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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Complex and Mixed Neoplasms
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Accession:DOID:9003765 term browser browse the term
Definition:Neoplasms composed of more than one type of neoplastic tissue.
Synonyms:primary_id: MESH:D018193
 alt_id: RDO:0004739
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hepatoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
nephroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression:kidney RGD PMID:17369505 RGD:2289679
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
pleomorphic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Pleomorphic Salivary Gland Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO OMIM NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776 		JBrowse link
pleuropulmonary blastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
rhabdoid cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
Rhabdoid Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 JBrowse link
thymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
uterine carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
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 		JBrowse link
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 		JBrowse link
Wilms Tumor 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
Wilms Tumor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
Wilms Tumor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of cellular proliferation 6551
      Neoplasms by Histologic Type 4432
        Complex and Mixed Neoplasms 127
          Adenolymphomas 0
          Adenomyoepithelioma + 0
          Malignant Mixed Tumor 0
          Mesodermal Mixed Tumor 0
          adenomyoma + 0
          adenosarcoma + 0
          adenosquamous carcinoma + 0
          composite lymphoma 0
          endometrial stromal sarcoma + 1
          hepatoblastoma + 18
          mesenchymoma + 0
          mixed cell type cancer + 25
          myoepithelioma 0
          nephroblastoma + 82
          pleomorphic adenoma + 1
          pulmonary blastoma + 3
          rhabdoid cancer + 8
          thymoma + 11
paths to the root