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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:childhood kidney cancer
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Accession:DOID:3675 term browser browse the term
Synonyms:exact_synonym: pediatric renal tumor
 primary_id: RDO:9005107
 xref: ICD-O:M8000/3;   NCI:C6563
For additional species annotation, visit the Alliance of Genome Resources.


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atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor | ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322		 CTD
ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
rhabdoid cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor ISO protein:increased expression:kidney (human) RGD PMID:20212451 RGD:7207430 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pgbd5 piggyBac transposable element derived 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28504702 NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA:nonsense mutation, deletions, insertions:multiple (human)
protein:decreased expression:brain, kidney, soft tissue:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370 RGD:1599055, RGD:155804291 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Rhabdoid Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8269278 PMID:9536098 PMID:11085541 PMID:15756273 PMID:16199547 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    disease of cellular proliferation 7793
      cancer 5636
        organ system cancer 5395
          urinary system cancer 690
            kidney cancer 492
              childhood kidney cancer 14
                congenital mesoblastic nephroma + 0
                rhabdoid cancer + 14
Path 2
Term Annotations click to browse term
  disease 19087
    disease of cellular proliferation 7793
      Neoplasms by Site 7249
        Urogenital Neoplasms 2207
          Urologic Neoplasms 744
            urinary system cancer 690
              kidney cancer 492
                childhood kidney cancer 14
                  congenital mesoblastic nephroma + 0
                  rhabdoid cancer + 14
paths to the root