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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:Breast Cancer, Familial
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Accession:DOID:9008952 term browser browse the term
Synonyms:exact_synonym: FAMILIAL CANCER OF BREAST;   familial cancer of breast
 primary_id: MESH:C562840;   RDO:0012387
For additional species annotation, visit the Alliance of Genome Resources.


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Breast Cancer, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:28492532 NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ankrd30a ankyrin repeat domain 30A ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 3:97,641,258...97,826,965 JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:20301519 PMID:28492532 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:28492532 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:2007750 PMID:2635054 PMID:9425226 PMID:9536098 PMID:11807980 More... NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:1245799 PMID:1514655 PMID:1673748 PMID:2010458 PMID:2144777 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:1 PMID:2928257 PMID:3108138 PMID:8075631 PMID:8524414 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:12434154 PMID:22187299 PMID:23293331 PMID:25741868 PMID:25959515 More... NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:2317870 PMID:8075649 PMID:9268661 PMID:11747475 PMID:11968084 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:3313277 PMID:9536098 PMID:9836640 PMID:10617473 PMID:11053450 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Dctn5 dynactin subunit 5 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:20852946 PMID:20927582 NCBI chr 1:176,689,176...176,705,907
Ensembl chr 1:176,689,156...176,705,906
JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:10945602 PMID:16280033 PMID:17545528 PMID:17553133 PMID:23236557 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,951,702...79,961,830
Ensembl chr14:79,950,555...79,961,438
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
JBrowse link
G LOC102551828 uncharacterized LOC102551828 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More...
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16287072 PMID:18091433 PMID:19953527 PMID:20418187 PMID:22252118 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
JBrowse link
G Nobox NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:241536 PMID:9536098 PMID:16199547 PMID:16793542 PMID:17200668 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17376864 PMID:21824802 PMID:22729224 PMID:24033266 PMID:25157968 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:24894818 PMID:25741868 PMID:26689913 PMID:26787654 PMID:28492532 More... NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:10807537 PMID:28492532 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9090527 PMID:9506724 PMID:12000816 PMID:12205548 PMID:12566528 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial
ClinVar PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9019400 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:80,157,854...80,313,456 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    disease of cellular proliferation 7037
      Neoplasms by Site 6679
        Breast Neoplasms 1292
          breast cancer 634
            Breast Cancer, Familial 61
              Breast Cancer, Familial Male 0
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          skin disease 2954
            breast disease 1300
              Breast Neoplasms 1292
                breast cancer 634
                  Breast Cancer, Familial 61
                    Breast Cancer, Familial Male 0
paths to the root