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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:Sporadic Papillary Renal Cell Carcinoma
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Accession:DOID:9008013 term browser browse the term
Synonyms:exact_synonym: Papillary renal carcinoma, malignant;   Papillary renal cell carcinoma, bilateral;   Papillary renal cell carcinoma, familial;   Papillary renal cell carcinoma, multiple
 primary_id: MESH:C538614
 alt_id: RDO:0004542



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Sporadic Papillary Renal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:39,997,026...40,007,783
Ensembl chr  X:47,893,153...47,904,643
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:26619011 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 More... NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor severity ISO mRNA:increased expression:renal cortex (human)
protein:increased expression:kidney (human)
RGD PMID:17409424 PMID:19384955 RGD:7240562 RGD:7240563 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:26619011 NCBI chr 7:143,054,747...143,108,011 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:1565143 PMID:7887414 PMID:8023157 PMID:8118819 PMID:8242631 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Histologic Type 5050
        Glandular and Epithelial Neoplasms 3549
          carcinoma 3058
            papillary carcinoma 21
              papillary renal cell carcinoma 19
                Sporadic Papillary Renal Cell Carcinoma 13
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Urogenital Diseases 4725
        urinary system disease 2401
          kidney disease 2172
            Kidney Neoplasms 484
              kidney cancer 457
                renal carcinoma 353
                  renal cell carcinoma 347
                    papillary renal cell carcinoma 19
                      Sporadic Papillary Renal Cell Carcinoma 13
paths to the root