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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:Renal Cell Carcinoma 1
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Accession:DOID:9006972 term browser browse the term
Synonyms:primary_id: MESH:C538557;   RDO:0004499


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Renal Cell Carcinoma 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:28492532 NCBI chr 7:109,330,983...109,397,864
Ensembl chr 7:122,025,611...122,091,923 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:10571946 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:10571946 NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:28492532 NCBI chr 7:108,835,083...108,889,112
Ensembl chr 7:121,551,401...121,584,566 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:28492532 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26822237 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G ELOC elongin C ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26619011 NCBI chr 8:70,479,805...70,506,142
Ensembl chr 8:72,121,035...72,151,085 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 More... NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:18325052 PMID:21926548 PMID:24506336 PMID:24763289 PMID:25637381 More... NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More... NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26619011 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 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 PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:25741868 NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26619011 NCBI chr 7:143,054,747...143,108,011 JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26619011 NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G ST7 suppression of tumorigenicity 7 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:28492532 NCBI chr 7:108,922,652...109,197,805
Ensembl chr 7:121,680,200...121,896,175 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:7563486 PMID:7660122 PMID:7728151 PMID:7784063 PMID:7977367 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G WNT2 Wnt family member 2 ISO ClinVar Annotator: match by term: Renal cell carcinoma 1 ClinVar PMID:28492532 NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      cancer 5233
        cell type cancer 3590
          carcinoma 3058
            adenocarcinoma 1587
              renal cell carcinoma 347
                Renal Cell Carcinoma 1 23
Path 2
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Site 6708
        Urogenital Neoplasms 2129
          Urologic Neoplasms 690
            urinary system cancer 638
              kidney cancer 457
                renal carcinoma 353
                  renal cell carcinoma 347
                    Renal Cell Carcinoma 1 23
paths to the root