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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:nephroblastoma
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Accession:DOID:2154 term browser browse the term
Definition:A kidney cancer that affects the kidneys and typically located_in children. (DO)
Synonyms:exact_synonym: WT1;   Wilm tumor;   Wilm's tumor;   Wilms tumor;   Wilms tumor 1;   adult nephroblastoma;   adult renal Wilms' tumor;   bilateral Wilms tumor;   childhood renal Wilms' cancer;   nephroblastomas;   renal Wilms tumor
 related_synonym: Wilms tumor, somatic;   Wilms tumor, susceptibility to;   childhood renal Wilms tumor
 primary_id: MESH:D009396
 alt_id: MIM:194070
 xref: EFO:0000212;   EFO:1000626;   ICD-O:M8960/3;   ICDO:8960/3;   MIM:PS194070;   MONDO:0006058;   NCI:C158786;   NCI:C27730;   NCI:C3267;   NCI:C40407;   NCI:C60478;   NCI:C6180
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
nephroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624898:2,704,322...2,731,918
Ensembl chrNW_004624898:2,724,042...2,727,419 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:22160518 RGD:7207220 NCBI chrNW_004624784:12,244,565...12,246,790
Ensembl chrNW_004624784:12,244,646...12,246,790 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142 		JBrowse link
G Bcl2l1 BCL2 like 1 disease_progression ISO RGD PMID:15717629 RGD:1643482 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		JBrowse link
G Bcorl1 BCL6 corepressor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO mRNA:decreased expression:kidney RGD PMID:9808158 RGD:2289034 NCBI chrNW_004624741:23,658,214...23,743,227
Ensembl chrNW_004624741:23,658,004...23,737,742 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Wilms tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Brca2 BRCA2 DNA repair associated susceptibility ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic OMIM
ClinVar		 PMID:251866 PMID:278235 PMID:8589730 PMID:8673090 PMID:8988179 More... NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 NCBI chrNW_004624797:13,921,830...13,932,973 JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15797629 RGD:2289153 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO RGD PMID:12131349 RGD:2289361 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
G Cdk4 cyclin dependent kinase 4 disease_progression ISO RGD PMID:15797629 RGD:2289153 NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B disease_progression ISO RGD PMID:14760081 RGD:2293605 NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 More... NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624847:2,786,560...2,863,800
Ensembl chrNW_004624847:2,787,319...2,863,853 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 More... NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		JBrowse link
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 ISO DNA:missense mutations, deletions:multiple (human) RGD PMID:22306653 RGD:11558020 NCBI chrNW_004624843:4,900,810...5,196,827
Ensembl chrNW_004624843:4,901,316...5,196,827 		JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624759:22,949,225...23,082,263
Ensembl chrNW_004624759:22,949,150...23,082,487 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression:kidney RGD PMID:16932912 RGD:2289932 NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 severity ISO protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients RGD PMID:12560388 RGD:2289966 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chrNW_004624763:19,861,837...19,888,626 JBrowse link
G Fzd7 frizzled class receptor 7 ISO mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chrNW_004624765:14,399,143...14,402,970 JBrowse link
G Glipr1 GLI pathogenesis related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18030365 NCBI chrNW_004624750:22,556,443...22,610,963
Ensembl chrNW_004624750:22,556,713...22,573,699 		JBrowse link
G Gpc3 glypican 3 ISO 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 | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic		 OMIM
ClinVar		 PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 More... NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624797:13,005,310...13,116,414
Ensembl chrNW_004624797:13,002,646...13,116,180 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 NCBI chrNW_004624797:14,148,580...14,184,471 JBrowse link
G Igf1r insulin like growth factor 1 receptor treatment ISO mRNA:increased expression:kidney (human)
human cells in a mouse model		 RGD PMID:8390684 PMID:22529373 RGD:12904709 RGD:7242789 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO RGD PMID:9070652 RGD:7242956 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Jup junction plakoglobin disease_progression ISO RGD PMID:17633921 RGD:2301745 NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G Kdm4d lysine demethylase 4D ISO mRNA:increased expression:kidney (human) RGD PMID:24219278 RGD:9588525 NCBI chrNW_004624735:39,640,090...39,695,833 JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO RGD PMID:19010635 RGD:12910726 NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Lin28a lin-28 homolog A ISO OMIM:194070 MouseDO NCBI chrNW_004624764:10,426,168...10,441,541 JBrowse link
G Map3k4 mitogen-activated protein kinase kinase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624855:2,174,141...2,298,219
Ensembl chrNW_004624855:2,174,097...2,298,259 		JBrowse link
G Max MYC associated factor X ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624734:35,925,827...35,952,375 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic ClinVar PMID:25741868 PMID:26822237 NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
G Mllt1 MLLT1 super elongation complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624828:4,055,244...4,110,246
Ensembl chrNW_004624828:4,093,502...4,110,350 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19346876 RGD:6893546 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor severity ISO mRNA:decreased expression:tumor (human)
protein:increased expression:kidney (mouse)		 RGD PMID:18260125 PMID:21983638 RGD:7207786 RGD:7207840 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G Nono non-POU domain containing octamer binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO mRNA:increased expression:kidney RGD PMID:12165855 RGD:2299168 NCBI chrNW_004624863:442,465...609,159
Ensembl chrNW_004624863:439,541...525,918 		JBrowse link
G Pax2 paired box 2 ISO mRNA:increased expression:kidney RGD PMID:7937920 PMID:12057921 RGD:2316755 RGD:2316757 NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930 		JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:11869017 RGD:2315007 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:10402475 PMID:12713262 PMID:17603795 PMID:21362501 PMID:28492532 NCBI chrNW_004624797:14,081,381...14,140,180
Ensembl chrNW_004624797:14,081,302...14,128,487 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:kidney RGD PMID:16945639 RGD:2300206 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Rest RE1 silencing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551668 NCBI chrNW_004624761:12,464,243...12,495,294 JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:kidney RGD PMID:16863836 RGD:2312354 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Six1 SIX homeobox 1 severity ISO DNA:missense mutation:cds:p.Q177R (human)
protein:increased expression:kidney, blastema (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22180226 PMID:25670083 PMID:28825729 RGD:11561953 RGD:11561963 NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671 		JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624738:26,442,935...26,447,100
Ensembl chrNW_004624738:26,442,965...26,446,942 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 severity ISO RGD PMID:22483234 RGD:12879482 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:16799645 RGD:2291893 NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:16172460 RGD:2291966 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:26822237 NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:11466614 RGD:2290439 NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Tp73 tumor protein p73 ISO DNA:loss of heterozygosity:kidney RGD PMID:10760569 RGD:2291834 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G Trim28 tripartite motif containing 28 ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 ClinVar PMID:25741868 PMID:28492532 PMID:32699065 NCBI chrNW_004624832:49,324...56,113 JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chrNW_004624751:439,195...459,033
Ensembl chrNW_004624751:439,119...459,080 		JBrowse link
G Vegfc vascular endothelial growth factor C disease_progression ISO RGD PMID:17257131 RGD:2315481 NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO protein:decreased expression:kidney
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11880179 RGD:625549 NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
G Wif1 WNT inhibitory factor 1 ISO mRNA:increased expression:kidney RGD PMID:16575872 RGD:2291870 NCBI chrNW_004624802:3,248,934...3,333,263
Ensembl chrNW_004624802:3,248,964...3,333,338 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor | 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		 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407 		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 chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004624766:20,235,556...20,293,952
Ensembl chrNW_004624766:20,235,589...20,282,145 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004624766:20,343,776...20,536,627
Ensembl chrNW_004624766:20,343,803...20,531,873 		JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004624766:20,279,082...20,343,857
Ensembl chrNW_004624766:20,285,362...20,343,659 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004624766:20,536,581...20,554,589
Ensembl chrNW_004624766:20,536,233...20,554,759 		JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chrNW_004624766:20,732,395...20,740,256
Ensembl chrNW_004624766:20,732,396...20,740,839 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 More... NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		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 ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624766:2,823,561...2,851,742
Ensembl chrNW_004624766:2,823,229...2,851,742 		JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,237,041...5,239,806 JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,483,974...4,588,546
Ensembl chrNW_004624843:4,486,762...4,573,553 		JBrowse link
G Atg16l1 autophagy related 16 like 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,797,725...5,838,768
Ensembl chrNW_004624843:5,805,069...5,838,741 		JBrowse link
G B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,603,014...4,606,757
Ensembl chrNW_004624843:4,603,181...4,605,744 		JBrowse link
G Cab39 calcium binding protein 39 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,129,755...4,217,406
Ensembl chrNW_004624843:4,130,052...4,217,540 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,287,362...5,293,507
Ensembl chrNW_004624843:5,287,169...5,293,593 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,297,025...5,301,714
Ensembl chrNW_004624843:5,297,059...5,301,699 		JBrowse link
G Cops7b COP9 signalosome subunit 7B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,776,689...4,801,692
Ensembl chrNW_004624843:4,780,374...4,801,692 		JBrowse link
G Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Predisposition to Wilms tumor ClinVar PMID:25099282 PMID:28492532 NCBI chrNW_004624766:2,823,561...2,851,742
Ensembl chrNW_004624766:2,823,229...2,851,742 		JBrowse link
G CUNH2orf72 chromosome unknown C2orf72 homolog ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,354,641...4,364,688
Ensembl chrNW_004624843:4,354,861...4,362,177 		JBrowse link
G Dgkd diacylglycerol kinase delta ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,879,335...5,959,525
Ensembl chrNW_004624843:5,899,538...5,957,422 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:25741868 NCBI chrNW_004624751:27,760,665...27,786,403
Ensembl chrNW_004624751:27,760,776...27,785,613 		JBrowse link
G Dis3l2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome OMIM
ClinVar		 PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 More... NCBI chrNW_004624843:4,900,810...5,196,827
Ensembl chrNW_004624843:4,901,316...5,196,827 		JBrowse link
G Efhd1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,346,767...5,377,596 JBrowse link
G Eif4e2 eukaryotic translation initiation factor 4E family member 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,303,157...5,332,228
Ensembl chrNW_004624843:5,303,172...5,332,228 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,391,725...5,538,980
Ensembl chrNW_004624843:5,420,352...5,537,217 		JBrowse link
G Gpr55 G protein-coupled receptor 55 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,263,818...4,311,348
Ensembl chrNW_004624843:4,263,659...4,282,131 		JBrowse link
G Hjurp Holliday junction recognition protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624847:166,511...179,881 JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,407,055...4,424,585
Ensembl chrNW_004624843:4,408,424...4,424,168 		JBrowse link
G Itm2c integral membrane protein 2C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,232,482...4,243,079
Ensembl chrNW_004624843:4,232,588...4,242,147 		JBrowse link
G Kcnj13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,460,452...5,471,478
Ensembl chrNW_004624843:5,460,193...5,471,250 		JBrowse link
G Ncl nucleolin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,620,501...4,630,521 JBrowse link
G Neu2 neuraminidase 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,666,959...5,671,833
Ensembl chrNW_004624843:5,665,448...5,670,832 		JBrowse link
G Ngef neuronal guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,558,053...5,648,869
Ensembl chrNW_004624843:5,557,839...5,648,871 		JBrowse link
G Nmur1 neuromedin U receptor 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,655,198...4,659,942 JBrowse link
G Nppc natriuretic peptide C ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,869,278...4,873,444
Ensembl chrNW_004624843:4,869,614...4,873,448 		JBrowse link
G Pde6d phosphodiesterase 6D ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,741,211...4,776,404
Ensembl chrNW_004624843:4,741,220...4,776,381 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,281,581...5,287,060
Ensembl chrNW_004624843:5,281,709...5,287,026 		JBrowse link
G Psmd1 proteasome 26S subunit, non-ATPase 1 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,369,592...4,464,285
Ensembl chrNW_004624843:4,369,590...4,464,287 		JBrowse link
G Ptma prothymosin alpha ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,728,963...4,732,659
Ensembl chrNW_004624843:4,728,963...4,732,839 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,837,105...5,870,417
Ensembl chrNW_004624843:5,844,823...5,870,300 		JBrowse link
G Snorc secondary ossification center associated regulator of chondrocyte maturation ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,551,945...5,556,269
Ensembl chrNW_004624843:5,552,042...5,556,262 		JBrowse link
G Sp100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:3,982,920...4,058,081
Ensembl chrNW_004624843:3,983,040...4,061,930 		JBrowse link
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:3,894,200...3,919,417 JBrowse link
G Spata3 spermatogenesis associated 3 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,333,492...4,341,109 JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624847:345,296...372,206
Ensembl chrNW_004624847:345,034...374,249 		JBrowse link
G Tex44 testis expressed 44 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:4,673,112...4,674,285 JBrowse link
G Trpm8 transient receptor potential cation channel subfamily M member 8 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624847:180,040...320,494
Ensembl chrNW_004624847:194,497...320,600 		JBrowse link
G Usp40 ubiquitin specific peptidase 40 ISO ClinVar Annotator: match by term: Perlman syndrome ClinVar PMID:28492532 NCBI chrNW_004624843:5,958,316...6,042,471
Ensembl chrNW_004624843:5,961,591...6,038,215 		JBrowse link
renal Wilms' tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624796:6,277,201...6,282,830
Ensembl chrNW_004624796:6,274,561...6,282,984 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Gpc3 glypican 3 disease_progression ISO mRNA, protein:increased expression:kidney (human) RGD PMID:25366870 RGD:243065136 NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742 		JBrowse link
G Pax2 paired box 2 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617 		JBrowse link
G Six2 SIX homeobox 2 ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624738:26,442,935...26,447,100
Ensembl chrNW_004624738:26,442,965...26,446,942 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624736:31,345,774...31,473,727 JBrowse link
G Vegfa vascular endothelial growth factor A ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wt1 WT1 transcription factor ISO human tumor in mouse model RGD PMID:18467665 RGD:155631277 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624766:20,343,776...20,536,627
Ensembl chrNW_004624766:20,343,803...20,531,873 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chrNW_004624766:20,536,581...20,554,589
Ensembl chrNW_004624766:20,536,233...20,554,759 		JBrowse link
G Wt1 WT1 transcription factor ISO 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:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
Wilms Tumor 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chrNW_004624767:14,818,262...14,826,620 JBrowse link
Wilms Tumor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou6f2 POU class 6 homeobox 2 susceptibility ISO ClinVar Annotator: match by term: Wilms tumor 5 OMIM
ClinVar		 PMID:11284034 PMID:15459955 NCBI chrNW_004624740:21,512,810...21,961,131 JBrowse link
Wilms Tumor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1 silencing transcription factor susceptibility ISO ClinVar Annotator: match by term: Wilms tumor 6 ClinVar
OMIM		 PMID:26551668 PMID:28492532 NCBI chrNW_004624761:12,464,243...12,495,294 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    syndrome 9561
      Hereditary Neoplastic Syndromes 1215
        nephroblastoma 123
          Denys-Drash syndrome 7
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Perlman syndrome 39
          WAGR syndrome + 3
          Wilms Tumor 2 1
          Wilms Tumor 3 0
          Wilms Tumor 4 0
          Wilms Tumor 5 1
          Wilms Tumor 6 1
          epithelial predominant Wilms' tumor 0
          hereditary Wilms' tumor 1
          metachronous kidney Wilms' tumor 0
          mixed cell type kidney Wilms' tumor 0
          renal Wilms' tumor + 10
          stromal predominant kidney Wilms' tumor 0
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      Urogenital Diseases 4418
        urinary system disease 2207
          kidney disease 1989
            Kidney Neoplasms 461
              kidney cancer 437
                nephroblastoma 123
                  Denys-Drash syndrome 7
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Perlman syndrome 39
                  WAGR syndrome + 3
                  Wilms Tumor 2 1
                  Wilms Tumor 3 0
                  Wilms Tumor 4 0
                  Wilms Tumor 5 1
                  Wilms Tumor 6 1
                  epithelial predominant Wilms' tumor 0
                  hereditary Wilms' tumor 1
                  metachronous kidney Wilms' tumor 0
                  mixed cell type kidney Wilms' tumor 0
                  renal Wilms' tumor + 10
                  stromal predominant kidney Wilms' tumor 0
paths to the root