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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 carcinoma
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Accession:DOID:3459 term browser browse the term
Definition:A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)
Synonyms:exact_synonym: Mammary carcinoma;   breast carcinomas;   carcinoma of breast;   human mammary carcinoma;   human mammary carcinomas
 narrow_synonym: MULTIFOCAL BREAST CARCINOMA
 primary_id: RDO:9001794
 xref: NCI:C124249;   NCI:C4872
For additional species annotation, visit the Alliance of Genome Resources.


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 ABCE1 ATP binding cassette subfamily E member 1 ISO mRNA:increased expression:breast (human) RGD PMID:23556449 RGD:11041882 NCBI chr 4:137,445,210...137,476,309
Ensembl chr 4:149,105,912...149,137,028
JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO protein:decreased expression:breast RGD PMID:11948115 RGD:2315568 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
JBrowse link
G AFDN afadin, adherens junction formation factor disease_progression ISO RGD PMID:16819513 RGD:13838725 NCBI chr 6:165,778,026...165,923,685
Ensembl chr 6:170,775,904...170,882,784
JBrowse link
G AMACR alpha-methylacyl-CoA racemase severity ISO RGD PMID:15941950 RGD:2315635 NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:8940262 PMID:9288102 PMID:9585599 PMID:9724771 PMID:9731522 More... NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 disease_progression ISO protein:altered localization:cytoplasm RGD PMID:11748448 RGD:2315667 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO protein:decreased expression:lymph node
ClinVar Annotator: match by term: Breast carcinoma
ClinVar Annotator: match by term: Multifocal breast carcinoma
RGD
ClinVar
PMID:8755918 PMID:9463314 PMID:9887333 PMID:10330348 PMID:10748873 More... RGD:1643351 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATP7B ATPase copper transporting beta severity ISO mRNA,protein:increased expression:breast RGD PMID:11802810 RGD:2292670 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:20077502 PMID:21344236 PMID:25741868 PMID:28492532 PMID:28724667 NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:16886624 RGD:1643480 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BCL2L10 BCL2 like 10 treatment ISO RGD PMID:22207111 RGD:14392810 NCBI chr15:31,049,509...31,057,273
Ensembl chr15:49,376,576...49,380,109
JBrowse link
G BIN1 bridging integrator 1 ISO RGD PMID:10652430 RGD:1580043 NCBI chr2B:33,168,767...33,228,075
Ensembl chr2B:127,716,550...127,775,378
JBrowse link
G BRCA1 BRCA1 DNA repair associated disease_progression ISO protein:altered localization:cytoplasm
ClinVar Annotator: match by term: Breast carcinoma
RGD
ClinVar
PMID:2144777 PMID:7795652 PMID:7837387 PMID:7894493 PMID:7939630 More... RGD:2293150 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:8589730 PMID:8673089 PMID:8706004 PMID:9042907 PMID:9150155 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO mRNA:increased expression:breast (human)
ClinVar Annotator: match by term: Breast carcinoma
RGD
ClinVar
PMID:12872252 PMID:16116423 PMID:17033622 PMID:18345034 PMID:18628483 More... RGD:11251773 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G C11H11orf65 chromosome 11 C11orf65 homolog ISO ClinVar Annotator: match by term: Multifocal breast carcinoma
ClinVar Annotator: match by term: Breast carcinoma
ClinVar NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
JBrowse link
G CA9 carbonic anhydrase 9 disease_progression ISO RGD PMID:17245699 RGD:2293195 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
JBrowse link
G CADM1 cell adhesion molecule 1 severity ISO DNA:hypermethylation RGD PMID:17260099 RGD:2289088 NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
JBrowse link
G CASP3 caspase 3 disease_progression ISO protein:increased expression:breast RGD PMID:12107344 RGD:2293309 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CAV1 caveolin 1 ISO DNA:missense mutation: :p.P132L (human)
protein:increased expression:breast
RGD PMID:11289096 PMID:17915016 RGD:2289101 RGD:8661775 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CBX7 chromobox 7 severity ISO protein:decreased expression:breast (human) RGD PMID:21779448 RGD:11352698 NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
JBrowse link
G CD46 CD46 molecule disease_progression ISO protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05)
protein:increased expression:very strong diffuse staining on carcinomas
RGD PMID:7532466 PMID:15378282 RGD:2293547 RGD:2293551 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
JBrowse link
G CD59 CD59 molecule (CD59 blood group) disease_progression ISO RGD PMID:12898600 RGD:2326192 NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:breast RGD PMID:15958618 RGD:2289398 NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
JBrowse link
G CD9 CD9 molecule disease_progression ISO RGD PMID:16132579 RGD:2326200 NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385
JBrowse link
G CDC25A cell division cycle 25A disease_progression ISO RGD PMID:19555767 RGD:2734052 NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
JBrowse link
G CDC25B cell division cycle 25B disease_progression ISO RGD PMID:15550849 RGD:4105449 NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 PMID:28492532 PMID:29805042 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CDH13 cadherin 13 ISO DNA:hypermethylation:promoter RGD PMID:11389090 RGD:2293545 NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO DNA:amplification RGD PMID:9916925 RGD:2293583 NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:9536098 PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 More... NCBI chr22:9,757,038...9,811,171 JBrowse link
G CRP C-reactive protein severity ISO RGD PMID:14648971 RGD:9585643 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 susceptibility ISO DNA:polymorphism (human) RGD PMID:15978329 RGD:2317609 NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
JBrowse link
G DCN decorin ISO RGD PMID:18688028 RGD:2311418 NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO DNA:amplification:cds, 3' utr (human) RGD PMID:18413808 PMID:18522728 RGD:2293728 RGD:2293732 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G ENO2 enolase 2 ISO RGD PMID:16608642 RGD:2293740 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342
JBrowse link
G EP300 E1A binding protein p300 ISO protein:increased expression:breast RGD PMID:12725419 RGD:2289908 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G ESR1 estrogen receptor 1 disease_progression
severity
ISO protein:increased serine phosphorylation
mRNA, protein:increased expression:breast
RGD PMID:15355923 PMID:18234277 RGD:2290017 RGD:8552986 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G FAS Fas cell surface death receptor ISO protein:decreased expression:breast RGD PMID:15792116 RGD:2290130 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FGF2 fibroblast growth factor 2 disease_progression ISO RGD PMID:8532703 RGD:8655550 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FZD1 frizzled class receptor 1 ISO protein:increased expression:tumor RGD PMID:15492823 RGD:2298699 NCBI chr 7:83,269,906...83,277,608 JBrowse link
G FZD2 frizzled class receptor 2 ISO protein:increased expression:breast RGD PMID:15492823 RGD:2298699 NCBI chr17:12,839,362...12,843,803 JBrowse link
G HDAC1 histone deacetylase 1 ISO RGD PMID:16172792 RGD:2306216 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
JBrowse link
G KDM6B lysine demethylase 6B ISO mRNA:increased expression:breast (human) RGD PMID:23152497 RGD:9587818 NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937
JBrowse link
G KDR kinase insert domain receptor severity
no_association
ISO protein:increased expression:tumor:correlated with nuclear grade of invasive carcinomas (p=0.003)
protein::tumor:no correlation with survival, metastasis or relapse in univariate analysis
RGD PMID:12378509 PMID:15753992 RGD:2291950 RGD:2291952 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:18992199 RGD:2314863 NCBI chr19:47,925,017...47,936,314
Ensembl chr19:56,815,073...56,826,689
JBrowse link
G LOC100976787 mismatch repair endonuclease PMS2 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
G MDC1 mediator of DNA damage checkpoint 1 ISO protein:decreased expression:breast (human) RGD PMID:17546051 RGD:9589053 NCBI chr 6:30,444,570...30,462,432
Ensembl chr 6:31,314,560...31,329,243
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:21970370 PMID:25741868 PMID:28166811 PMID:28259294 PMID:28492532 More... NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:15713769 PMID:16083711 PMID:17510385 PMID:20533529 PMID:21404117 More... NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
JBrowse link
G MMP14 matrix metallopeptidase 14 disease_progression ISO RGD PMID:9158005 RGD:2314951 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:polymorphisms:intron, exon:multiple (human)
ClinVar Annotator: match by term: Breast carcinoma
protein:decreased expression:tumor (human)
RGD
ClinVar
PMID:14511253 PMID:19383352 PMID:23080121 PMID:23912341 PMID:28492532 RGD:2300250 RGD:2317721 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
G MSH2 mutS homolog 2 severity
disease_progression
ISO ClinVar Annotator: match by term: Breast carcinoma
protein:decreased expression:breast
RGD
ClinVar
PMID:6096739 PMID:8062247 PMID:8872463 PMID:8895729 PMID:9036882 More... RGD:2293505 RGD:2293507 RGD:2293524 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MSH6 mutS homolog 6 ISO protein:decreased expression:breast
ClinVar Annotator: match by term: Breast carcinoma
RGD
ClinVar
PMID:8838326 PMID:10537275 PMID:10699937 PMID:11470537 PMID:12019211 More... RGD:2293505 RGD:2293507 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G MTUS1 microtubule associated scaffold protein 1 ISO mRNA, protein:decreased expression:breast carcinoma (human) RGD PMID:19794912 RGD:2317017 NCBI chr 8:16,863,307...17,020,684 JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:11818965 PMID:12606733 PMID:15931596 PMID:15987719 PMID:16134147 More... NCBI chr 1:44,632,102...44,643,292 JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307
JBrowse link
G NCOA1 nuclear receptor coactivator 1 severity ISO RGD PMID:17902051 RGD:2293529 NCBI chr2A:24,485,068...24,764,135
Ensembl chr2A:24,733,117...24,859,488
JBrowse link
G NCOA3 nuclear receptor coactivator 3 severity ISO protein:increased expression:breast (human) RGD PMID:12725419 RGD:2289908 NCBI chr20:43,838,227...43,992,407
Ensembl chr20:45,000,422...45,073,549
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:9036878 RGD:2299061 NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636
JBrowse link
G NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 disease_progression ISO DNA:SNP: :rs1143684 (human) RGD PMID:21351093 RGD:11073689 NCBI chr 6:2,819,422...2,844,765
Ensembl chr 6:2,928,021...2,947,304
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:17200668 PMID:18302019 PMID:18987736 PMID:19763884 PMID:20091115 More... NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G PARL presenilin associated rhomboid like severity ISO mRNA:increased expression:breast (human) RGD PMID:24185965 RGD:12902629 NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha disease_progression ISO protein:increased expression:breast RGD PMID:16741576 RGD:2292178 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
JBrowse link
G PDGFRB platelet derived growth factor receptor beta disease_progression ISO protein:increased expression:breast RGD PMID:16741576 RGD:2292178 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO protein:increased expression:breast RGD PMID:1683701 RGD:2299875 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
JBrowse link
G PLK1 polo like kinase 1 severity ISO protein:increased expression:breast RGD PMID:15785925 RGD:2299942 NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779
JBrowse link
G PLK3 polo like kinase 3 disease_progression ISO protein:increased expression:breast RGD PMID:15785925 RGD:2299942 NCBI chr 1:44,104,564...44,110,162
Ensembl chr 1:45,470,016...45,476,021
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
JBrowse link
G PRSS8 serine protease 8 ISO RGD PMID:11774283 RGD:2292485 NCBI chr16:23,833,127...23,837,466
Ensembl chr16:31,500,225...31,504,623
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO protein:altered expression:tumor (rat) RGD PMID:21889127 RGD:9854639 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:16385572 PMID:19409520 PMID:25741868 PMID:26023681 PMID:28492532 NCBI chr 5:127,972,630...128,059,911 JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:20400964 PMID:21990120 PMID:22538716 PMID:22725699 PMID:23117857 More... NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701
JBrowse link
G RAD51D RAD51 paralog D ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:21822267 PMID:25741868 PMID:26720727 PMID:26720728 PMID:28492532 More... NCBI chr17:21,666,236...21,693,886
Ensembl chr17:21,958,212...21,978,406
JBrowse link
G RHOA ras homolog family member A ISO RGD PMID:17007568 RGD:2298868 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO protein:increased expression:tumor (human) RGD PMID:21556566 RGD:5133696 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640
JBrowse link
G SMAD2 SMAD family member 2 disease_progression ISO RGD PMID:11809701 RGD:2300007 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
JBrowse link
G SNW1 SNW domain containing 1 severity ISO protein:increased expression:breast (human) RGD PMID:24150787 RGD:11035252 NCBI chr14:58,271,830...58,315,773
Ensembl chr14:77,472,387...77,517,315
JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:breast RGD PMID:15212687 RGD:2302558 NCBI chr 5:6,953,795...6,996,010
Ensembl chr 5:6,629,093...6,664,264
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:breast RGD PMID:15212687 RGD:2302558 NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718
JBrowse link
G STAT1 signal transducer and activator of transcription 1 disease_progression ISO protein:increased activity:breast RGD PMID:12374673 RGD:2291894 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
JBrowse link
G STK11 serine/threonine kinase 11 ISO protein:decreased expression:breast
ClinVar Annotator: match by term: Breast carcinoma
RGD
ClinVar
PMID:16287113 PMID:16785781 PMID:17676035 PMID:24033266 PMID:25186627 More... RGD:2291945 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:15814878 PMID:17460043 PMID:18753630 PMID:18931339 PMID:19147845 More... NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TFRC transferrin receptor ISO RGD PMID:11497259 RGD:2292020 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G THOC5 THO complex 5 ISO DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human) RGD PMID:16959974 RGD:2317225 NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346
JBrowse link
G THRB thyroid hormone receptor beta ISO DNA:loss of heterozygosity (human) RGD PMID:2573734 RGD:2315100 NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 disease_progression ISO protein:decreased expression:breast
associated with Tumor Virus Infections;DNA:hypermethylation:promoter
RGD PMID:17032447 PMID:18205041 RGD:2290409 RGD:2290413 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Breast carcinoma ClinVar PMID:1565143 PMID:1683921 PMID:7887414 PMID:8118819 PMID:9242456 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TSG101 tumor susceptibility 101 susceptibility ISO DNA:deletions RGD PMID:9019400 RGD:1600429 NCBI chr11:18,518,110...18,564,814
Ensembl chr11:18,189,868...18,248,149
JBrowse link
G VEGFC vascular endothelial growth factor C ISO RGD PMID:19382240 RGD:2315477 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
JBrowse link
G WNT2 Wnt family member 2 disease_progression ISO DNA:amplification:breast RGD PMID:7903963 RGD:2291879 NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
JBrowse link
G ZFHX3 zinc finger homeobox 3 disease_progression ISO RGD PMID:15671546 RGD:2315696 NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360
JBrowse link
bilateral breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bilateral Breast Carcinoma ClinVar PMID:19781682 PMID:25741868 PMID:26689913 PMID:26787654 PMID:28492532 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:23047549 PMID:23621914 PMID:25741868 PMID:26467025 PMID:26689913 More... NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:20852946 PMID:22692731 PMID:24448499 PMID:24556926 PMID:25186627 More... NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:17102082 PMID:19351833 PMID:20208144 PMID:21520333 PMID:23175444 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
breast adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:8589721 RGD:126925966 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G CAT catalase ISO RGD PMID:25050522 RGD:9226881 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCNE1 cyclin E1 ISO DNA:amplification RGD PMID:18089785 RGD:2289225 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO mRNA:increased expression:mammary epithelium (rat) RGD PMID:11097088 RGD:7829735 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15 RGD PMID:11466624 RGD:2289868 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:12460918 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G KSR1 kinase suppressor of ras 1 severity ISO RGD PMID:24909178 RGD:127229932 NCBI chr17:29,148,382...29,316,829
Ensembl chr17:29,649,105...29,720,651
JBrowse link
G MUC1 mucin 1, cell surface associated ISO mRNA,protein:increased expression:breast RGD PMID:7678777 RGD:2324855 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr10:106,799,511...106,878,697 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G RB1CC1 RB1 inducible coiled-coil 1 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:12068296 NCBI chr 8:49,046,830...49,138,795
Ensembl chr 8:46,430,131...46,521,722
JBrowse link
G SLC22A18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:9520460 NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958
JBrowse link
G TNF tumor necrosis factor ISO human protein in a rat model RGD PMID:12536235 RGD:14995452 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar PMID:1673792 PMID:1686725 PMID:7881428 PMID:8364550 PMID:10713666 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
breast carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2R insulin like growth factor 2 receptor ISO DNA:loss of heterozygosity RGD PMID:8649861 RGD:2311631 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
JBrowse link
breast ductal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr16:36,647,792...36,711,782
Ensembl chr16:55,780,633...55,843,744
JBrowse link
G BCAR1 BCAR1 scaffold protein, Cas family member ISO RGD PMID:11605729 RGD:1579979 NCBI chr16:55,798,578...55,838,448
Ensembl chr16:75,150,122...75,188,775
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar PMID:9063749 PMID:10196379 PMID:11400546 PMID:14555511 PMID:15235020 More... NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar PMID:11062481 PMID:11927503 PMID:14555511 PMID:15235023 PMID:17767707 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar PMID:26467025 PMID:27148582 PMID:28492532 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CCDC180 coiled-coil domain containing 180 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 9:68,380,995...68,467,787
Ensembl chr 9:96,503,785...96,589,386
JBrowse link
G CCDC71L coiled-coil domain containing 71 like ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 7:98,630,275...98,634,657 JBrowse link
G CD44 CD44 molecule (Indian blood group) disease_progression ISO mRNA, protein:splice variant, increased expression:breast RGD PMID:16425351 RGD:2289356 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr10:95,942,366...96,009,729
Ensembl chr10:99,436,669...99,500,860
JBrowse link
G CORO6 coronin 6 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr17:27,151,620...27,159,795
Ensembl chr17:27,668,659...27,676,808
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr19:16,379,956...16,513,841 JBrowse link
G CPXM2 carboxypeptidase X, M14 family member 2 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr10:120,302,984...120,449,022
Ensembl chr10:124,576,161...124,721,359
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 severity ISO protein:increased expression:breast RGD PMID:12054692 RGD:2298489 NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475
JBrowse link
G FUBP1 far upstream element binding protein 1 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 1:77,162,675...77,198,486 JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr2A:74,596,020...74,599,790
Ensembl chr2A:76,102,240...76,106,152
JBrowse link
G KNDC1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar Ensembl chr10:134,068,936...134,132,964 JBrowse link
G LOC100979908 lysine-specific demethylase 4E ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr11:90,039,540...90,041,341
Ensembl chr11:93,561,957...93,563,477
JBrowse link
G LOC103786998 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr21:30,852,633...30,853,640 JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
JBrowse link
G MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr11:12,278,223...12,431,027
Ensembl chr11:12,022,093...12,123,855
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G NTS neurotensin ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr12:83,402,313...83,410,356
Ensembl chr12:86,640,720...86,648,745
JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964
JBrowse link
G PLK4 polo like kinase 4 ISO protein:increased expression:breast RGD PMID:26439168 RGD:11075990 NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883
JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar PMID:10362365 NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259
JBrowse link
G RNF212 ring finger protein 212 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153
JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 8:50,979,412...51,311,431
Ensembl chr 8:48,419,033...48,583,879
Ensembl chr 8:48,419,033...48,583,879
JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430
JBrowse link
G SPEN spen family transcriptional repressor ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585
JBrowse link
G SYT6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 1:88,397,809...88,467,493
Ensembl chr 1:123,452,889...123,514,795
JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO mRNA:decreased expression:breast RGD PMID:17011986 RGD:2290492 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
JBrowse link
G TP73 tumor protein p73 ISO mRNA:decreased expression:breast RGD PMID:17011986 RGD:2290492 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
G TSPAN8 tetraspanin 8 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr12:68,653,209...68,686,565
Ensembl chr12:71,417,577...71,450,873
JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
JBrowse link
G XIAP X-linked inhibitor of apoptosis severity ISO RGD PMID:17350670 RGD:2315853 NCBI chr  X:113,052,164...113,105,160
Ensembl chr  X:123,232,643...123,278,606
JBrowse link
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942
JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047
JBrowse link
G ZNF420 zinc finger protein 420 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr19:34,039,699...34,093,881 JBrowse link
G ZNF473 zinc finger protein 473 ISO ClinVar Annotator: match by term: Ductal breast carcinoma ClinVar NCBI chr19:47,038,131...47,061,202
Ensembl chr19:55,953,766...55,980,946
JBrowse link
breast lobular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTR2 angiotensin II receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8389152 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8557030 PMID:17660459 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15609129 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr 1:177,945,674...178,185,871
Ensembl chr 1:182,243,497...182,482,216
JBrowse link
G TP53BP2 tumor protein p53 binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28650484 NCBI chr 1:199,403,194...199,469,079
Ensembl chr 1:204,414,218...204,457,739
JBrowse link
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
JBrowse link
G ANXA1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G AR androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G AREG amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
JBrowse link
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:25861310 RGD:127284854 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G BRCA2 BRCA2 DNA repair associated onset
treatment
ISO DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:127284854 RGD:2289048 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CA9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
JBrowse link
G CASP6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 4:102,186,215...102,201,992
Ensembl chr 4:112,753,988...112,768,836
JBrowse link
G CCND1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCND2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:breast RGD PMID:15788662 PMID:17119686 RGD:2289931 RGD:2289981 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism
protein:altered localization:nucleus
CTD
RGD
PMID:16080559 PMID:20526721 RGD:2306227 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HOXB13 homeobox B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
JBrowse link
G KLK10 kallikrein related peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr19:47,980,177...47,987,617
Ensembl chr19:56,869,530...56,876,649
JBrowse link
G LDHB lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr12:64,640,994...64,663,418
Ensembl chr12:67,245,130...67,267,487
JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO protein:decreased expression:breast
protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15609129 PMID:16133357 RGD:2291930 RGD:2291932 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507
JBrowse link
G PGR progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PRKCA protein kinase C alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:18199541 PMID:18237383 RGD:2300199 RGD:2300203 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TFF1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
JBrowse link
G TOP2A DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:breast
ClinVar Annotator: match by term: Ductal carcinoma in situ
RGD
ClinVar
PMID:1565143 PMID:1683921 PMID:7887414 PMID:9242456 PMID:9569050 More... RGD:2289931 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TYMP thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr22:30,772,088...30,776,618 JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
Ehrlich tumor carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40 CD40 molecule treatment ISO RGD PMID:19269163 RGD:11352683 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:19269163 RGD:11352683 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
invasive ductal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 disease_progression ISO RGD PMID:19879256 RGD:2315549 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ADGRB1 adhesion G protein-coupled receptor B1 disease_progression ISO RGD PMID:25376607 RGD:13831358 NCBI chr 8:139,154,065...139,251,115
Ensembl chr 8:142,220,827...142,301,070
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:breast RGD PMID:22366088 RGD:8695990 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO DNA:missense mutation:p.E17K (human) RGD PMID:18392055 RGD:13209138 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G ANXA1 annexin A1 treatment ISO RGD PMID:18776816 PMID:19171478 RGD:7421535 RGD:7421560 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G ANXA2 annexin A2 treatment ISO RGD PMID:19171478 RGD:7421560 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G AR androgen receptor severity ISO RGD PMID:16075292 RGD:1643344 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G AREG amphiregulin ISO RGD PMID:11523048 RGD:2292660 NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:breast (human) RGD PMID:21136934 RGD:11049179 NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
JBrowse link
G ATF4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14604972 NCBI chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249
JBrowse link
G AURKA aurora kinase A ISO protein:altered expression RGD PMID:14693746 RGD:1643348 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
JBrowse link
G BAG1 BAG cochaperone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19066611 NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast ClinVar PMID:7493024 PMID:11179017 PMID:11956590 PMID:12698193 PMID:12955716 More... NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast
ClinVar Annotator: match by term: Invasive Ductal Carcinoma, Not Otherwise Specified
ClinVar PMID:14973102 PMID:15145354 PMID:17899372 PMID:18627636 PMID:18779604 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator disease_progression ISO mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors RGD PMID:15592684 RGD:2289400 NCBI chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:missense mutation: :p.P132L (human) RGD PMID:21909981 RGD:8661779 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:breast, ductal carcinoma (human) RGD PMID:18790652 RGD:4891911 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCND3 cyclin D3 severity ISO protein:increased expression:breast RGD PMID:11329139 RGD:2316016 NCBI chr 6:41,518,421...41,630,103
Ensembl chr 6:42,820,569...42,827,498
JBrowse link
G CD44 CD44 molecule (Indian blood group) disease_progression ISO protein:increased expression:breast RGD PMID:17059779 RGD:2289352 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8557030 PMID:17660459 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:hypermethylation:promoter:breast, serum RGD PMID:17383681 RGD:2289677 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CLDN4 claudin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19142967 Ensembl chr 7:80,983,832...80,984,461 JBrowse link
G CLU clusterin ISO RGD PMID:10934144 RGD:8699513 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein disease_progression ISO protein:increased expression:breast RGD PMID:23686806 RGD:7488897 NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858
JBrowse link
G CSNK1E casein kinase 1 epsilon ISO DNA:mutation:CDS:multiple nonsynonymous mutations RGD PMID:14871824 RGD:2306813 NCBI chr22:19,202,599...19,229,344 JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO DNA:mutation:CDS:multiple nonsynonymous mutations RGD PMID:14871824 RGD:2306813 NCBI chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO mRNA, protein:increased expression:breast RGD PMID:11742495 RGD:2289858 NCBI chr 8:106,190,208...106,216,402
Ensembl chr 8:108,335,590...108,361,475
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28235801 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:14532106 RGD:9588325 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO protein:increased expression:breast (human) RGD PMID:19141649 RGD:11554027 NCBI chr  X:46,648,765...46,699,444
Ensembl chr  X:54,880,513...54,930,672
JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04) RGD PMID:12231533 RGD:2289894 NCBI chr 3:59,670,777...61,177,974 JBrowse link
G FOXC1 forkhead box C1 disease_progression ISO RGD PMID:21424368 RGD:8662363 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:altered localization:nucleus RGD PMID:16080559 RGD:2306227 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HOXB7 homeobox B7 ISO mRNA:increased expression:breast epithelium (human) RGD PMID:17018609 RGD:10402178 NCBI chr17:8,925,717...8,929,523
Ensembl chr17:9,110,864...9,114,639
JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 severity ISO protein:decreased expression:ductal breast carcinoma (human) RGD PMID:10682658 RGD:4890946 NCBI chr17:14,760,856...14,763,584
Ensembl chr17:14,986,814...14,988,820
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:breast RGD PMID:22135852 RGD:8549515 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:breast RGD PMID:21263407 RGD:8655888 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly lower in invasive, infiltrating and metastatic tumors than in ductal carcinoma in situ tumors RGD PMID:15583806 RGD:2290390 NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386
JBrowse link
G JUP junction plakoglobin disease_progression ISO protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012) RGD PMID:16610682 RGD:2291882 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G KISS1 KiSS-1 metastasis suppressor disease_progression ISO mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors RGD PMID:15592684 RGD:2289400 NCBI chr 1:179,792,116...179,800,377
Ensembl chr 1:184,080,570...184,104,815
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO protein:decreased expression:tumor:loss of expression associated with lymph node metastasis (p<0.0001) and reduced disease-free survival (p=0.0041) RGD PMID:16721362 RGD:2292426 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 disease_progression ISO mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors RGD PMID:15592684 RGD:2289400 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity ISO protein:increased expression:tumor (human) RGD PMID:10590366 RGD:2317607 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MMP13 matrix metallopeptidase 13 disease_progression ISO mRNA, protein:increased expression:tumor:associated with microinvasion during the transition from ductal carcinoma in situ to invasive carcinoma, also expressed in all invasive ductal carcinomas tested RGD PMID:11585740 RGD:2293606 NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
JBrowse link
G NCOA4 nuclear receptor coactivator 4 ISO protein:decreased expression:breast RGD PMID:11561770 RGD:2293536 NCBI chr10:43,159,014...43,184,558
Ensembl chr10:46,420,952...46,443,223
JBrowse link
G NEFL neurofilament light chain ISO DNA:loss of heterozygosity RGD PMID:8814452 RGD:2298999 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G PCNA proliferating cell nuclear antigen severity ISO RGD PMID:8102204 RGD:2315014 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G PRKCI protein kinase C iota disease_progression ISO protein:increased expression, altered localization:breast, cytoplasm RGD PMID:18538170 RGD:2314932 NCBI chr 3:167,237,093...167,320,522
Ensembl chr 3:175,426,774...175,510,072
JBrowse link
G PTGER1 prostaglandin E receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11751431 NCBI chr19:14,035,876...14,038,812 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21153458 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RAD50 RAD50 double strand break repair protein ISO protein:decreased expression:tumor:reduced in 28% vs adjacent or independent normal breast tissue RGD PMID:14511253 RGD:2300250 NCBI chr 5:127,972,630...128,059,911 JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO DNA:promoter:hypermethylation protein:mislocalization RGD PMID:18256927 RGD:2302557 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
JBrowse link
G SERPINB5 serpin family B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19944674 NCBI chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624
JBrowse link
G SLC9A3R1 SLC9A3 regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28235801 NCBI chr17:68,694,468...68,715,157
Ensembl chr17:74,250,406...74,271,234
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20565773 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23964924 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO RGD PMID:17054309 RGD:2291958 NCBI chr12:38,986,844...39,010,307
Ensembl chr12:39,879,951...39,902,303
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ISO DNA:mutation:CDS:multiple nonsynonymous mutations RGD PMID:14871824 RGD:2306813 NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913
JBrowse link
G VEGFC vascular endothelial growth factor C disease_progression ISO RGD PMID:19885590 RGD:2315471 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO protein:decreased expression:breast RGD PMID:14517837 RGD:727214 NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:18752184 RGD:2302569 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link
invasive lobular carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Invasive Lobular Breast Carcinoma ClinVar PMID:14973102 PMID:25741868 PMID:27257965 PMID:27907908 PMID:28222693 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CCND1 cyclin D1 ISO DNA:amplification:cds (human)
protein:increased expression:breast
RGD PMID:12203362 PMID:12448002 RGD:11353788 RGD:2289133 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCND2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
JBrowse link
G CD44 CD44 molecule (Indian blood group) ISO mRNA, protein:splice variants, altered localization:breast RGD PMID:11245336 RGD:2289362 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
JBrowse link
G CDH1 cadherin 1 ISO DNA:nonsense mutation: :517insA (human) RGD PMID:17660459 PMID:18213475 RGD:2289450 RGD:2289492 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CTNNA1 catenin alpha 1 ISO protein:decreased expression:breast RGD PMID:12047765 RGD:2289795 NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
JBrowse link
G CTNNB1 catenin beta 1 ISO protein:decreased expression:breast RGD PMID:17721269 RGD:2289814 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 severity ISO RGD PMID:16761510 RGD:2289935 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G FASLG Fas ligand ISO protein:increased expression:breast RGD PMID:10640988 RGD:2290134 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO protein:altered localization:nucleus RGD PMID:15609129 RGD:2291932 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
JBrowse link
mammary Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO DNA:amplification RGD PMID:16932067 RGD:2289933 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
sporadic breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 no_association ISO DNA:hypermethylation:promoter
DNA:repeat:promoter
RGD PMID:17904846 PMID:17932744 RGD:2290043 RGD:8552977 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, breast RGD PMID:12173039 RGD:2293522 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) RGD PMID:28330681 RGD:38501055 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G PHB prohibitin ISO DNA:loss of heterozygosity, mutations: :multiple RGD PMID:1540973 RGD:2292408 NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790
JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:hypermethylation:promoter: (human) RGD PMID:15287024 RGD:12859037 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13851
    disease of cellular proliferation 6611
      Neoplasms by Site 6280
        Breast Neoplasms 1137
          breast cancer 614
            breast carcinoma 255
              Ehrlich tumor carcinoma 2
              bilateral breast cancer + 7
              breast adenocarcinoma + 16
              breast adenoid cystic carcinoma 0
              breast carcinoma in situ + 50
              breast ductal carcinoma + 105
              breast large cell neuroendocrine carcinoma 0
              breast lobular carcinoma + 14
              breast metaplastic carcinoma + 0
              breast myoepithelial carcinoma 0
              breast papillary carcinoma 0
              breast scirrhous carcinoma 0
              cribriform carcinoma 0
              female breast carcinoma 0
              lipid-rich carcinoma + 0
              luminal breast carcinoma A 0
              luminal breast carcinoma B 0
              nipple carcinoma + 0
              sebaceous breast carcinoma 0
              sporadic breast cancer 5
Path 2
Term Annotations click to browse term
  disease 13851
    disease of anatomical entity 13508
      nervous system disease 11186
        sensory system disease 5155
          skin disease 2712
            breast disease 1144
              Breast Neoplasms 1137
                breast cancer 614
                  breast carcinoma 255
                    Ehrlich tumor carcinoma 2
                    bilateral breast cancer + 7
                    breast adenocarcinoma + 16
                    breast adenoid cystic carcinoma 0
                    breast carcinoma in situ + 50
                    breast ductal carcinoma + 105
                    breast large cell neuroendocrine carcinoma 0
                    breast lobular carcinoma + 14
                    breast metaplastic carcinoma + 0
                    breast myoepithelial carcinoma 0
                    breast papillary carcinoma 0
                    breast scirrhous carcinoma 0
                    cribriform carcinoma 0
                    female breast carcinoma 0
                    lipid-rich carcinoma + 0
                    luminal breast carcinoma A 0
                    luminal breast carcinoma B 0
                    nipple carcinoma + 0
                    sebaceous breast carcinoma 0
                    sporadic breast cancer 5
paths to the root