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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


show annotations for term's descendants           Sort by:
adenosquamous gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
adenosquamous lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322		 CTD
OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		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 PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		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 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295 		JBrowse link
G Wt1 WT1 transcription factor ISO
ISS		 OMIM:194080
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 More... RGD:1580624 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
DICER1 syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box-containing 2 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: DICER1 syndrome OMIM
ClinVar		 PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397 		JBrowse link
G Gsc goosecoid homeobox ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294 		JBrowse link
G Ifi27l2b interferon, alpha-inducible protein 27 like 2B ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670 		JBrowse link
G Serpina12 serpin family A member 12 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271 		JBrowse link
G Serpina1f serpin family A member 1F ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Serpina4 serpin family A member 4 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082 		JBrowse link
G Serpina5 serpin family A member 5 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349 		JBrowse link
G Serpina9 serpin family A member 9 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,918,819...122,936,000
Ensembl chr 6:122,918,880...122,936,000 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591 		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 chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480 		JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308 		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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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: GLOW SYNDROME OMIM
ClinVar		 PMID:19556464 PMID:21266384 PMID:24676357 PMID:24839956 PMID:25741868 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		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 term: Hepatoblastoma ClinVar PMID:8764128 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Apoa1 apolipoprotein A1 ISO mRNA, protein:decreased expression:serum (human) RGD PMID:27974108 RGD:25671440 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:26822237 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Axin2 axin 2 ISO protein:increased expression:liver: RGD PMID:11809809 RGD:151356508 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26580448 PMID:28492532 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Cdh1 cadherin 1 ISO protein:increased expression:liver RGD PMID:16465411 RGD:14402053 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cldn1 claudin 1 severity IEP mRNA,protein:decreased expression:liver, embryonic tissue (human) RGD PMID:16647953 RGD:26884349 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		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
RGD		 PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... RGD:14402054 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Dpep1 dipeptidase 1 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA,protein:increased expression:hepatocyte:
ClinVar Annotator: match by term: Hepatoblastoma		 ClinVar
RGD		 PMID:28492532 PMID:10398166 RGD:14700699 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:35495172 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:liver (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23958494 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:27666373 PMID:28492532 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mir193a microRNA 193a exacerbates ISO RNA:decreased expression:liver (human) RGD PMID:31541079 RGD:153344539 NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454 		JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:plasma, extracellular exosome RGD PMID:27601233 RGD:14695023 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir34a microRNA 34a severity ISO miRNA:increased expression:liver RGD PMID:27046304 RGD:14695006 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mki67 marker of proliferation Ki-67 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 ISO mRNA:increased expression:liver (human) RGD PMID:12935928 RGD:9590075 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593 		JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO embryonal subtype;protein:increased expression:liver, nucleus (human) RGD PMID:23822878 RGD:11556217 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO Embryonal Hepatoblastoma;protein:increased expression:liver (human) RGD PMID:23822878 RGD:11556217 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smo smoothened, frizzled class receptor ISO protein:increased expression:liver RGD PMID:21159571 RGD:150521618 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Spop speckle type BTB/POZ protein ISO mRNA:decreased expression:liver (human) RGD PMID:24912477 RGD:153298925 NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO protein:increased expression:liver (human) RGD PMID:33368532 RGD:151361168 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771 		JBrowse link
myoepithelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd3 adenosine monophosphate deaminase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:164,884,823...164,929,899
Ensembl chr 1:164,885,320...164,929,887 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G Asmtl acetylserotonin O-methyltransferase-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:16,315,335...16,318,083
Ensembl chr12:16,315,414...16,318,080 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003 		JBrowse link
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611 		JBrowse link
G Cdcp1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:122,828,685...122,865,345
Ensembl chr 8:122,828,685...122,865,388 		JBrowse link
G Celf4 CUGBP, Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:16,786,578...17,065,045
Ensembl chr18:16,786,867...17,064,786 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:138,850,119...138,885,037
Ensembl chr 5:138,850,128...138,885,034 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284 		JBrowse link
G Ephb6 Eph receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:70,491,973...70,507,230
Ensembl chr 4:70,491,973...70,507,230 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Etv5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:78,608,618...78,666,221
Ensembl chr11:78,608,710...78,666,215 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fam168b family with sequence similarity 168, member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:37,005,569...37,038,631
Ensembl chr 9:37,006,689...37,033,723 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:64,006,847...64,206,408
Ensembl chr 5:64,009,980...64,206,085 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Has1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397 		JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:22,585,016...22,714,517
Ensembl chr17:22,585,016...22,711,956 		JBrowse link
G Hrh2 histamine receptor H 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709 		JBrowse link
G Itgal integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:61,138,663...61,217,423
Ensembl chr17:61,138,709...61,187,960 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Leng9 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:70,039,099...70,041,559
Ensembl chr 1:70,035,791...70,044,509 		JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389 		JBrowse link
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:56,545,462...56,633,649
Ensembl chr16:56,546,207...56,633,743 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112 		JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:19,487,124...19,543,911
Ensembl chr 3:19,487,182...19,543,908 		JBrowse link
G Napsa napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,064,726...95,077,101
Ensembl chr 1:95,064,900...95,077,094 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319 		JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546 		JBrowse link
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:121,433,993...121,439,158
Ensembl chr 5:121,434,096...121,439,154 		JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792 		JBrowse link
G Ptgfr prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:240,731,185...240,766,674
Ensembl chr 2:240,733,375...240,765,650 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648 		JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396 		JBrowse link
G Rbm12b RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:25,597,405...25,610,324
Ensembl chr 5:25,590,493...25,611,245 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380 		JBrowse link
G Recql5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:101,126,544...101,165,739
Ensembl chr10:101,126,547...101,165,652 		JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:1,441,986...1,447,397
Ensembl chr 6:98,809,534...98,809,897 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802 		JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811 		JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:207,031,359...207,093,787
Ensembl chr 1:207,031,592...207,089,026 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219 		JBrowse link
G Tmcc3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:28,893,972...29,171,935
Ensembl chr 7:28,893,967...29,171,926 		JBrowse link
G Tmem121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:132,262,182...132,265,797
Ensembl chr 6:132,262,176...132,265,914 		JBrowse link
G Tnks1bp1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:70,135,335...70,160,071
Ensembl chr 3:70,137,837...70,160,038 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Tsks testis-specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,414,312...95,441,670
Ensembl chr 1:95,414,157...95,441,662 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
G Vipr2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:136,996,664...137,070,599
Ensembl chr 6:137,001,511...137,070,597 		JBrowse link
G Ylpm1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:104,642,615...104,718,508
Ensembl chr 6:104,642,615...104,718,508 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878 		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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:22160518 RGD:7207220 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Bcl2l1 Bcl2-like 1 disease_progression ISO RGD PMID:15717629 RGD:1643482 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP mRNA:decreased expression:kidney RGD PMID:9808158 RGD:2289034 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Wilms tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic		 OMIM
CTD
ClinVar
RGD		 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 More... RGD:2289049 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15797629 RGD:2289153 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:12131349 RGD:2289361 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO RGD PMID:15797629 RGD:2289153 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B disease_progression ISO RGD PMID:14760081 RGD:2293605 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO protein:increased expression:kidney RGD PMID:17369505 RGD:2289679 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		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 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:kidney
ClinVar Annotator: match by term: Nephroblastoma
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple		 ClinVar
CTD
RGD		 PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... RGD:2289833, RGD:2289834 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:17634442 RGD:7257700 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO DNA:missense mutations, deletions:multiple (human) RGD PMID:22306653 RGD:11558020 NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 2:61,864,886...61,976,688
Ensembl chr 2:61,864,970...61,976,688 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression:kidney RGD PMID:16932912 RGD:2289932 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO RGD PMID:12560388 RGD:2289966 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781 		JBrowse link
G Glipr1 GLI pathogenesis-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18030365 NCBI chr 7:47,487,342...47,498,974
Ensembl chr 7:47,487,345...47,498,429 		JBrowse link
G Gpc3 glypican 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1		 OMIM
CTD
ClinVar		 PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 More... NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284 		JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility ISO associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11436121 RGD:2306181 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		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 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO RGD PMID:9070652 RGD:7242956 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Jup junction plakoglobin disease_progression ISO RGD PMID:17633921 RGD:2301745 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kdm4d lysine demethylase 4D ISO mRNA:increased expression:kidney (human) RGD PMID:24219278 RGD:9588525 NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase disease_progression ISO RGD PMID:19010635 RGD:12910726 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Map3k4 mitogen activated protein kinase kinase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358 		JBrowse link
G Max MYC associated factor X ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Mllt1 MLLT1, super elongation complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19346876 RGD:6893546 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO mRNA:increased expression:kidney RGD PMID:12165855 RGD:2299168 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383 		JBrowse link
G Pax2 paired box 2 ISO
IEP		 mRNA:increased expression:kidney RGD PMID:12057921 PMID:7937920 RGD:2316755, RGD:2316757 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:11869017 RGD:2315007 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:kidney RGD PMID:16945639 RGD:2300206 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rest RE1-silencing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551668 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:kidney RGD PMID:16863836 RGD:2312354 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		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
RGD		 PMID:28825729 PMID:25670083 PMID:22180226 RGD:11561953, RGD:11561963 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 severity ISO RGD PMID:22483234 RGD:12879482 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:16799645 RGD:2291893 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Terc telomerase RNA component disease_progression ISO RGD PMID:16172460 RGD:2291966 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:16172460 RGD:2291966 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:11466614 RGD:2290439 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO mRNA:increased expression:kidney RGD PMID:12438255 PMID:16556665 RGD:2315132, RGD:2315131 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO DNA:loss of heterozygosity:kidney RGD PMID:10760569 RGD:2291834 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Trim28 tripartite motif-containing 28 ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:25741868 PMID:32699065 NCBI chr 1:73,652,441...73,659,388
Ensembl chr 1:73,652,709...73,659,380 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074 		JBrowse link
G Vegfc vascular endothelial growth factor C disease_progression ISO RGD PMID:17257131 RGD:2315481 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IEP
ISO		 protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11880179 PMID:11880179 RGD:625549 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:kidney RGD PMID:16575872 RGD:2291870 NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360 		JBrowse link
G Wt1 WT1 transcription factor ISO DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human)
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 More... RGD:2315545, RGD:1331525, RGD:2315544 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
pancreatic adenosquamous carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb2 transforming growth factor, beta 2 ameliorates ISO human cells in a mouse model RGD PMID:21366804 RGD:155630611 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860 		JBrowse link
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170 		JBrowse link
G C9h2orf72  similar to human chromosome 2 open reading frame 72 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303 		JBrowse link
G Dgkd diacylglycerol kinase, delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO
ISS		 OMIM:267000
ClinVar Annotator: match by term: Perlman syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917 		JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728 		JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112 		JBrowse link
G LOC120094883 small nucleolar RNA SNORD82 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586 		JBrowse link
G LOC120094885 small nucleolar RNA SNORD20 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147 		JBrowse link
G Mroh2a maestro heat-like repeat family member 2A ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136 		JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684 		JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670 		JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542 		JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102 		JBrowse link
G Trpm8 transient receptor potential cation channel, subfamily M, member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914 		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 CTD Direct Evidence: marker/mechanism CTD
OMIM
RGD		 PMID:10029085 RGD:1599086 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		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
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds		 ClinVar
CTD
RGD		 PMID:19556464 PMID:21036787 PMID:21266384 PMID:21501861 PMID:21882293 More... RGD:149735200, RGD:11552609 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Yy1 YY1 transcription factor ISS OMIM:601200 MouseDO NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747 		JBrowse link
renal Wilms' tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Gpc3 glypican 3 disease_progression ISO mRNA, protein:increased expression:kidney (human) RGD PMID:25366870 RGD:243065136 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO associated with loss of imprinting;DNA:hypermethylation:promoter, kidney (human) RGD PMID:11431321 RGD:151356740 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Pax2 paired box 2 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Six2 SIX homeobox 2 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wt1 WT1 transcription factor ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pgbd5 piggyBac transposable element derived 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28504702 NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397 		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)
protein:decreased expression:brain, kidney, soft tissue:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370 RGD:1599055, RGD:155804291 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8269278 PMID:9536098 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		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 2 ClinVar PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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 chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480 		JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY RGD PMID:22655094 RGD:40924659
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		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 chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		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 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:7530509 PMID:9438854 PMID:10680913 PMID:11276010 PMID:11505412 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 ameliorates ISO mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		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 PMID:28492532 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:26619011 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		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 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine Carcinosarcoma RGD PMID:17367465 RGD:2292170 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		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 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:23447401 PMID:24525744 PMID:24844595 PMID:25228659 PMID:26619011 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		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 PMID:28492532 More... NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21919130 NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		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: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome		 CTD
ClinVar		 PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... RGD:1331525 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Wilms Tumor 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		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 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11284034 PMID:15459955 NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039 		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
OMIM
CTD		 PMID:25741868 PMID:26551668 PMID:28492532 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of cellular proliferation 7653
      Neoplasms by Histologic Type 5252
        Complex and Mixed Neoplasms 356
          Adenolymphoma 0
          Adenomyoepithelioma + 0
          Malignant Mixed Tumor 0
          Mesodermal Mixed Tumor 0
          adenomyoma + 0
          adenosarcoma + 0
          adenosquamous carcinoma + 4
          composite lymphoma 0
          endometrial stromal sarcoma + 1
          hepatoblastoma + 68
          mesenchymoma + 0
          mixed cell type cancer + 28
          myoepithelioma 94
          nephroblastoma + 142
          pleomorphic adenoma 1
          pulmonary blastoma + 25
          rhabdoid cancer + 9
          thymoma + 15
paths to the root