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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:hereditary renal cell carcinoma
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Accession:DOID:4455 term browser browse the term
Synonyms:exact_synonym: familial renal carcinoma;   familial renal cell carcinoma
 primary_id: MESH:C536851
 xref: GARD:9571
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hereditary renal cell carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar PMID:28492532 NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28546994 PMID:30680959 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar PMID:28492532 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,970,995...12,005,355 		JBrowse link
nonpapillary renal cell carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:148,036,824...148,047,245 		JBrowse link
G Flcn folliculin ISS
ISO 		OMIM:144700
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 		MouseDO
ClinVar		 PMID:12204536 PMID:12471204 PMID:15852235 PMID:17496196 PMID:18234728 More... NCBI chr10:45,088,164...45,107,581
Ensembl chr10:45,088,167...45,107,309 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:8945470 PMID:9075818 PMID:9112026 PMID:9133564 PMID:9287053 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:9398836 PMID:12148114 PMID:14583183 PMID:15068978 PMID:15660195 More... NCBI chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:7728151 PMID:8956040 PMID:9058738 PMID:9399847 PMID:9536098 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      cancer 5732
        cell type cancer 3786
          carcinoma 3274
            adenocarcinoma 1700
              renal cell carcinoma 355
                hereditary renal cell carcinoma 11
                  familial renal papillary carcinoma 0
                  hereditary conventional renal cell carcinoma 0
                  nonpapillary renal cell carcinoma 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        Urogenital Neoplasms 2350
          Urologic Neoplasms 729
            urinary system cancer 678
              kidney cancer 478
                renal carcinoma 361
                  renal cell carcinoma 355
                    hereditary renal cell carcinoma 11
                      familial renal papillary carcinoma 0
                      hereditary conventional renal cell carcinoma 0
                      nonpapillary renal cell carcinoma 6
paths to the root