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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:papillary renal cell carcinoma
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Accession:DOID:4465 term browser browse the term
Definition:A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. (DO)
Synonyms:exact_synonym: RCCP1;   chromophil carcinoma of kidney;   papillary kidney carcinoma;   papillary renal cell carcinoma 1;   sporadic papillary renal cell carcinoma
 primary_id: OMIM:605074
 xref: EFO:0000640;   GARD:9572;   NCI:C27890;   NCI:C6975
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papillary renal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:kidney (human) RGD PMID:31964418 RGD:153344516 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO mRNA:increased expression:kidney (human) RGD PMID:31964418 RGD:153344516 NCBI chr16:70,226,824...70,237,000 JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr21:109,495,525...109,690,261 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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1
ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
JBrowse link
G LOC103231895 serine/threonine-protein kinase A-Raf ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:44,738,406...44,748,996
Ensembl chr  X:44,740,181...44,748,550
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 chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 ClinVar
OMIM
PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 More... NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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 chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO OMIM NCBI chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339
JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:26619011 NCBI chr21:119,652,692...119,704,833
Ensembl chr21:119,652,127...119,703,458
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:1565143 PMID:7718482 PMID:7887414 PMID:8023157 PMID:8118819 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
JBrowse link
G XIAP X-linked inhibitor of apoptosis exacerbates ISO mRNA:increased expression:kidney (human) RGD PMID:31964418 RGD:153344516
Sporadic Papillary Renal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr21:109,495,525...109,690,261 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 chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
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 chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
JBrowse link
G LOC103231895 serine/threonine-protein kinase A-Raf ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:44,738,406...44,748,996
Ensembl chr  X:44,740,181...44,748,550
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 chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633
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 chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor severity ISO protein:increased expression:kidney (human)
mRNA:increased expression:renal cortex (human)
RGD PMID:17409424 PMID:19384955 RGD:7240562 RGD:7240563 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:26619011 NCBI chr21:119,652,692...119,704,833
Ensembl chr21:119,652,127...119,703,458
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar PMID:1565143 PMID:7718482 PMID:7887414 PMID:8023157 PMID:8118819 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    disease of cellular proliferation 7171
      Neoplasms by Histologic Type 5029
        Glandular and Epithelial Neoplasms 3560
          carcinoma 3068
            papillary carcinoma 20
              papillary renal cell carcinoma 18
                Sporadic Papillary Renal Cell Carcinoma 12
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      Urogenital Diseases 4663
        urinary system disease 2365
          kidney disease 2138
            Kidney Neoplasms 476
              kidney cancer 450
                renal carcinoma 345
                  renal cell carcinoma 339
                    papillary renal cell carcinoma 18
                      Sporadic Papillary Renal Cell Carcinoma 12
paths to the root