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Pathways

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
 xref: MESH:C562840



show annotations for term's descendants           Sort by:
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 9:80,272,121...80,445,340
Ensembl chr 9:80,272,127...80,445,340
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr10:1,022,041...1,162,431
Ensembl chr10:1,038,947...1,162,404
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28655553 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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 chr14:84,093,559...84,144,892
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:11727201 PMID:12673792 PMID:20301519 PMID:20301601 PMID:28492532 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022
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 chr14:83,727,049...83,771,316
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 9:80,614,311...80,634,360
Ensembl chr 9:80,614,283...80,635,756
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:100011 PMID:133608 PMID:581456 PMID:623656 PMID:988733 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:1 PMID:251316 PMID:1584056 PMID:2936742 PMID:9425226 More... NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:80,069,960...80,176,873
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 1:143,819,072...143,905,300
Ensembl chr 1:143,819,090...143,905,210
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:122156 PMID:591403 PMID:1157798 PMID:1245799 PMID:1514655 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:1 PMID:7 PMID:1234 PMID:1772447 PMID:1843150 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194
JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:11865300 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:71,401,151...71,575,206
JBrowse link
G C14h22orf31 similar to human chromosome 22 open reading frame 31 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More...
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:100011 PMID:581456 PMID:988733 PMID:1065243 PMID:1098053 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:62,692,568...62,720,946
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 chr14:83,822,327...83,832,735
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:67,758,033...67,806,699
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 chr14:84,614,283...84,624,087
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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:2317870 PMID:2449335 PMID:3028782 PMID:8075649 PMID:9268661 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:914197 PMID:2206311 PMID:2598075 PMID:2681983 PMID:2797856 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667
JBrowse link
G Dctn5 dynactin subunit 5 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:20852946 PMID:20927582 More... NCBI chr 1:176,689,176...176,705,907
Ensembl chr 1:186,119,913...186,137,146
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 chr14:84,214,530...84,257,579
JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:11857745 PMID:14729822 PMID:15475941 PMID:15849733 PMID:16086322 More... NCBI chr 6:12,633,715...12,649,678
Ensembl chr 6:12,631,611...12,649,702
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481
JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:10945602 PMID:15133719 PMID:16280033 PMID:17545528 PMID:17553133 More... NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354
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 chr14:84,179,618...84,208,095
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:16,747,338...17,872,621
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 chr14:84,169,398...84,175,514
Ensembl chr14:84,169,398...84,175,514
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 chr10:25,635,915...25,665,390
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 chr12:51,481,326...51,501,507
JBrowse link
G Ints2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16116423 PMID:17033622 PMID:21964575 PMID:28492532 NCBI chr10:71,031,647...71,079,138
Ensembl chr10:71,401,151...71,575,206
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:136,644,307...136,689,760
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:9362444 PMID:9536098 More... NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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 chr14:84,297,700...84,361,614
JBrowse link
G Lhfpl3 LHFPL tetraspan subfamily member 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868
G Lrrc41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 5:129,554,547...129,575,450
Ensembl chr 5:134,791,256...134,812,177
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9322509 PMID:9536098 PMID:10200055 PMID:11066084 PMID:11306449 More... NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:120,065,900...120,112,011
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:110,612,535...110,648,999
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9536098 PMID:11074494 PMID:11782355 PMID:11857745 PMID:14729822 More... NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9536098 PMID:11153917 PMID:15805151 PMID:16199547 PMID:17576681 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844
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
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266
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 chr14:83,564,065...83,684,573
Ensembl chr14:83,564,065...83,684,473
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 5:135,517,695...135,522,776
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:47,498,852...47,641,612
Ensembl chr10:47,498,852...47,640,350
JBrowse link
G Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16793542 PMID:17200668 PMID:17200671 PMID:19609323 PMID:24136930 More... NCBI chr 1:176,644,696...176,658,131
Ensembl chr 1:186,057,113...186,089,373
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 chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:83,850,894...83,934,263
Ensembl chr14:83,850,894...83,934,151
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 chr14:83,957,702...83,981,576
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 4:73,127,925...73,134,630
JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:12446846 PMID:29634348 PMID:32030066 PMID:33747912 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:241536 PMID:2598075 PMID:2980694 PMID:3040479 PMID:3254656 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
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 5:134,936,790...135,009,303
Ensembl chr 5:134,934,857...135,007,762
JBrowse link
G Plk1 polo-like kinase 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr 1:186,147,658...186,157,637
Ensembl chr 1:186,147,658...186,157,637
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:26467025 PMID:26689913 PMID:27449771 PMID:27616075 More... NCBI chr12:15,790,478...15,814,790
Ensembl chr12:15,790,478...15,815,248
JBrowse link
G Potefam1l1 POTE ankyrin domain family member 1 like 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 3:97,641,258...97,826,965
Ensembl chr 3:118,098,764...118,281,536
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28492532 More... NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,670,020...70,706,256
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr 1:143,659,312...143,681,019
Ensembl chr 1:143,659,481...143,681,012
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:135,808,895...135,828,986
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Breast cancer, familial
ClinVar Annotator: match by term: Familial cancer of breast
ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast
ClinVar PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:14684699 PMID:15855896 PMID:16199547 PMID:16385572 PMID:19383352 More... NCBI chr10:38,310,147...38,362,100
Ensembl chr10:38,310,147...38,362,100
JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:10807537 PMID:21242494 PMID:22305526 PMID:25741868 PMID:27830107 More... NCBI chr 3:126,554,210...126,578,888
Ensembl chr 3:126,554,190...126,579,469
JBrowse link
G Rad51b RAD51 paralog B ISO ClinVar Annotator: match by term: Breast cancer, familial ClinVar PMID:16778173 PMID:23001122 PMID:24139550 PMID:26845104 NCBI chr 6:98,096,525...98,640,988
Ensembl chr 6:103,829,554...104,374,509
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:20400964 PMID:21616938 PMID:21750962 PMID:21990120 PMID:22167183 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,702,299...72,729,143
JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16199547 PMID:21822267 PMID:25741868 PMID:28492532 PMID:32107557 More... NCBI chr10:67,805,720...67,824,452
Ensembl chr10:68,238,273...68,321,902
JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:134,811,532...134,841,425
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 chr14:84,168,227...84,170,495
JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr 5:13,161,648...13,225,560
Ensembl chr 5:17,948,522...18,012,434
JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:28492532 NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:177,035,128...177,063,838
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:12566528 PMID:15531714 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556
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 chr14:84,209,432...84,214,332
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:23994477 PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186
JBrowse link
G Thoc5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:83,982,302...84,016,193
Ensembl chr14:83,982,397...84,034,995
JBrowse link
G Tmem132e transmembrane protein 132E ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr10:67,330,863...67,386,790
Ensembl chr10:67,828,475...67,884,398
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:130,270,484...130,274,050
Ensembl chr 5:135,507,116...135,510,682
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:9019400 NCBI chr 1:106,549,035...106,578,859
Ensembl chr 1:106,535,021...106,578,775
JBrowse link
G Ubfd1 ubiquitin family domain containing 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:17200668 PMID:17200671 PMID:19609323 PMID:28492532 NCBI chr 1:176,626,003...176,640,993
Ensembl chr 1:186,057,123...186,066,103
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 chr14:83,789,658...83,791,914
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 chr14:84,604,107...84,609,706
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:136,684,558...136,694,822
JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:74,468,643...74,606,020
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 chr14:83,792,262...83,823,095
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
Ensembl chr14:84,374,412...84,527,448
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        organ system cancer 5479
          breast cancer 914
            Breast Cancer, Familial 90
              Breast Cancer, Familial Male 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              breast disease 1564
                Breast Neoplasms 1551
                  breast cancer 914
                    Breast Cancer, Familial 90
                      Breast Cancer, Familial Male 0
paths to the root