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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.

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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 chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870 		JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar NCBI chr25:3,350,798...3,405,040 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 4:163,726...190,145 JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Hereditary renal cell carcinoma ClinVar PMID:28492532 NCBI chr 5:3,339,954...3,405,218
Ensembl chr 5:3,340,040...3,405,166 		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 chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:12204536 PMID:12471204 PMID:15852235 PMID:16199547 PMID:17496196 More... NCBI chr16:16,245,840...16,271,465
Ensembl chr16:16,245,715...16,267,698 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:8945470 PMID:9112026 PMID:9133564 PMID:9287053 PMID:9604876 More... NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751 		JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:15930087 More... NCBI chr16:30,033,486...30,097,106
Ensembl chr16:30,036,766...30,097,088 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar NCBI chr22:45,757,414...45,763,690 JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    disease of cellular proliferation 7171
      cancer 5223
        cell type cancer 3618
          carcinoma 3068
            adenocarcinoma 1559
              renal cell carcinoma 339
                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 15285
    disease of cellular proliferation 7171
      Neoplasms by Site 6649
        Urogenital Neoplasms 2084
          Urologic Neoplasms 678
            urinary system cancer 627
              kidney cancer 450
                renal carcinoma 345
                  renal cell carcinoma 339
                    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