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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Breast carcinoma
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Accession:HP:0003002 term browser browse the term
Definition:The presence of a carcinoma of the breast.
Synonyms:exact_synonym: Breast cancer
 narrow_synonym: BRCAX breast cancer;   HER2 negative breast carcinoma;   estrogen-receptor negative breast cancer;   estrogen-receptor positive breast cancer;   progesterone-receptor negative breast cancer;   progesterone-receptor positive breast cancer
 xref: EFO:0000305;   EFO:0009443;   EFO:0009780;   EFO:0009781;   EFO:0009782;   EFO:1000649;   EFO:1000650;   MESH:D001943;   NCI:C2916;   SNOMEDCT_US:254838004;   UMLS:C0678222


show annotations for term's descendants           Sort by:
Breast carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ABCA1 ATP binding cassette subfamily A member 1 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:28492532 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABRAXAS1 abraxas 1, BRCA1 A complex subunit IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:83,459,517...83,485,100
Ensembl chr 4:83,459,517...83,523,348 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:114480 OMIM:167000 OMIM:615109 ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:7689011 PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:8940262 PMID:9288102 PMID:9585599 PMID:9724771 PMID:9731522 More... OMIM:135290 ORPHA:247806 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:1160401 PMID:1739330 PMID:1739584 PMID:2166257 PMID:2557216 More... OMIM:114480 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATR ATR serine/threonine kinase IAGP ClinVar Annotator: match by term: Cancer breast HPO
ClinVar		 PMID:25741868 PMID:28492532 OMIM:614564 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar
HPO		 PMID:21541676 PMID:25236910 PMID:25741868 PMID:26467025 PMID:28492532 More... OMIM:608615 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:1584056 PMID:9425226 PMID:9536098 PMID:11807980 PMID:14550946 More... OMIM:114480 ORPHA:145 NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:22703879 PMID:23399955 PMID:24033266 PMID:24448499 PMID:24728327 More... NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:202008 PMID:1157798 PMID:1673748 PMID:2010458 PMID:2144777 More... OMIM:114480 OMIM:604370 OMIM:617883 ORPHA:1333 ORPHA:145 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: breast cancer		 ClinVar
HPO		 PMID:1 PMID:234495 PMID:668580 PMID:1446381 PMID:2200631 More... OMIM:114480 OMIM:612555 ORPHA:1333 ORPHA:145 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... OMIM:114480 ORPHA:145 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar PMID:1160401 PMID:2166257 PMID:2557216 PMID:4012663 PMID:6504056 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CASP8 caspase 8 IAGP HPO OMIM:114480 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:8636323 PMID:10023897 PMID:10217111 PMID:10912749 PMID:11161843 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:1722187 PMID:2403327 PMID:2449335 PMID:8075649 PMID:11196175 More... OMIM:114480 OMIM:167000 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ClinVar Annotator: match by term: Cancer breast ClinVar NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,128,103 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:2936834 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 More... OMIM:609265 ORPHA:145 ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO OMIM:167000 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 PMID:32714280 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO OMIM:167000 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO OMIM:114480 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:28492532 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO ORPHA:144 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:7492758 PMID:7689011 PMID:8081385 PMID:8128956 PMID:08348157 More... NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101400 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Breast cancer ClinVar NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNG3 G protein subunit gamma 3 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr11:62,706,446...62,709,201
Ensembl chr11:62,707,676...62,709,201 		JBrowse link
G HMMR hyaluronan mediated motility receptor IAGP HPO OMIM:114480 NCBI chr 5:163,460,632...163,491,941
Ensembl chr 5:163,460,203...163,491,941 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL18 interleukin 18 severity IAGP DNA:SNP:promoter:-137G>C (rs187238) RGD PMID:19152241 RGD:8655899 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G KDM6A lysine demethylase 6A IAGP DNA:mutations:multiple: RGD PMID:32923150 RGD:150429734 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:18334619 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO OMIM:615107 ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:114480 ORPHA:1333 ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr10:43,072,914...43,077,291 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC111589215 BRCA1 promoter region IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:8644752 PMID:9808526 PMID:25741868 PMID:28492532 NCBI chr17:43,124,495...43,127,556 JBrowse link
G LOC126860438 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:89,947,754...89,948,953 JBrowse link
G LOC126862571 BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar PMID:7894492 PMID:7894493 PMID:8531967 PMID:8571953 PMID:8776600 More... NCBI chr17:43,091,119...43,092,318 JBrowse link
G LOC129390903 MPRA-validated peak2919 silencer IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:9536098 PMID:17576681 PMID:20400964 PMID:21990120 PMID:24800917 More... NCBI chr17:58,703,225...58,703,425 JBrowse link
G LOC129933707 ATAC-STARR-seq lymphoblastoid silent region 11468 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:25741868 PMID:28492532 PMID:35449176 NCBI chr 2:47,783,478...47,783,637 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LOC130009266 ATAC-STARR-seq lymphoblastoid silent region 5123 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:23263490 PMID:25741868 PMID:27153395 PMID:28492532 PMID:30503519 NCBI chr12:132,686,793...132,688,102 JBrowse link
G LOC130061310 ATAC-STARR-seq lymphoblastoid active region 12491 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:25741868 PMID:26740214 PMID:28492532 NCBI chr17:58,692,790...58,692,959 JBrowse link
G LOC130062899 ATAC-STARR-seq lymphoblastoid active region 13597 IAGP ClinVar Annotator: match by term: Cancer breast ClinVar PMID:15800014 PMID:20393878 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr19:1,223,046...1,223,255 JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar PMID:9302268 PMID:9665397 PMID:10631149 PMID:12876664 PMID:15994880 More... NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:21774103 PMID:21970370 PMID:25741868 PMID:28259294 PMID:28492532 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:8809606 PMID:9506527 PMID:9718327 PMID:10446963 PMID:10713887 More... OMIM:158320 ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLH3 mutL homolog 3 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:144 NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Breast carcinoma HPO
ClinVar		 PMID:23080121 PMID:23912341 PMID:25741868 PMID:28492532 PMID:32658311 ORPHA:145 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:6096739 PMID:8062247 PMID:8261515 PMID:8566964 PMID:8613431 More... OMIM:158320 ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:2968408 PMID:8838326 PMID:10508506 PMID:10537275 PMID:10699937 More... ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15635083 More... NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... ORPHA:145 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 IAGP HPO OMIM:114480 NCBI chr 6:2,999,894...3,019,755
Ensembl chr 6:2,987,987...3,019,755 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO OMIM:616415 ORPHA:454840 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like IAGP HPO OMIM:167000 NCBI chr11:132,414,981...133,532,501
Ensembl chr11:132,414,977...133,532,501 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... OMIM:620442 ORPHA:1333 ORPHA:145 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G PHB1 prohibitin 1 IAGP HPO OMIM:114480 NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Breast cancer ClinVar
HPO		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... OMIM:114480 OMIM:167000 OMIM:615108 ORPHA:144 ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:9536098 PMID:10479499 PMID:10480359 PMID:15077197 PMID:16199547 More... ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar
HPO		 PMID:23376243 PMID:24033266 PMID:24123366 PMID:25637381 PMID:25741868 More... ORPHA:447877 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast		 ClinVar
HPO		 PMID:21701589 PMID:23263490 PMID:24033266 PMID:25741868 PMID:26251183 More... ORPHA:447877 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLH DNA polymerase eta IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 PMID:30414346 PMID:33558524 NCBI chr 6:43,576,185...43,620,523
Ensembl chr 6:43,576,185...43,620,523 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 PMID:30414346 PMID:33558524 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D IAGP HPO OMIM:114480 NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280 		JBrowse link
G PRC1 protein regulator of cytokinesis 1 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr15:90,966,040...90,994,535
Ensembl chr15:90,966,040...90,995,629 		JBrowse link
G PRC1-AS1 PRC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr15:90,966,369...90,988,624
Ensembl chr15:90,966,340...90,988,625 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:28492532 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO OMIM:167000 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:9467011 PMID:9619835 PMID:9788441 PMID:11918710 PMID:14569134 More... OMIM:158350 ORPHA:145 ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast		 ClinVar
HPO		 PMID:19409520 PMID:25741868 PMID:26023681 PMID:28123851 PMID:28492532 More... ORPHA:145 NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO OMIM:114480 ORPHA:145 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:18203022 PMID:20400963 PMID:20400964 More... OMIM:613399 ORPHA:145 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAD51D RAD51 paralog D IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar
HPO		 PMID:10749867 PMID:14704354 PMID:15170666 PMID:16199547 PMID:16717288 More... ORPHA:145 NCBI chr17:35,092,221...35,119,860
Ensembl chr17:35,092,221...35,121,522 		JBrowse link
G RAD51L3-RFFL RAD51L3-RFFL readthrough IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Cancer breast
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar PMID:10749867 PMID:14704354 PMID:15170666 PMID:16199547 PMID:16717288 More... NCBI chr17:35,009,112...35,121,522 JBrowse link
G RAD54L RAD54 like IAGP HPO OMIM:114480 NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480 		JBrowse link
G RB1CC1 RB1 inducible coiled-coil 1 IAGP HPO OMIM:114480 NCBI chr 8:52,622,458...52,714,435
Ensembl chr 8:52,622,458...52,745,843 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar PMID:7647787 PMID:7881414 PMID:9727738 PMID:9760196 PMID:10646792 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RNF43 ring finger protein 43 IAGP HPO ORPHA:157798 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Breast cancer ClinVar
HPO		 PMID:14985401 PMID:16322339 PMID:16912137 PMID:17102082 PMID:17102083 More... ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Breast cancer ClinVar
HPO		 PMID:23175444 PMID:24033266 PMID:24466223 PMID:25741868 PMID:26467025 More... ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO OMIM:616858 ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP HPO OMIM:114480 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP HPO ORPHA:457212 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar
HPO		 PMID:25741868 PMID:26467025 PMID:28492532 ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Breast cancer		 ClinVar
HPO		 PMID:10429655 PMID:12533684 PMID:15800014 PMID:16287113 PMID:17026623 More... OMIM:175200 ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Breast carcinoma		 ClinVar PMID:15814878 PMID:17460043 PMID:18753630 PMID:18931339 PMID:19147845 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:18669893 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Breast cancer
ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Cancer breast		 ClinVar
HPO		 PMID:253702 PMID:1394133 PMID:1537617 PMID:1562462 PMID:1565143 More... OMIM:114480 OMIM:151623 ORPHA:1333 ORPHA:145 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP73 tumor protein p73 IAGP DNA:deletion:intron:IVS1-489_-417del RGD PMID:14732927 RGD:151347588 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10353610 More... NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25557138 PMID:25741868 More... NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Breast cancer ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G VDR vitamin D receptor severity IAGP DNA:SNP:intron: (rs1544410) (human) RGD PMID:9613456 RGD:8158057 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Breast cancer ClinVar NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Breast cancer ClinVar
HPO		 PMID:10069711 PMID:10220139 PMID:16786514 PMID:24728327 PMID:25741868 More... ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25330149 PMID:25452441 PMID:26681312 PMID:26845104 PMID:28492532 More... NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 IAGP HPO OMIM:114480 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
Multifocal breast carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Multifocal breast carcinoma ClinVar PMID:28492532 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Multifocal breast carcinoma ClinVar PMID:28492532 NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the breast 612
        Abnormal breast morphology 606
          Neoplasm of the breast 234
            Breast carcinoma 184
              Multifocal breast carcinoma 2
paths to the root