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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 malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
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: OMIM:194070
 xref: ICD-O:M8960/3;   NCI:C158786;   NCI:C27730;   NCI:C3267;   NCI:C40407;   NCI:C60478;   NCI:C6180;   OMIM:PS194070
For additional species annotation, visit the Alliance of Genome Resources.


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 Abcb1a ATP binding cassette subfamily B member 1A disease_progression ISO RGD PMID:11888090 RGD:2315560 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:64,686,620...64,702,504
Ensembl chr  X:64,686,623...64,702,441
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:22160518 RGD:7207220 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Bcl2l1 Bcl2-like 1 disease_progression ISO RGD PMID:15717629 RGD:1643482 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Bmp7 bone morphogenetic protein 7 IEP mRNA:decreased expression:kidney RGD PMID:9808158 RGD:2289034 NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Wilm's tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G
ClinVar Annotator: match by term: Bilateral Wilms tumor
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar
OMIM
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19654294 PMID:19863560 PMID:19949876 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30350268 PMID:32295079, PMID:15689453 RGD:2289049 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15797629 RGD:2289153 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:12131349 RGD:2289361 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chr 9:66,059,765...66,153,729
Ensembl chr 9:66,058,047...66,148,087
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO RGD PMID:15797629 RGD:2289153 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B disease_progression ISO RGD PMID:14760081 RGD:2293605 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO protein:increased expression:kidney RGD PMID:17369505 RGD:2289679 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO protein:increased expression:kidney RGD PMID:17369505 RGD:2289679
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:10617473 PMID:11719428 PMID:11967536 PMID:15492928 PMID:18759107 PMID:19030985 PMID:20722467 PMID:21244692 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22520019 PMID:22691310 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23409019 PMID:23415889 PMID:24723567 PMID:26822237 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms Tumor
DNA:mutations: :multiple
CTD
ClinVar
PMID:9065402 PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:21237236 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 PMID:28825729, PMID:12890743, PMID:12239584 RGD:2289833, RGD:2289834 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:17634442 RGD:7257700 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr11:86,852,682...86,885,233
Ensembl chr11:86,852,711...86,885,224
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO DNA:missense mutations, deletions:multiple (human) RGD PMID:22306653 RGD:11558020 NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
JBrowse link
G Drosha drosha ribonuclease III ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 2:62,887,267...63,000,307
Ensembl chr 2:62,887,267...62,999,572
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO protein:increased expression:kidney RGD PMID:16932912 RGD:2289932 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO RGD PMID:12560388 RGD:2289966 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Wilms Tumor ClinVar PMID:26822237 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Fzd7 frizzled class receptor 7 ISO mRNA:increased expression:kidney RGD PMID:12057921 RGD:2316755 NCBI chr 9:66,305,731...66,308,550
Ensembl chr 9:66,305,731...66,308,550
JBrowse link
G Glipr1 GLI pathogenesis-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18030365 NCBI chr 7:54,767,828...54,778,823
Ensembl chr 7:54,767,827...54,778,848
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by OMIM:194070
OMIM
ClinVar
PMID:8589713 PMID:8958336 PMID:9192268 PMID:9536098 PMID:10402475 PMID:10814714 PMID:12085187 PMID:12713262 PMID:16199547 PMID:17576681 PMID:17603795 PMID:17850639 PMID:19215053 PMID:20683991 PMID:20950395 PMID:21362501 PMID:21434539 PMID:24033266 PMID:24169032 PMID:24214682 PMID:24459012 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29637653 PMID:31304847 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G H19 H19, imprinted maternally expressed transcript (non-protein coding) susceptibility ISO associated with Beckwith-Wiedemann Syndrome;DNA:hypermethylation RGD PMID:11436121 RGD:2306181 NCBI chr 1:215,744,404...215,747,080 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment ISO human cells in a mouse model
mRNA:increased expression:kidney (human)
RGD PMID:22529373, PMID:8390684, PMID:8390684 RGD:7242789, RGD:12904709, RGD:12904709 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8252039 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO RGD PMID:9070652 RGD:7242956 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Jup junction plakoglobin disease_progression ISO RGD PMID:17633921 RGD:2301745 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kdm4d lysine demethylase 4D ISO mRNA:increased expression:kidney (human) RGD PMID:24219278 RGD:9588525 NCBI chr 8:12,968,192...12,993,651
Ensembl chr 8:13,511,805...13,513,337
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase disease_progression ISO RGD PMID:19010635 RGD:12910726 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lin28a lin-28 homolog A ISS OMIM:194070 MouseDO NCBI chr 5:152,230,343...152,247,873
Ensembl chr 5:152,230,343...152,247,332
JBrowse link
G Map3k4 mitogen activated protein kinase kinase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 1:48,625,714...48,711,642
Ensembl chr 1:48,625,743...48,711,642
JBrowse link
G Max MYC associated factor X ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Wilms Tumor
ClinVar Annotator: match by term: Wilms tumor, somatic
ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Mllt1 MLLT1, super elongation complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:10,110,389...10,155,305
Ensembl chr 9:10,110,389...10,155,302
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19346876 RGD:6893546 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor severity ISO protein:increased expression:kidney (mouse)
mRNA:decreased expression:tumor (human)
RGD PMID:21983638, PMID:18260125 RGD:7207786, RGD:7207840 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr  X:71,324,365...71,342,225
Ensembl chr  X:71,324,365...71,342,225
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO mRNA:increased expression:kidney RGD PMID:12165855 RGD:2299168 NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
JBrowse link
G Pax2 paired box 2 ISO
IEP
mRNA:increased expression:kidney RGD PMID:12057921, PMID:7937920 RGD:2316755, RGD:2316757 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:11869017 RGD:2315007 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:kidney RGD PMID:16945639 RGD:2300206 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rest RE1-silencing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551668 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:kidney RGD PMID:16863836 RGD:2312354 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Six1 SIX homeobox 1 severity ISO DNA:missense mutation:cds:p.Q177R (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney, blastema (human)
CTD PMID:28825729, PMID:25670083, PMID:22180226 RGD:11561953, RGD:11561963 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
JBrowse link
G Slc2a1 solute carrier family 2 member 1 severity ISO RGD PMID:22483234 RGD:12879482 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Wilms Tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:16799645 RGD:2291893 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO protein:increased expression:kidney RGD PMID:17937859 RGD:2291911 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Terc telomerase RNA component disease_progression ISO RGD PMID:16172460 RGD:2291966 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:16172460 RGD:2291966 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Wilms Tumor ClinVar PMID:26822237 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:11466614 RGD:2290439 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Top2a DNA topoisomerase II alpha ISO mRNA:increased expression:kidney RGD PMID:12438255, PMID:16556665 RGD:2315132, RGD:2315131 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp73 tumor protein p73 ISO DNA:loss of heterozygosity:kidney RGD PMID:10760569 RGD:2291834 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Trim28 tripartite motif-containing 28 ISO ClinVar Annotator: match by term: Nephroblastoma ClinVar PMID:25741868 PMID:32699065 NCBI chr 1:65,544,369...65,551,043
Ensembl chr 1:65,544,373...65,551,043
JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:31,967,980...32,012,923
Ensembl chr 1:31,967,978...32,012,919
JBrowse link
G Vegfc vascular endothelial growth factor C disease_progression ISO RGD PMID:17257131 RGD:2315481 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor IEP
ISO
protein:decreased expression:kidney
ClinVar Annotator: match by term: Wilms Tumor
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8634692 PMID:8707293 PMID:8956040 PMID:9829911 PMID:10567493 PMID:10761708 PMID:11106358 PMID:11739384 PMID:11880179 PMID:12414898 PMID:19228690 PMID:19906784 PMID:20447124 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:25157968 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28503092 PMID:29790589, PMID:11880179 RGD:625549 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:kidney RGD PMID:16575872 RGD:2291870 NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
JBrowse link
G Wt1 WT1 transcription factor ISO DNA:point mutations:exon:1084C>T; 1297_1298insC, 1298_1299delCG,(human)
ClinVar Annotator: match by term: Wilms tumor 1
ClinVar Annotator: match by term: Wilms Tumor
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194070
ClinVar
CTD
OMIM
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1654525 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12471221 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15591903 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:18688870 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22703879 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25451826 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26822237 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28825729 PMID:29668062 PMID:30406062 PMID:32352694 PMID:32581362, PMID:8381965, PMID:15118671, PMID:1316081 RGD:2315545, RGD:1331525, RGD:2315544 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28825729 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
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 PMID:28492532 NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
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 PMID:28492532 NCBI chr 3:95,733,810...95,954,987 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 PMID:28492532 NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
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 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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 PMID:28492532 NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
ClinVar Annotator: match by OMIM:194080
ClinVar
OMIM
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11278460 PMID:11322369 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22465478 PMID:22703879 PMID:22876585 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25501161 PMID:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29668062 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362, PMID:12161615 RGD:1580624 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
ClinVar Annotator: match by term: GLOW SYNDROME
ClinVar
OMIM
PMID:19556464 PMID:21266384 PMID:24676357 PMID:28492532 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
Perlman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism ClinVar PMID:25741868 NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Perlman syndrome
ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:267000
OMIM
ClinVar
CTD
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:28135719 PMID:28328139 PMID:28492532 NCBI chr 9:93,767,837...94,161,106
Ensembl chr 9:93,660,680...94,160,760
JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072
ClinVar
CTD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by OMIM:194072
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15118671 RGD:1331525 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Wilms Tumor 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Familial Wilms tumor 2 ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17688236 PMID:17972171 PMID:18042939 PMID:19016756 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22762150 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24728189 PMID:24830819 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26187060 PMID:26295337 PMID:26467025 PMID:26541979 PMID:26681312 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29907814 PMID:29909963 PMID:30274973 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Familial Wilms tumor 2 ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Wilms tumor 2 ClinVar PMID:18836444 NCBI chr 1:215,701,544...215,709,313
Ensembl chr 1:215,701,544...215,709,313
JBrowse link
Wilms Tumor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou6f2 POU class 6 homeobox 2 susceptibility ISO ClinVar Annotator: match by term: Wilms tumor and radial bilateral aplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11284034 PMID:15459955 NCBI chr17:49,053,679...49,509,174 JBrowse link
Wilms Tumor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor susceptibility ISO ClinVar Annotator: match by term: Wilms tumor 6
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:26551668 PMID:28492532 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Hereditary Neoplastic Syndromes 912
        nephroblastoma 86
          Denys-Drash syndrome 8
          Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
          Perlman syndrome 2
          WAGR syndrome + 3
          Wilms Tumor 2 3
          Wilms Tumor 3 0
          Wilms Tumor 4 0
          Wilms Tumor 5 1
          Wilms Tumor 6 1
          epithelial predominant Wilms' tumor 0
          hereditary Wilms' tumor 0
          metachronous kidney Wilms' tumor 0
          mixed cell type kidney Wilms' tumor 0
          renal Wilms' tumor + 0
          stromal predominant kidney Wilms' tumor 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Urogenital Diseases 4317
        urinary system disease 2127
          kidney disease 1905
            Kidney Neoplasms 434
              kidney cancer 405
                nephroblastoma 86
                  Denys-Drash syndrome 8
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
                  Perlman syndrome 2
                  WAGR syndrome + 3
                  Wilms Tumor 2 3
                  Wilms Tumor 3 0
                  Wilms Tumor 4 0
                  Wilms Tumor 5 1
                  Wilms Tumor 6 1
                  epithelial predominant Wilms' tumor 0
                  hereditary Wilms' tumor 0
                  metachronous kidney Wilms' tumor 0
                  mixed cell type kidney Wilms' tumor 0
                  renal Wilms' tumor + 0
                  stromal predominant kidney Wilms' tumor 0
paths to the root