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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:female breast cancer
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Accession:DOID:0050671 term browser browse the term
Definition:A breast cancer that develops from breast tissue in females. (DO)


show annotations for term's descendants           Sort by:
female breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Chek2 checkpoint kinase 2 susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Ctcf CCCTC-binding factor disease_progression ISO DNA:missense mutation, silent mutation:Q216H, S1455S, breast (human) RGD PMID:32435142 RGD:151356743 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Fanci FA complementation group I susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase onset ISO RGD PMID:15867340 RGD:153323296 NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Palb2 partner and localizer of BRCA2 susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Polh DNA polymerase eta susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 susceptibility ISO DNA:missense mutation:cds: (human) RGD PMID:30303537 RGD:152995259 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
female breast carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 treatment ISO human cell line in a mouse model RGD PMID:31255687 RGD:155663557 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of cellular proliferation 7670
      Neoplasms by Site 7125
        Breast Neoplasms 1376
          breast cancer 721
            female breast cancer 10
              female breast axillary tail cancer 0
              female breast carcinoma 1
              female breast central part cancer 0
              female breast lower-inner quadrant cancer 0
              female breast lower-outer quadrant cancer 0
              female breast nipple and areola cancer 0
              female breast upper-inner quadrant cancer 0
              female breast upper-outer quadrant cancer 0
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              breast disease 1386
                Breast Neoplasms 1376
                  breast cancer 721
                    female breast cancer 10
                      female breast axillary tail cancer 0
                      female breast carcinoma 1
                      female breast central part cancer 0
                      female breast lower-inner quadrant cancer 0
                      female breast lower-outer quadrant cancer 0
                      female breast nipple and areola cancer 0
                      female breast upper-inner quadrant cancer 0
                      female breast upper-outer quadrant cancer 0
paths to the root