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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 IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		JBrowse link
adenosquamous lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin HEP protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		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 IAGP ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G DERL3 derlin 3 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr22:23,834,503...23,839,006
Ensembl chr22:23,834,503...23,839,128 		JBrowse link
G GPC3 glypican 3 IEP protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
OMIM:609322
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G VIM vimentin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362 		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 IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr11:31,810,888...31,827,240 JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:8621495 PMID:12640141 PMID:15266301 PMID:16987884 PMID:25741868 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G DCDC1 doublecortin domain containing 1 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:30,863,603...31,369,739
Ensembl chr11:30,830,369...31,369,810 		JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:31,369,860...31,432,835
Ensembl chr11:31,369,840...31,432,835 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:31,432,401...31,509,622
Ensembl chr11:31,432,401...31,509,645 		JBrowse link
G LOC106707172 WT1 intron 3 regulatory region IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:28492532 NCBI chr11:32,424,513...32,427,518 JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor		 ClinVar PMID:1671709 PMID:8621495 PMID:9536098 PMID:12640141 PMID:15150775 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G LOC130005479 ATAC-STARR-seq lymphoblastoid silent region 3221 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:28492532 NCBI chr11:32,421,044...32,421,093 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G RCN1 reticulocalbin 1 IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr11:32,091,074...32,105,722
Ensembl chr11:32,091,074...32,105,722 		JBrowse link
G WT1 WT1 transcription factor IAGP
ISS
EXP		 ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor
OMIM:194080
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 More... RGD:1580624 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WT1-AS WT1 antisense RNA IAGP ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:28492532 NCBI chr11:32,435,518...32,458,769
Ensembl chr11:32,435,518...32,500,632 		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 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,934,166...93,976,570
Ensembl chr14:93,934,166...93,976,739 		JBrowse link
G BTBD7 BTB domain containing 7 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,237,550...93,333,036
Ensembl chr14:93,237,550...93,333,092 		JBrowse link
G COX8C cytochrome c oxidase subunit 8C IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,347,182...93,348,356
Ensembl chr14:93,347,182...93,348,356 		JBrowse link
G DDX24 DEAD-box helicase 24 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,048,287...94,081,202
Ensembl chr14:94,048,287...94,081,202 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: DICER1 syndrome OMIM
ClinVar		 PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G FAM181A family with sequence similarity 181 member A IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,918,894...93,929,608
Ensembl chr14:93,918,894...93,929,608 		JBrowse link
G GSC goosecoid homeobox IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G IFI27 interferon alpha inducible protein 27 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,105,894...94,116,690
Ensembl chr14:94,104,836...94,116,695 		JBrowse link
G IFI27L1 interferon alpha inducible protein 27 like 1 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,081,310...94,102,709
Ensembl chr14:94,081,301...94,103,846 		JBrowse link
G IFI27L2 interferon alpha inducible protein 27 like 2 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,127,781...94,129,604
Ensembl chr14:94,127,779...94,130,253 		JBrowse link
G LOC130056358 ATAC-STARR-seq lymphoblastoid silent region 6042 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar NCBI chr14:95,157,240...95,157,699 JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,026,340...94,048,930
Ensembl chr14:94,026,340...94,048,930 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,174,322...94,279,734
Ensembl chr14:94,146,128...94,279,734 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,718,298...93,788,994
Ensembl chr14:93,718,298...93,788,485 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800 		JBrowse link
G SERPINA12 serpin family A member 12 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844 		JBrowse link
G SERPINA2 serpin family A member 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,364,318...94,366,702
Ensembl chr14:94,364,316...94,366,698 		JBrowse link
G SERPINA3 serpin family A member 3 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055 		JBrowse link
G SERPINA4 serpin family A member 4 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913 		JBrowse link
G SERPINA5 serpin family A member 5 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,581,426...94,593,118
Ensembl chr14:94,561,442...94,593,118 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SERPINA9 serpin family A member 9 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,462,721...94,476,197
Ensembl chr14:94,462,717...94,479,689 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UNC79 unc-79 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,333,182...93,707,876
Ensembl chr14:93,333,219...93,707,876 		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 IEP protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G CTNNB1 catenin beta 1 IEP mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors RGD PMID:16822086 RGD:2298800 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FGF8 fibroblast growth factor 8 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G WNT2B Wnt family member 2B IEP mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165 		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 IEP protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		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 IAGP ClinVar Annotator: match by term: GLOW SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOA1 apolipoprotein A1 IEP mRNA, protein:decreased expression:serum (human) RGD PMID:27974108 RGD:25671440 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:26822237 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102 		JBrowse link
G AXIN2 axin 2 IEP protein:increased expression:liver: RGD PMID:11809809 RGD:151356508 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CDH1 cadherin 1 IEP protein:increased expression:liver RGD PMID:16465411 RGD:14402053 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CLDN1 claudin 1 severity IEP mRNA,protein:decreased expression:liver, embryonic tissue (human) RGD PMID:16647953 RGD:26884349 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G CTNNB1 catenin beta 1 IAGP
IEP
EXP		 ClinVar Annotator: match by term: Hepatoblastoma
protein:increased expression:cytoplasm,nucleus:
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... RGD:14402054 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CUX2 cut like homeobox 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More... NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DPEP1 dipeptidase 1 ameliorates IMP human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456 		JBrowse link
G DROSHA drosha ribonuclease III IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FAS Fas cell surface death receptor IEP
IAGP		 mRNA,protein:increased expression:hepatocyte:
ClinVar Annotator: match by term: Hepatoblastoma		 ClinVar
RGD		 PMID:28492532 PMID:10398166 RGD:14700699 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GPC3 glypican 3 IEP protein:increased expression:liver (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23958494 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:27666373 PMID:28492532 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MIR193A microRNA 193a exacerbates HEP RNA:decreased expression:liver (human) RGD PMID:31541079 RGD:153344539 NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083 		JBrowse link
G MIR21 microRNA 21 IEP miRNA:increased expression:plasma, extracellular exosome RGD PMID:27601233 RGD:14695023 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337 		JBrowse link
G MIR34A microRNA 34a severity IEP miRNA:increased expression:liver RGD PMID:27046304 RGD:14695006 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777 		JBrowse link
G MKI67 marker of proliferation Ki-67 ameliorates IDA human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:35264596 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NAP1L1 nucleosome assembly protein 1 like 1 IEP mRNA:increased expression:liver (human) RGD PMID:12935928 RGD:9590075 NCBI chr12:76,036,585...76,084,685
Ensembl chr12:76,036,585...76,084,735 		JBrowse link
G NDRG4 NDRG family member 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283 		JBrowse link
G PCNA proliferating cell nuclear antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G RECQL RecQ like helicase IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790 		JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G SALL1 spalt like transcription factor 1 IEP embryonal subtype;protein:increased expression:liver, nucleus (human) RGD PMID:23822878 RGD:11556217 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP Embryonal Hepatoblastoma;protein:increased expression:liver (human) RGD PMID:23822878 RGD:11556217 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMO smoothened, frizzled class receptor IEP protein:increased expression:liver RGD PMID:21159571 RGD:150521618 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SPOP speckle type BTB/POZ protein IEP mRNA:decreased expression:liver (human) RGD PMID:24912477 RGD:153298925 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G ZFHX3 zinc finger homeobox 3 IEP protein:increased expression:liver (human) RGD PMID:33368532 RGD:151361168 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
hereditary Wilms' tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component IAGP ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related ClinVar PMID:25741868 PMID:28492532 NCBI chr11:10,751,246...10,779,746
Ensembl chr11:10,751,246...10,801,625 		JBrowse link
myoepithelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC090386.1 novel transcript, antisense to CELF4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:37,274,460...37,276,400
Ensembl chr18:37,273,706...37,276,572 		JBrowse link
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G AMPD3 adenosine monophosphate deaminase 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:10,450,388...10,507,579
Ensembl chr11:10,308,313...10,507,579 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ASMTL acetylserotonin O-methyltransferase like IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr  X:1,403,139...1,453,756
NCBI chr  Y:1,403,139...1,453,756
Ensembl chr  Y:1,403,139...1,453,762
Ensembl chr  X:1,403,139...1,453,762 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCDC28A coiled-coil domain containing 28A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:138,773,769...138,793,319
Ensembl chr 6:138,773,769...138,793,319 		JBrowse link
G CDCA2 cell division cycle associated 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:25,458,931...25,507,917
Ensembl chr 8:25,459,199...25,507,911 		JBrowse link
G CDCP1 CUB domain containing protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:45,082,277...45,146,482
Ensembl chr 3:45,082,277...45,146,422 		JBrowse link
G CELF4 CUGBP Elav-like family member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:37,242,844...37,565,798
Ensembl chr18:37,243,040...37,565,827 		JBrowse link
G CLIC6 chloride intracellular channel 6 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:34,668,994...34,718,223
Ensembl chr21:34,668,994...34,718,227 		JBrowse link
G CLSPN claspin IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:35,720,213...35,769,978
Ensembl chr 1:35,720,218...35,769,978 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G CORO2A coronin 2A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:98,120,975...98,192,637
Ensembl chr 9:98,120,975...98,192,637 		JBrowse link
G DAPK1 death associated protein kinase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G EHBP1 EH domain binding protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:62,673,878...63,046,487
Ensembl chr 2:62,673,851...63,046,487 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179 		JBrowse link
G EPHB6 EPH receptor B6 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:142,855,076...142,871,093
Ensembl chr 7:142,855,061...142,871,094 		JBrowse link
G EPPK1 epiplakin 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467 		JBrowse link
G ETV5 ETS variant transcription factor 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:186,046,314...186,109,089
Ensembl chr 3:186,046,314...186,110,318 		JBrowse link
G ETV5-AS1 ETV5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:186,079,170...186,080,947
Ensembl chr 3:186,079,170...186,080,947 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FAM168B family with sequence similarity 168 member B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:131,047,876...131,093,460
Ensembl chr 2:131,047,876...131,093,460 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GRIN3A glutamate ionotropic receptor NMDA type subunit 3A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:101,569,352...101,738,647
Ensembl chr 9:101,569,352...101,738,647 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:143,938,068...144,333,069
Ensembl chr 2:143,938,068...144,332,568 		JBrowse link
G HAS1 hyaluronan synthase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991 		JBrowse link
G HIVEP1 HIVEP zinc finger 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:12,007,693...12,212,048
Ensembl chr 6:12,008,762...12,164,999 		JBrowse link
G HRH2 histamine receptor H2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:116,574,398...116,667,755
Ensembl chr 1:116,574,399...116,667,755 		JBrowse link
G INTS3 integrator complex subunit 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:153,728,050...153,774,808
Ensembl chr 1:153,728,050...153,774,808 		JBrowse link
G ITGAL integrin subunit alpha L IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650 		JBrowse link
G LARP4B La ribonucleoprotein 4B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:806,914...988,341
Ensembl chr10:806,933...931,821 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LENG9 leukocyte receptor cluster member 9 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:54,461,732...54,463,778
Ensembl chr19:54,461,732...54,463,778 		JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:2,287,164...2,308,154
Ensembl chr19:2,287,164...2,308,154 		JBrowse link
G LOC130058743 ATAC-STARR-seq lymphoblastoid active region 10651 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:28,924,490...28,924,719 JBrowse link
G LRP10 LDL receptor related protein 10 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713 		JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MFHAS1 multifunctional ROCO family signaling regulator 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:8,783,354...8,893,630
Ensembl chr 8:8,783,354...8,893,630 		JBrowse link
G MLXIPL MLX interacting protein like IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP26 matrix metallopeptidase 26 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:4,704,784...4,992,429
Ensembl chr11:4,704,784...4,992,431 		JBrowse link
G MRRF mitochondrial ribosome recycling factor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:122,264,882...122,331,337
Ensembl chr 9:122,264,603...122,331,337 		JBrowse link
G NAPSA napsin A aspartic peptidase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:50,358,477...50,365,639
Ensembl chr19:50,358,472...50,365,830 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042 		JBrowse link
G PACSIN2 protein kinase C and casein kinase substrate in neurons 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr22:42,869,766...43,015,149
Ensembl chr22:42,835,412...43,015,149 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTGFR prostaglandin F receptor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:78,490,974...78,540,701
Ensembl chr 1:78,303,884...78,540,701 		JBrowse link
G PTPN21 protein tyrosine phosphatase non-receptor type 21 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:88,465,778...88,555,007
Ensembl chr14:88,465,778...88,555,007 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:28,904,421...28,925,238
Ensembl chr16:28,904,421...28,936,526 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RBM12B RNA binding motif protein 12B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:93,728,155...93,741,009
Ensembl chr 8:93,728,155...93,741,017 		JBrowse link
G RBM14-RBM4 RBM14-RBM4 readthrough IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:66,616,630...66,646,468
Ensembl chr11:66,616,626...66,646,469 		JBrowse link
G RBM4 RNA binding motif protein 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:66,638,703...66,668,380
Ensembl chr11:66,638,667...66,668,374 		JBrowse link
G RECQL5 RecQ like helicase 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:75,626,854...75,667,154
Ensembl chr17:75,626,845...75,667,189 		JBrowse link
G RPL36 ribosomal protein L36 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:5,690,295...5,691,875
Ensembl chr19:5,674,947...5,691,875 		JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SENP3 SUMO specific peptidase 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:7,561,919...7,571,969
Ensembl chr17:7,561,919...7,571,969 		JBrowse link
G SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:7,561,992...7,579,006
Ensembl chr17:7,563,287...7,578,715 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:58,498,333...58,511,992
Ensembl chr19:58,479,512...58,512,413 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr22:45,344,063...45,413,599
Ensembl chr22:45,344,063...45,413,619 		JBrowse link
G SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:20,009,359...20,319,026
Ensembl chr17:20,008,865...20,319,026 		JBrowse link
G SPEN spen family transcriptional repressor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G STIL STIL centriolar assembly protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STON1 stonin 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:48,530,154...48,598,513
Ensembl chr 2:48,529,383...48,598,513 		JBrowse link
G STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		JBrowse link
G SYT7 synaptotagmin 7 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:61,513,714...61,588,387
Ensembl chr11:61,513,714...61,581,148 		JBrowse link
G TANGO6 transport and golgi organization 6 homolog IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:68,843,531...69,085,182
Ensembl chr16:68,843,531...69,085,182 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TENM3 teneurin transmembrane protein 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TLN2 talin 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:62,390,550...62,844,631
Ensembl chr15:62,390,526...62,844,631 		JBrowse link
G TMCC3 transmembrane and coiled-coil domain family 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:94,567,122...94,650,557
Ensembl chr12:94,567,122...94,650,557 		JBrowse link
G TMEM121 transmembrane protein 121 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:105,526,583...105,530,198
Ensembl chr14:105,526,583...105,530,198 		JBrowse link
G TNKS1BP1 tankyrase 1 binding protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:57,299,642...57,324,952
Ensembl chr11:57,299,638...57,324,952 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSKS testis specific serine kinase substrate IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:49,739,760...49,763,306
Ensembl chr19:49,739,753...49,763,306 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VIPR2 vasoactive intestinal peptide receptor 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:159,028,175...159,144,867
Ensembl chr 7:159,028,175...159,144,867 		JBrowse link
G YLPM1 YLP motif containing 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:74,763,316...74,837,318
Ensembl chr14:74,763,316...74,859,435 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
nephroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 disease_progression IEP RGD PMID:11888090 RGD:2315560 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G AMER1 APC membrane recruitment protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G APOC3 apolipoprotein C3 IEP protein:increased expression:serum RGD PMID:22160518 RGD:7207220 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BCL2L1 BCL2 like 1 disease_progression IEP RGD PMID:15717629 RGD:1643482 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BCOR BCL6 corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCORL1 BCL6 corepressor like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO mRNA:decreased expression:kidney RGD PMID:9808158 RGD:2289034 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Wilms tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility IAGP
EXP		 DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G
ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar Annotator: match by term: Wilms tumor 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... RGD:2289049 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CCND2 cyclin D2 IEP RGD PMID:15797629 RGD:2289153 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CD44 CD44 molecule (IN blood group) IEP RGD PMID:12131349 RGD:2289361 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402 		JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression IEP RGD PMID:15797629 RGD:2289153 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B disease_progression IEP RGD PMID:14760081 RGD:2293605 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP protein:increased expression:kidney RGD PMID:17369505 RGD:2289679 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
IEP		 DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nephroblastoma
protein:increased expression:kidney		 CTD
ClinVar
RGD		 PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... RGD:2289834, RGD:2289833 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IEP RGD PMID:17634442 RGD:7257700 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DICER1 dicer 1, ribonuclease III EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP DNA:missense mutations, deletions:multiple (human) RGD PMID:22306653 RGD:11558020 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DROSHA drosha ribonuclease III EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IEP protein:increased expression:kidney RGD PMID:16932912 RGD:2289932 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity IEP protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients RGD PMID:12560388 RGD:2289966 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FZD6 frizzled class receptor 6 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 8:103,298,494...103,332,866
Ensembl chr 8:103,298,433...103,332,866 		JBrowse link
G FZD7 frizzled class receptor 7 IEP mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441 		JBrowse link
G GLIPR1 GLI pathogenesis related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18030365 NCBI chr12:75,480,755...75,503,863
Ensembl chr12:75,480,753...75,503,863 		JBrowse link
G GPC3 glypican 3 IAGP
EXP		 ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 More... NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility IDA
EXP		 associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11436121 RGD:2306181 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha severity IEP protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G IGF1R insulin like growth factor 1 receptor treatment IMP
IEP		 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 chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8252039 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP RGD PMID:9070652 RGD:7242956 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G JUP junction plakoglobin disease_progression IEP RGD PMID:17633921 RGD:2301745 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KDM4D lysine demethylase 4D IEP mRNA:increased expression:kidney (human) RGD PMID:24219278 RGD:9588525 NCBI chr11:94,973,709...94,999,519
Ensembl chr11:94,973,709...94,999,519 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression IEP RGD PMID:19010635 RGD:12910726 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1		 ClinVar PMID:8621495 PMID:12640141 PMID:15150775 PMID:15266301 PMID:16987884 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC130065239 ATAC-STARR-seq lymphoblastoid silent region 11093 IAGP ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:28492532 NCBI chr19:58,544,795...58,545,084 JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385 		JBrowse link
G MAX MYC associated factor X EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Nephroblastoma
ClinVar Annotator: match by term: Wilms tumor, somatic		 ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MLLT1 MLLT1 super elongation complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr19:6,210,381...6,279,975
Ensembl chr19:6,210,381...6,279,975 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:transition:cds:g.677C>T (human) RGD PMID:19346876 RGD:6893546 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor severity ISO
IEP		 protein:increased expression:kidney (mouse)
mRNA:decreased expression:tumor (human)		 RGD PMID:21983638 PMID:18260125 RGD:7207786, RGD:7207840 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NONO non-POU domain containing octamer binding EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 IEP mRNA:increased expression:kidney RGD PMID:12165855 RGD:2299168 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		JBrowse link
G PAX2 paired box 2 ISO
IEP		 mRNA:increased expression:kidney RGD PMID:7937920 PMID:12057921 RGD:2316757, RGD:2316755 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PCNA proliferating cell nuclear antigen disease_progression IEP RGD PMID:11869017 RGD:2315007 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:kidney RGD PMID:16945639 RGD:2300206 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G REST RE1 silencing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26551668 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SERPINF1 serpin family F member 1 IEP protein:decreased expression:kidney RGD PMID:16863836 RGD:2312354 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SIX1 SIX homeobox 1 severity IAGP
EXP
IEP		 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 chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX2 SIX homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 severity IEP RGD PMID:22483234 RGD:12879482 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IEP protein:increased serine phosphorylation:kidney RGD PMID:16799645 RGD:2291893 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TERC telomerase RNA component disease_progression IEP RGD PMID:16172460 RGD:2291966 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression IEP RGD PMID:16172460 RGD:2291966 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TET2-AS1 TET2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,178,063 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 IMP RGD PMID:11466614 RGD:2290439 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912 		JBrowse link
G TOP2A DNA topoisomerase II alpha IEP mRNA:increased expression:kidney RGD PMID:12438255 PMID:16556665 RGD:2315132, RGD:2315131 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TP73 tumor protein p73 IAGP DNA:loss of heterozygosity:kidney RGD PMID:10760569 RGD:2291834 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP ClinVar Annotator: match by term: Nephroblastoma
ClinVar Annotator: match by term: Wilms tumor 1		 ClinVar PMID:25741868 PMID:28492532 PMID:32699065 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G VEGFC vascular endothelial growth factor C disease_progression IEP RGD PMID:17257131 RGD:2315481 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO
EXP		 protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11880179 PMID:11880179 RGD:625549 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G WIF1 WNT inhibitory factor 1 IEP mRNA:increased expression:kidney RGD PMID:16575872 RGD:2291870 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305 		JBrowse link
G WT1 WT1 transcription factor IAGP
EXP
IEA
IEP		 DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human)
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic
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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPO5 exportin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038 		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 IMP human cells in a mouse model RGD PMID:21366804 RGD:155630611 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		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 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,406,844...232,410,714
Ensembl chr 2:232,406,844...232,410,714 		JBrowse link
G ALPI alkaline phosphatase, intestinal IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,456,153...232,460,753
Ensembl chr 2:232,456,125...232,460,753 		JBrowse link
G ALPP alkaline phosphatase, placental IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,378,751...232,382,889
Ensembl chr 2:232,378,724...232,382,889 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ATG16L1 autophagy related 16 like 1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,251,673...233,295,669
Ensembl chr 2:233,210,051...233,295,674 		JBrowse link
G B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,395,710...231,401,164
Ensembl chr 2:231,395,710...231,401,164 		JBrowse link
G C2orf72 chromosome 2 open reading frame 72 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,037,523...231,049,719
Ensembl chr 2:231,037,523...231,049,719 		JBrowse link
G CAB39 calcium binding protein 39 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,712,842...230,821,075
Ensembl chr 2:230,712,842...230,821,075 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COPS7B COP9 signalosome subunit 7B IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,781,671...231,809,253
Ensembl chr 2:231,781,671...231,809,254 		JBrowse link
G CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component IAGP ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chr11:10,751,246...10,779,746
Ensembl chr11:10,751,246...10,801,625 		JBrowse link
G DGKD diacylglycerol kinase delta IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Perlman syndrome
OMIM:267000
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,742,750...233,743,998
Ensembl chr 2:233,743,188...233,743,916
Ensembl chr 2:233,743,188...233,743,916 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EFHD1 EF-hand domain family member D1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,606,057...232,682,776
Ensembl chr 2:232,606,057...232,682,776 		JBrowse link
G EIF4E2 eukaryotic translation initiation factor 4E family member 2 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,550,689...232,583,644
Ensembl chr 2:232,550,659...232,583,644 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605 		JBrowse link
G GPR55 G protein-coupled receptor 55 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,907,328...230,961,201
Ensembl chr 2:230,907,318...230,961,066 		JBrowse link
G HJURP Holliday junction recognition protein IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,836,702...233,854,535
Ensembl chr 2:233,833,416...233,854,566 		JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042 		JBrowse link
G ITM2C integral membrane protein 2C IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,864,185...230,879,254
Ensembl chr 2:230,864,639...230,879,248 		JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565 		JBrowse link
G LOC122861312 Sharpr-MPRA regulatory region 7061 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:10508986 PMID:22306653 NCBI chr 2:232,137,839...232,138,133 JBrowse link
G LOC122861313 OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:233141549-233142064 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:22306653 PMID:28492532 NCBI chr 2:232,276,839...232,277,354 JBrowse link
G LOC129935854 ATAC-STARR-seq lymphoblastoid active region 17318 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar
G LOC129935856 ATAC-STARR-seq lymphoblastoid silent region 12455 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G LOC129935857 ATAC-STARR-seq lymphoblastoid silent region 12456 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:22306653 PMID:28492532
G LOC129935858 ATAC-STARR-seq lymphoblastoid silent region 12457 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:22306653 PMID:28492532
G LOC129935859 ATAC-STARR-seq lymphoblastoid active region 17319 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G LOC129935860 ATAC-STARR-seq lymphoblastoid active region 17320 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G LOC129935861 ATAC-STARR-seq lymphoblastoid active region 17321 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532
G MIR562 microRNA 562 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:10508986 PMID:22306653 PMID:28492532 NCBI chr 2:232,172,653...232,172,747
Ensembl chr 2:232,172,653...232,172,747 		JBrowse link
G MROH2A maestro heat like repeat family member 2A IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,775,724...233,833,418
Ensembl chr 2:233,775,679...233,833,423 		JBrowse link
G NCL nucleolin IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,453,531...231,464,484
Ensembl chr 2:231,453,531...231,483,641 		JBrowse link
G NEU2 neuraminidase 2 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,032,672...233,035,057
Ensembl chr 2:233,032,672...233,035,057 		JBrowse link
G NGEF neuronal guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,878,701...233,013,256
Ensembl chr 2:232,878,701...233,013,256 		JBrowse link
G NMUR1 neuromedin U receptor 1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,518,455...231,530,445
Ensembl chr 2:231,523,187...231,530,445 		JBrowse link
G NPPC natriuretic peptide C IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G PSMD1 proteasome 26S subunit, non-ATPase 1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,056,867...231,172,827
Ensembl chr 2:231,056,845...231,173,116 		JBrowse link
G PTMA prothymosin alpha IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551 		JBrowse link
G SAG S-antigen visual arrestin IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SNORC secondary ossification center associated regulator of chondrocyte maturation IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,866,451...232,878,700
Ensembl chr 2:232,857,270...232,878,708 		JBrowse link
G SNORD20 small nucleolar RNA, C/D box 20 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,456,444...231,456,523
Ensembl chr 2:231,456,444...231,456,523 		JBrowse link
G SNORD82 small nucleolar RNA, C/D box 82 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,460,368...231,460,442
Ensembl chr 2:231,460,371...231,460,440 		JBrowse link
G SP100 SP100 nuclear antigen IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,416,201...230,545,606
Ensembl chr 2:230,415,942...230,545,606 		JBrowse link
G SP110 SP110 nuclear body protein IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SP140 SP140 nuclear body protein IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,186,151...230,316,571
Ensembl chr 2:230,203,110...230,313,215 		JBrowse link
G SP140L SP140 nuclear body protein like IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,327,193...230,403,732
Ensembl chr 2:230,327,184...230,403,732 		JBrowse link
G SPATA3 spermatogenesis associated 3 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:230,996,121...231,020,109
Ensembl chr 2:230,990,324...231,025,055 		JBrowse link
G SPP2 secreted phosphoprotein 2 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:234,050,702...234,077,134
Ensembl chr 2:234,050,679...234,077,134 		JBrowse link
G TEX44 testis expressed 44 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:231,592,864...231,594,276
Ensembl chr 2:231,592,864...231,594,276 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		JBrowse link
G TRPM8 transient receptor potential cation channel subfamily M member 8 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,917,373...234,019,522
Ensembl chr 2:233,917,373...234,019,522 		JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300 		JBrowse link
G UGT1A10 UDP glucuronosyltransferase family 1 member A10 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,636,448...233,773,300
Ensembl chr 2:233,636,448...233,773,300 		JBrowse link
G UGT1A3 UDP glucuronosyltransferase family 1 member A3 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,729,042...233,773,300
Ensembl chr 2:233,729,042...233,773,300 		JBrowse link
G UGT1A4 UDP glucuronosyltransferase family 1 member A4 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,718,736...233,773,300
Ensembl chr 2:233,718,736...233,773,300 		JBrowse link
G UGT1A5 UDP glucuronosyltransferase family 1 member A5 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,712,907...233,773,300
Ensembl chr 2:233,712,907...233,773,300 		JBrowse link
G UGT1A6 UDP glucuronosyltransferase family 1 member A6 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,691,702...233,773,300
Ensembl chr 2:233,691,607...233,773,300 		JBrowse link
G UGT1A7 UDP glucuronosyltransferase family 1 member A7 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,681,901...233,773,300
Ensembl chr 2:233,681,901...233,773,300 		JBrowse link
G UGT1A8 UDP glucuronosyltransferase family 1 member A8 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,617,633...233,773,300
Ensembl chr 2:233,617,633...233,773,300 		JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300 		JBrowse link
G USP40 ubiquitin specific peptidase 40 IAGP ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chr 2:233,475,526...233,566,782
Ensembl chr 2:233,475,526...233,566,782 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
OMIM
RGD		 PMID:10029085 RGD:1599086 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		JBrowse link
pleuropulmonary blastoma 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 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,934,166...93,976,570
Ensembl chr14:93,934,166...93,976,739 		JBrowse link
G BTBD7 BTB domain containing 7 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,237,550...93,333,036
Ensembl chr14:93,237,550...93,333,092 		JBrowse link
G COX8C cytochrome c oxidase subunit 8C IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,347,182...93,348,356
Ensembl chr14:93,347,182...93,348,356 		JBrowse link
G DDX24 DEAD-box helicase 24 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,048,287...94,081,202
Ensembl chr14:94,048,287...94,081,202 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP
EXP
ISO		 ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
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:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... RGD:11552609, RGD:149735200 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G FAM181A family with sequence similarity 181 member A IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,918,894...93,929,608
Ensembl chr14:93,918,894...93,929,608 		JBrowse link
G GSC goosecoid homeobox IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G IFI27 interferon alpha inducible protein 27 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,105,894...94,116,690
Ensembl chr14:94,104,836...94,116,695 		JBrowse link
G IFI27L1 interferon alpha inducible protein 27 like 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,081,310...94,102,709
Ensembl chr14:94,081,301...94,103,846 		JBrowse link
G IFI27L2 interferon alpha inducible protein 27 like 2 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,127,781...94,129,604
Ensembl chr14:94,127,779...94,130,253 		JBrowse link
G LOC130056358 ATAC-STARR-seq lymphoblastoid silent region 6042 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar NCBI chr14:95,157,240...95,157,699 JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,026,340...94,048,930
Ensembl chr14:94,026,340...94,048,930 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,174,322...94,279,734
Ensembl chr14:94,146,128...94,279,734 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,718,298...93,788,994
Ensembl chr14:93,718,298...93,788,485 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800 		JBrowse link
G SERPINA12 serpin family A member 12 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844 		JBrowse link
G SERPINA2 serpin family A member 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,364,318...94,366,702
Ensembl chr14:94,364,316...94,366,698 		JBrowse link
G SERPINA3 serpin family A member 3 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055 		JBrowse link
G SERPINA4 serpin family A member 4 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913 		JBrowse link
G SERPINA5 serpin family A member 5 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,581,426...94,593,118
Ensembl chr14:94,561,442...94,593,118 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SERPINA9 serpin family A member 9 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,462,721...94,476,197
Ensembl chr14:94,462,717...94,479,689 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UNC79 unc-79 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,333,182...93,707,876
Ensembl chr14:93,333,219...93,707,876 		JBrowse link
G YY1 YY1 transcription factor ISS OMIM:601200 MouseDO NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		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 IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr10:22,321,099...22,331,484
Ensembl chr10:22,321,099...22,331,484 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G GPC3 glypican 3 disease_progression HEP mRNA, protein:increased expression:kidney (human) RGD PMID:25366870 RGD:243065136 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IDA associated with loss of imprinting;DNA:hypermethylation:promoter, kidney (human) RGD PMID:11431321 RGD:151356740 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G PAX2 paired box 2 IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G SALL1 spalt like transcription factor 1 IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SIX2 SIX homeobox 2 IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TEK TEK receptor tyrosine kinase IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G VEGFA vascular endothelial growth factor A IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WT1 WT1 transcription factor IMP human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 IEP protein:increased expression:kidney (human) RGD PMID:20212451 RGD:7207430 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G PGBD5 piggyBac transposable element derived 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28504702 NCBI chr 1:230,314,490...230,426,332
Ensembl chr 1:230,314,490...230,426,332 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP
IEP
EXP		 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 chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
Rhabdoid Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130063552 ATAC-STARR-seq lymphoblastoid active region 14002 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr19:11,036,225...11,036,384 JBrowse link
G LOC130063553 ATAC-STARR-seq lymphoblastoid active region 14003 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr19:11,046,350...11,046,399 JBrowse link
G LOC130063554 ATAC-STARR-seq lymphoblastoid active region 14004 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr19:11,048,997...11,049,046 JBrowse link
G LOC130063555 ATAC-STARR-seq lymphoblastoid active region 14005 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr19:11,049,137...11,049,426 JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP
EXP		 ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8269278 PMID:9536098 PMID:11085541 PMID:15756273 PMID:16199547 More... NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein IEP protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
thymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 IEP associated with Myasthenia Gravis RGD PMID:20728226 RGD:5148025 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ameliorates HEP mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ameliorates HEP mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636 		JBrowse link
G BSG basigin (Ok blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility IAGP associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) RGD PMID:24260492 RGD:9589098 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Thymoma ClinVar PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 More... NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Thymoma ClinVar PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G NAIP NLR family apoptosis inhibitory protein ameliorates HEP mRNA:increased expression:thymus (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339 		JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24974848 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 IEP RGD PMID:16803529 RGD:2296053 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:26619011 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) RGD PMID:17367465 RGD:2292170 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More... NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PROM1 prominin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21919130 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		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 IAGP ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
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 chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324 		JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar NCBI chr11:31,810,888...31,827,240 JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: 11p partial monosomy syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome		 ClinVar PMID:8621495 PMID:12640141 PMID:15266301 PMID:16987884 PMID:25741868 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G PAX6 paired box 6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome		 CTD
ClinVar		 PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G WT1 WT1 transcription factor IEA
IAGP
EXP		 ClinVar Annotator: match by term: 11p partial monosomy syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION 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:1658787 More... RGD:1331525 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 IAGP ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP
EXP		 ClinVar Annotator: match by term: Wilms tumor 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18836444 NCBI chr11:1,998,202...2,003,509 JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 IAGP ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chr11:1,947,332...2,014,944
Ensembl chr11:1,947,278...1,984,522 		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 IAGP
EXP		 ClinVar Annotator: match by term: Wilms tumor 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11284034 PMID:15459955 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		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 IAGP
EXP		 ClinVar Annotator: match by term: Wilms tumor 6
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:26551668 PMID:28492532 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Neoplasms by Histologic Type 6406
        Complex and Mixed Neoplasms 395
          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 + 72
          mesenchymoma + 0
          mixed cell type cancer + 27
          myoepithelioma 104
          nephroblastoma + 164
          pleomorphic adenoma 1
          pulmonary blastoma + 27
          rhabdoid cancer + 13
          thymoma + 14
paths to the root