosha ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
protein:increased expression:kidney
RGD
PMID:16932912
RGD:2289932
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:12560388
RGD:2289966
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Wilms Tumor
ClinVar
PMID:26822237
NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
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Fzd7
frizzled class receptor 7
ISO
mRNA:increased expression:kidney
RGD
PMID:12057921
RGD:2316755
NCBI chr 9:66,305,731...66,308,550
Ensembl chr 9:66,305,731...66,308,550
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Glipr1
GLI pathogenesis-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18030365
NCBI chr 7:54,767,828...54,778,823
Ensembl chr 7:54,767,827...54,778,848
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Gpc3
glypican 3
ISO
ClinVar Annotator: match by term: Wilms tumor 1 ClinVar Annotator: match by OMIM:194070
OMIM ClinVar
PMID:8589713 PMID:8958336 PMID:9536098 PMID:10402475 PMID:10814714 PMID:12085187 PMID:12713262 PMID:17576681 PMID:17603795 PMID:17850639 PMID:20683991 PMID:20950395 PMID:21362501 PMID:21434539 PMID:24033266 PMID:24169032 PMID:24214682 PMID:24459012 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:139,579,268...139,947,093
Ensembl chr X:139,579,268...139,916,883
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Gpc4
glypican 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:139,354,325...139,464,876
Ensembl chr X:139,354,155...139,464,798
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H19
H19, imprinted maternally expressed transcript (non-protein coding)
susceptibility
ISO
associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation
RGD
PMID:11436121
RGD:2306181
NCBI chr 1:215,744,404...215,747,080
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:kidney
RGD
PMID:17937859
RGD:2291911
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Igf1r
insulin-like growth factor 1 receptor
treatment
ISO
human cells in a mouse model mRNA:increased expression:kidney (human)
RGD
PMID:22529373 , PMID:8390684 , PMID:8390684
RGD:7242789 , RGD:12904709 , RGD:12904709
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8252039
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Igf2r
insulin-like growth factor 2 receptor
ISO
RGD
PMID:9070652
RGD:7242956
NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
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Jup
junction plakoglobin
disease_progression
ISO
RGD
PMID:17633921
RGD:2301745
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
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Kdm4d
lysine demethylase 4D
ISO
mRNA:increased expression:kidney (human)
RGD
PMID:24219278
RGD:9588525
NCBI chr 8:12,968,192...12,993,651
Ensembl chr 8:13,511,805...13,513,337
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Kit
KIT proto-oncogene receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:19010635
RGD:12910726
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Lin28a
lin-28 homolog A
ISS
OMIM:194070
MouseDO
NCBI chr 5:152,230,343...152,247,873
Ensembl chr 5:152,230,343...152,247,332
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Map3k4
mitogen activated protein kinase kinase kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 1:48,625,714...48,711,642
Ensembl chr 1:48,625,743...48,711,642
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Max
MYC associated factor X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Wilms Tumor ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar
PMID:25741868 PMID:26822237
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Mllt1
MLLT1, super elongation complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:10,110,389...10,155,305
Ensembl chr 9:10,110,389...10,155,302
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:19346876
RGD:6893546
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Myc
MYC proto-oncogene, bHLH transcription factor
severity
ISO
protein:increased expression:kidney (mouse) mRNA:decreased expression:tumor (human)
RGD
PMID:21983638 , PMID:18260125
RGD:7207786 , RGD:7207840
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Nono
non-POU domain containing, octamer-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr X:71,324,365...71,342,225
Ensembl chr X:71,324,365...71,342,225
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Pak1
p21 (RAC1) activated kinase 1
ISO
mRNA:increased expression:kidney
RGD
PMID:12165855
RGD:2299168
NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
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Pax2
paired box 2
ISO IEP
mRNA:increased expression:kidney
RGD
PMID:12057921 , PMID:7937920
RGD:2316755 , RGD:2316757
NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:11869017
RGD:2315007
NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:kidney
RGD
PMID:16945639
RGD:2300206
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rest
RE1-silencing transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551668
NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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Serpinf1
serpin family F member 1
ISO
protein:decreased expression:kidney
RGD
PMID:16863836
RGD:2312354
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Six1
SIX homeobox 1
severity
ISO
DNA:missense mutation:cds:p.Q177R (human) CTD Direct Evidence: marker/mechanism protein:increased expression:kidney, blastema (human)
CTD
PMID:28825729 , PMID:25670083 , PMID:22180226
RGD:11561953 , RGD:11561963
NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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Six2
SIX homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
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Slc2a1
solute carrier family 2 member 1
severity
ISO
RGD
PMID:22483234
RGD:12879482
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Wilms Tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:kidney
RGD
PMID:16799645
RGD:2291893
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased expression:kidney
RGD
PMID:17937859
RGD:2291911
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Terc
telomerase RNA component
disease_progression
ISO
RGD
PMID:16172460
RGD:2291966
NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:16172460
RGD:2291966
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Wilms Tumor
ClinVar
PMID:26822237
NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
RGD
PMID:11466614
RGD:2290439
NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
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Top2a
DNA topoisomerase II alpha
ISO
mRNA:increased expression:kidney
RGD
PMID:12438255 , PMID:16556665
RGD:2315132 , RGD:2315131
NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tp73
tumor protein p73
ISO
DNA:loss of heterozygosity:kidney
RGD
PMID:10760569
RGD:2291834
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
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Trim28
tripartite motif-containing 28
ISO
ClinVar Annotator: match by term: Nephroblastoma
ClinVar
PMID:25741868 PMID:32699065
NCBI chr 1:65,544,369...65,551,043
Ensembl chr 1:65,544,373...65,551,043
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Trip13
thyroid hormone receptor interactor 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28553959
NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:17257131
RGD:2315481
NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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Vhl
von Hippel-Lindau tumor suppressor
IEP ISO
protein:decreased expression:kidney ClinVar Annotator: match by term: Wilms Tumor CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8634692 PMID:8707293 PMID:8956040 PMID:9829911 PMID:10567493 PMID:10761708 PMID:11106358 PMID:11739384 PMID:11880179 PMID:12414898 PMID:19228690 PMID:19906784 PMID:20447124 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:25157968 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28503092 PMID:29790589 , PMID:11880179
RGD:625549
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Wif1
Wnt inhibitory factor 1
ISO
mRNA:increased expression:kidney
RGD
PMID:16575872
RGD:2291870
NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
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Wt1
WT1 transcription factor
ISO
DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human) ClinVar Annotator: match by term: Wilms tumor 1 ClinVar Annotator: match by term: Wilms Tumor CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:194070
ClinVar CTD OMIM
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12471221 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15591903 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18688870 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25451826 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26822237 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28825729 PMID:29668062 PMID:30406062 PMID:32581362 , PMID:8381965 , PMID:15118671 , PMID:1316081
RGD:2315545 , RGD:1331525 , RGD:2315544
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28825729
NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism
ClinVar
PMID:25741868
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Perlman syndrome ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:267000
OMIM ClinVar CTD
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23576526 PMID:23594738 PMID:23613427 PMID:24141620 PMID:25640679 PMID:25741868 PMID:28135719 PMID:28492532
NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
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Plag1
PLAG1 zinc finger
ISO ISS
OMIM:181030
MouseDO
PMID:10029085
RGD:1599086
NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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Plag1
PLAG1 zinc finger
ISO
OMIM
NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar Annotator: match by term: Pleuropulmonary blastoma ClinVar Annotator: match by term: PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME ClinVar Annotator: match by OMIM:601200
OMIM ClinVar
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 PMID:16095561 PMID:16199547 PMID:17576681 PMID:18453628 PMID:18508075 PMID:18570301 PMID:19556464 PMID:21036787 PMID:21205968 PMID:21266384 PMID:21346072 PMID:21501861 PMID:21882293 PMID:22180160 PMID:22187960 PMID:22717647 PMID:23272173 PMID:23418872 PMID:23547758 PMID:23620094 PMID:23622242 PMID:23728841 PMID:23868280 PMID:23882114 PMID:24033266 PMID:24065110 PMID:24136150 PMID:24151152 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24628552 PMID:24675358 PMID:24676357 PMID:24708902 PMID:24728327 PMID:24823459 PMID:24839956 PMID:24909177 PMID:24909261 PMID:25022261 PMID:25118636 PMID:25190313 PMID:25231023 PMID:25348012 PMID:25356068 PMID:25451712 PMID:25526195 PMID:25670082 PMID:25670083 PMID:25741868 PMID:25803323 PMID:25836323 PMID:26033159 PMID:26033501 PMID:26241669 PMID:26289771 PMID:26428316 PMID:26461232 PMID:26475046 PMID:26526666 PMID:26545620 PMID:26555935 PMID:26556299 PMID:26566882 PMID:26577641 PMID:26580448 PMID:26592504 PMID:26628006 PMID:26666178 PMID:26822237 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:26983701 PMID:27036314 PMID:27050224 PMID:27126690 PMID:27459524 PMID:27494611 PMID:27664536 PMID:27697588 PMID:27784193 PMID:27819237 PMID:27896549 PMID:27930734 PMID:28012864 PMID:28097783 PMID:28166811 PMID:28177962 PMID:28202063 PMID:28222777 PMID:28323992 PMID:28459098 PMID:28492532 PMID:28502826 PMID:28524158 PMID:28562508 PMID:28624956 PMID:28654427 PMID:28688118 PMID:28748527 PMID:28766837 PMID:28825729 PMID:28834809 PMID:28862265 PMID:28960912 PMID:29037807 PMID:29187512 PMID:29315962 PMID:29351919 PMID:29395683 PMID:29399970 PMID:29459759 PMID:29469200 PMID:29474644 PMID:29538609 PMID:29633305 PMID:29641532 PMID:29660837 PMID:29706542 PMID:29708584 PMID:29726952 PMID:29753010 PMID:29762508 PMID:29881993 PMID:29883781 PMID:29943907 PMID:30014022 PMID:30072170 PMID:30097050 PMID:30178239 PMID:30260442 PMID:30266945 PMID:30339877 PMID:30446821 PMID:30585947 PMID:30597651 PMID:30649606 PMID:30665929 PMID:30672147 PMID:30989777 PMID:31342592
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Fgf9
fibroblast growth factor 9
ISS
OMIM:601200
MouseDO
NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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Yy1
YY1 transcription factor
ISS
OMIM:601200
MouseDO
NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
protein:increased expression:kidney (human)
RGD
PMID:20212451
RGD:7207430
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Pgbd5
piggyBac transposable element derived 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28504702
NCBI chr19:57,126,110...57,192,182
Ensembl chr19:57,127,054...57,192,095
G
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
DNA:nonsense mutation, deletions, insertions:multiple (human) ClinVar Annotator: match by term: Rhabdoid tumor CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25009291 PMID:26343384 , PMID:9671307
RGD:1599055
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
G
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar Annotator: match by OMIM:613325
OMIM ClinVar
PMID:8269278 PMID:9536098 PMID:16199547 PMID:17023429 PMID:17576681 PMID:18437052 PMID:19621450 PMID:20137775 PMID:20224553 PMID:21566516 PMID:22424359 PMID:23775540 PMID:23929686 PMID:24658001 PMID:24658002 PMID:24728327 PMID:25058500 PMID:25060813 PMID:25231023 PMID:25275049 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26580448 PMID:26822237 PMID:26901136 PMID:27701467 PMID:28166811 PMID:28202063 PMID:28492532 PMID:28608987 PMID:28873162 PMID:28973083 PMID:28990276 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31278258
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
G
Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chr14:19,141,755...19,159,919
Ensembl chr14:19,141,755...19,159,923
G
H19
H19, imprinted maternally expressed transcript (non-protein coding)
ISO
RGD
PMID:18719115
RGD:2306169
NCBI chr 1:215,744,404...215,747,080
G
Aqp4
aquaporin 4
ISO
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
G
Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
G
Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:26619011 PMID:31775759
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 PMID:11505412 PMID:12697809 PMID:12960119 PMID:14977822 PMID:15790786 PMID:16226710 PMID:16731599 PMID:16908931 PMID:17372901 PMID:17699867 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18980976 PMID:19461405 PMID:19671763 PMID:19812602 PMID:19861435 PMID:19996579 PMID:20736294 PMID:20970876 PMID:21159146 PMID:21325067 PMID:21642685 PMID:21690468 PMID:21969494 PMID:22261812 PMID:22357254 PMID:23375402 PMID:23598963 PMID:24755198 PMID:25157968 PMID:27771813 PMID:28492532
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:26619011 PMID:31775759
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:7,103,714...7,202,899
Ensembl chr16:7,103,998...7,200,362
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
RGD
PMID:16803529
RGD:2296053
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:16397024 PMID:23220880 PMID:26619011
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:26619011
NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
Uterine Carcinosarcoma
RGD
PMID:17367465
RGD:2292170
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:30543347 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:26619011 PMID:28492532
NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
G
Ppp2r1a
protein phosphatase 2 scaffold subunit A alpha
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011
NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609
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Prom1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21919130
NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10366100 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12124823 PMID:12406399 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17311302 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18989156 PMID:19101993 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21115975 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22713868 PMID:22811390 PMID:22844452 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23406775 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24766216 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30327374 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
ClinVar Annotator: match by term: Uterine Carcinosarcoma
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
G
Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
G
Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:194072
ClinVar CTD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532
NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: 11p partial monosomy syndrome ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar Annotator: match by OMIM:194072 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:17694336 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:32581362 , PMID:15118671
RGD:1331525
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Familial Wilms tumor 2
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17688236 PMID:17972171 PMID:18042939 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22762150 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24728189 PMID:24830819 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26187060 PMID:26295337 PMID:26467025 PMID:26541979 PMID:26681312 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29907814 PMID:29909963
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
G
Gpc3
glypican 3
ISO
ClinVar Annotator: match by term: Familial Wilms tumor 2
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:139,579,268...139,947,093
Ensembl chr X:139,579,268...139,916,883
G
Mrpl23
mitochondrial ribosomal protein L23
ISO
ClinVar Annotator: match by term: Wilms tumor 2
ClinVar
PMID:18836444
NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Familial Wilms tumor 2
ClinVar
PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:17694336 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
G
Pou6f2
POU class 6 homeobox 2
susceptibility
ISO
ClinVar Annotator: match by term: Wilms tumor and radial bilateral aplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11284034 PMID:15459955
NCBI chr17:49,053,679...49,509,174
G
Rest
RE1-silencing transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Wilms tumor 6 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:26551668 PMID:28492532
NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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