Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:thoracic cancer
go back to main search page
Accession:DOID:5093 term browser browse the term
Definition:An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. (DO)
Synonyms:exact_synonym: thorax cancer
 primary_id: RDO:9002767
 xref: ICD10CM:C76.1;   ICD9CM:195.1;   NCI:C3406;   NCI:C3576
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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 chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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 chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Brca1 BRCA1, DNA repair associated treatment ISO RGD PMID:8589721 RGD:126925966 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Cat catalase ISO RGD PMID:25050522 RGD:9226881 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccne1 cyclin E1 ISO DNA:amplification RGD PMID:18089785 RGD:2289225 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Ccng1 cyclin G1 ISO mRNA, protein:altered expression:mammary (mouse) RGD PMID:11146550 RGD:2315939 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP mRNA:increased expression:mammary epithelium (rat) RGD PMID:11097088 RGD:7829735 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 no_association ISO RGD PMID:11466624 RGD:2289868 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO mRNA:increased expression:breast RGD PMID:9811352 RGD:2306185 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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 chr 4:178,185,418...178,218,484 JBrowse link
G Ksr1 kinase suppressor of ras 1 severity ISO RGD PMID:24909178 RGD:127229932 NCBI chr10:63,961,771...64,098,076
Ensembl chr10:63,961,759...64,098,076
JBrowse link
G Muc1 mucin 1, cell surface associated ISO mRNA,protein:increased expression:breast RGD PMID:7678777 RGD:2324855 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein IAGP RGD PMID:10849326 RGD:1298988 NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681
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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:12068296 NCBI chr 5:13,161,648...13,225,560
Ensembl chr 5:13,161,648...13,225,560
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:9520460 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
JBrowse link
G Tnf tumor necrosis factor ISO human protein in a rat model RGD PMID:12536235 RGD:14995452 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar
RGD
PMID:1673792 PMID:1686725 PMID:7881428 PMID:8364550 PMID:10713666 More... RGD:2315939 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
JBrowse link
breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion, haplotype RGD PMID:23828384 RGD:8548866 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acsl3 acyl-CoA synthetase long-chain family member 3 disease_progression ISO DNA:deletion
mRNA:increased expression:breast
RGD PMID:28977883 PMID:23512947 RGD:13831299, RGD:13831301 NCBI chr 9:80,140,996...80,164,636
Ensembl chr 9:80,115,112...80,164,627
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing no_association ISO DNA:SNPs: :rs1501299, rs2241766 (human)
protein:decreased expression:serum
RGD PMID:18451143 PMID:17192291 PMID:16019138 PMID:19723917 RGD:8694415, RGD:8694447, RGD:8694425, RGD:8694417 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adipor1 adiponectin receptor 1 no_association ISO DNA:SNPs: :rs7539542 (human) RGD PMID:18451143 PMID:19723917 RGD:8694415, RGD:8694417 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adipor2 adiponectin receptor 2 no_association ISO RGD PMID:19723917 RGD:8694417 NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
JBrowse link
G Adm adrenomedullin ISO RGD PMID:16841081 RGD:2325318 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Adsl adenylosuccinate lyase severity ISO
IEP
protein:increased activity:tumor (human)
protein:increased activity:tumor (rat)
RGD PMID:3690833 PMID:2937404 RGD:1598760, RGD:1598766 NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Agr2 anterior gradient 2, protein disulphide isomerase family member disease_progression ISO RGD PMID:16598187 RGD:2325661 NCBI chr 6:52,708,602...52,729,378
Ensembl chr 6:52,708,602...52,729,371
JBrowse link
G Agt angiotensinogen susceptibility ISO DNA:polymorphism: :p.M235T (human)
protein:increased expression:serum
DNA:polymorphisms, haplotypes: :p.T174M, p.M235T (human)
RGD PMID:16823505 PMID:23374911 PMID:23828384 RGD:8548861, RGD:8548901, RGD:8548866 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO DNA:polymorphism, haplotype: :1166A>C (human) RGD PMID:23828384 RGD:8548866 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Aif1l allograft inflammatory factor 1-like severity ISO RGD PMID:30233209 RGD:13842475 NCBI chr 3:15,229,476...15,254,033
Ensembl chr 3:15,229,524...15,254,023
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO mRNA:increased expression:breast RGD PMID:25526449 RGD:27226689 NCBI chr 5:130,092,945...130,130,277
Ensembl chr 5:130,092,732...130,113,674
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Breast cancer, somatic OMIM
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type disease_progression ISO mRNA:increased expression:breast RGD PMID:19282568 RGD:2315607 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO DNA:polymorphism:g.-4800A>G (human) RGD PMID:18843019 RGD:2313902 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Amh anti-Mullerian hormone onset ISO RGD PMID:19820206 RGD:2315637 NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 disease_progression ISO mRNA:increased expression:breast: RGD PMID:17016666 RGD:9684946 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
G Anxa7 annexin A7 disease_progression ISO protein:increased expression:breast RGD PMID:15073110 RGD:2292655 NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385
JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:7689011 PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Apc APC regulator of WNT signaling pathway ISS
ISO
OMIM:114480
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
MouseDO
ClinVar
PMID:8940262 PMID:9288102 PMID:9585599 PMID:9724771 PMID:9731522 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18701435 RGD:2315661 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO DNA:polymorphism:exon:
DNA:polymprphism:exon:
RGD PMID:15830139 PMID:16752225 RGD:7495789, RGD:7771592 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Areg amphiregulin ISO RGD PMID:16438846 RGD:2292658 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Arid1a AT-rich interaction domain 1A treatment ISO human cells in mouse model RGD PMID:26069190 RGD:11072938 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Asf1b anti-silencing function 1B histone chaperone disease_progression ISO RGD PMID:21179005 RGD:9586017 NCBI chr19:24,181,024...24,195,604
Ensembl chr19:24,181,028...24,195,549
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
OMIM
RGD
PMID:2677459 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 More... RGD:1643350 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Malignant breast neoplasm ClinVar PMID:21541676 PMID:25236910 PMID:26467025 PMID:28492532 PMID:29114927 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:17004114 RGD:2292674 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bag1 BAG cochaperone 1 disease_progression ISO protein:increased expression:breast RGD PMID:11181661 RGD:2293888 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
JBrowse link
G Bard1 BRCA1 associated RING domain 1 severity
no_association
susceptibility
ISO protein:increased expression, altered localization:breast
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:polymorphism: :p.C557S (human)
DNA:polymorphisms: :p.P24S, p.R378S (human)
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms: :p.V507M, p.C557S (human)
DNA:polymorphism: :p.V507M (human)
ClinVar
OMIM
RGD
PMID:9425226 PMID:9536098 PMID:11807980 PMID:14550946 PMID:15342711 More... RGD:2315727, RGD:2315714, RGD:2315713, RGD:2315715, RGD:2315716, RGD:2315717, RGD:2315729 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
JBrowse link
G Bax BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17626754 RGD:1643353 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcar1 BCAR1 scaffold protein, Cas family member severity ISO protein:increased expression:breast, cytosol (human) RGD PMID:15448007 RGD:8547748 NCBI chr19:39,679,218...39,713,952
Ensembl chr19:39,679,204...39,713,907
JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO DNA:amplification:cds (human) RGD PMID:12169396 RGD:9850147 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
JBrowse link
G Bcas3 BCAS3, microtubule associated cell migration factor ISO RGD PMID:16855396 RGD:2317828 NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:16850344 RGD:1643481 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bik BCL2-interacting killer ISO RGD PMID:14633680 RGD:14394816 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO RGD PMID:12218061 RGD:1643528 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO mRNA:decreased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO mRNA:increased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:22703879 PMID:23399955 PMID:24033266 PMID:24448499 PMID:24728327 More... NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Brca1 BRCA1, DNA repair associated susceptibility ISO
ISS
DNA:mutation
ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:loss of heterozygosity,deletion, duplication: :c.1504_1508delTTAAA, c.211dupA, c.5266dupC (human)
mRNA, protein:splice variant
OMIM:114480
mRNA:allelic imbalance:lymphocyte
DNA:hypermethylation:promoter
ClinVar
MouseDO
RGD
PMID:1157798 PMID:1673748 PMID:2504116 PMID:2505045 PMID:7493024 More... RGD:1599497, RGD:127284852, RGD:126925963, RGD:734655, RGD:2293153, RGD:2293151 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
OMIM
ClinVar
PMID:234495 PMID:1169856 PMID:3146935 PMID:3413277 PMID:6295337 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brip1 BRCA1 interacting helicase 1 onset
susceptibility
ISO DNA:missense mutations:cds:p.P47A, p.M299I (human)
ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human)
DNA:mutations:multiple (human)
DNA:snp:3' utr:C>A (rs7220740) (human)
DNA:missense mutation:cds:p.Q944E (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... RGD:1600525, RGD:11252109, RGD:11252107, RGD:11252100, RGD:11251779 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO protein:decreased expression:breast, nucleus RGD PMID:16849553 RGD:2289068 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8755918 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Casp3 caspase 3 severity ISO protein:decreased expression:breast RGD PMID:18227733 PMID:23979166 RGD:2293092, RGD:13209143 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp7 caspase 7 disease_progression ISO RGD PMID:23979166 RGD:13209143 NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Breast cancer, protection against OMIM
ClinVar
PMID:15601643 PMID:15998955 PMID:17293864 PMID:24033266 PMID:28492532 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 ISO mRNA:decreased expression:breast RGD PMID:17011986 RGD:2290492 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Malignant breast neoplasm ClinVar PMID:8636323 PMID:10023897 PMID:10217111 PMID:10912749 PMID:11161843 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cav1 caveolin 1 no_association
disease_progression
ISO
ISS
DNA, protein:hypermethylation, decreased expression:promoter, breast
OMIM:114480
DNA:SNPs: :multiple
DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human)
MouseDO
RGD
PMID:15375584 PMID:21965771 PMID:21965771 PMID:21585620 RGD:2289105, RGD:8661769, RGD:8661769, RGD:8661766 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cbx7 chromobox 7 severity ISO human gene in a mouse model RGD PMID:25351982 RGD:11352704 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Ccnb1 cyclin B1 disease_progression ISO RGD PMID:19223507 PMID:19957331 RGD:2315937, RGD:2315934 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:30308939 RGD:151665105 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Ccne1 cyclin E1 disease_progression ISO RGD PMID:17483245 RGD:2289231 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Ccng1 cyclin G1 treatment IEP RGD PMID:23791885 RGD:151356928 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:breast
RGD PMID:14597737 PMID:24301790 RGD:8551810, RGD:8551816 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:21624121 RGD:7483628 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) disease_progression ISO RGD PMID:18676748 PMID:15102687 RGD:2326166, RGD:2326170 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
JBrowse link
G Cdc25c cell division cycle 25C ISO protein:increased expression:breast RGD PMID:15567944 RGD:4105448 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
JBrowse link
G Cdc73 cell division cycle 73 exacerbates ISO mRNA:increased expression:breast (human) RGD PMID:29221126 RGD:150539444 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
OMIM
ClinVar
PMID:2449335 PMID:8075649 PMID:8557030 PMID:11196175 PMID:11241409 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cdh13 cadherin 13 ISO DNA:hypermethylation
protein:decreased expression:breast duct:
RGD PMID:17764565 PMID:8673923 RGD:2293542, RGD:734735 NCBI chr19:46,349,562...47,387,462
Ensembl chr19:46,349,430...47,387,459
JBrowse link
G Cdk1 cyclin-dependent kinase 1 disease_progression
susceptibility
ISO DNA:SNP:intron:rs16941635 (human) RGD PMID:17956886 PMID:19377877 RGD:2708463, RGD:2683526 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
JBrowse link
G Cdk2 cyclin dependent kinase 2 disease_progression ISO RGD PMID:18236071 RGD:2293557 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO RGD PMID:16440198 RGD:2293576 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:increased localization:cytoplasm
DNA:SNP
RGD PMID:18030569 PMID:12244302 PMID:18174243 RGD:2293594, RGD:734746, RGD:2289652 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A susceptibility ISO DNA:insertion:cds:p.R112_L113insR (human) RGD PMID:10922411 RGD:8552383 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:15274022 RGD:7411730 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide disease_progression ISO RGD PMID:11687975 RGD:2293635 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
JBrowse link
G Chek2 checkpoint kinase 2 susceptibility ISO DNA:missense mutations:p.I157T and p.S428F
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:loss of heterozygosity
ClinVar
OMIM
RGD
PMID:2936834 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 More... RGD:2289703, RGD:2289706 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:12889595 RGD:4892603 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Clu clusterin disease_progression ISO DNA:snp:promoter:g.27611345C>G (rs9331888) (human) RGD PMID:22037783 RGD:8963167 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Comt catechol-O-methyltransferase disease_progression
susceptibility
no_association
ISO DNA:polymorphism: :p.V158M
mRNA:increased expression:breast
RGD PMID:17429315 PMID:17507616 PMID:17562079 PMID:15285606 RGD:2289715, RGD:2289712, RGD:2289710, RGD:2289721 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:nipple aspirate fluid RGD PMID:21139810 RGD:9491787 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:18172291 RGD:2293639 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csf1r colony stimulating factor 1 receptor disease_progression
treatment
ISO RGD PMID:14734466 PMID:25385645 RGD:2293711, RGD:150524304 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO RGD PMID:11827167 RGD:727632 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Ctcf CCCTC-binding factor severity ISO protein:alternative form, increased expression:breast tumor (human) RGD PMID:19737964 RGD:151356756 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:serum:
DNA:SPNs:multiple:
RGD PMID:20482250 PMID:17825114 RGD:7411684, RGD:7421502 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:breast carcinoma, cytosol (human) RGD PMID:9508185 RGD:2315523 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsd cathepsin D ISO human gene in a mouse model RGD PMID:12140763 RGD:1547890 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 susceptibility ISO DNA:polymporhism:(rs8190370)(human) RGD PMID:25225034 RGD:11040537 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:transition:5' utr:-34T>C rs743572 (human)
ClinVar Annotator: match by term: Breast cancer, susceptibility to
ClinVar
RGD
PMID:1740503 PMID:16121340 PMID:28492532 PMID:12631398 RGD:4889142 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 treatment ISO DNA:repeat::(TTTA)10 (human)
DNA:SNP:cds:rs700518 (human)
RGD PMID:16875543 PMID:7053713 PMID:23643682 RGD:2301046, RGD:7257716, RGD:7257707 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association ISO DNA:SNP::rs4646903 (human)
DNA:polymorphisms: :multiple
DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human)
DNA:SNP: :p.I462V (rs1048943) (human)
DNA:SNP:3' utr:6235T>C (human)
RGD PMID:18497059 PMID:9426059 PMID:12496044 PMID:17603290 PMID:21418988 RGD:2301045, RGD:8552810, RGD:8552799, RGD:8552794, RGD:8552792 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO RGD PMID:18497059 RGD:2301045 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO DNA:snp:cds:p.A119S (human) RGD PMID:10739169 RGD:7829734 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:haplotype: : RGD PMID:26799162 RGD:124713411 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 no_association ISO RGD PMID:15180491 RGD:5685600 NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO mRNA, protein:increased expression:breast cancer tissue (human) RGD PMID:31578591 RGD:151347435 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked exacerbates ISO protein:increased expression:breast, nucleus (human) RGD PMID:28761359 RGD:151356502 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dusp1 dual specificity phosphatase 1 disease_progression
severity
ISO protein:increased expression:T cell
protein:increased expression:mammary gland
DNA:hypermethylation:promoter
RGD PMID:9724088 PMID:12618338 PMID:19417026 PMID:22333693 RGD:2298697, RGD:7495809, RGD:7495851, RGD:7495850 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO protein:increased expression:mammary gland RGD PMID:12618338 RGD:7495809 NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
JBrowse link
G Ebag9 estrogen receptor binding site associated antigen 9 ISO DNA:amplification RGD PMID:12160478 RGD:2289857 NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
JBrowse link
G Egfr epidermal growth factor receptor ISO mRNA:increased expression:breast RGD PMID:17465220 RGD:2289949 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO
IEP
protein:decreased expression:tumor (human)
protein:decreased expression:tumor (rat)
RGD PMID:9212230 PMID:9212230 RGD:5131943, RGD:5131943 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO DNA:amplification RGD PMID:10362802 RGD:2289902 NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
JBrowse link
G Eng endoglin treatment ISO human tumor in mouse model RGD PMID:11691802 RGD:7248784 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Epo erythropoietin ISO protein:increased expression:breast: RGD PMID:12118093 RGD:11041669 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Epor erythropoietin receptor ISO protein:increased expression:breast: RGD PMID:12118093 RGD:11041669 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISS OMIM:114480 MouseDO NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:15958648 RGD:13207317 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human) RGD PMID:15598761 RGD:12880387 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISS OMIM:114480 MouseDO NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984
JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association
disease_progression
treatment
ISO DNA:SNPs, haplotypes:promoter, exon
DNA:SNP: :908A>G (p.K303R) (human)
DNA:SNP:exon:2014G>A (human)
DNA:amplification
DNA:SNPs: :rs2234693, rs9340799 (human)
OMIM
RGD
PMID:15604249 PMID:15034868 PMID:17553133 PMID:19636371 PMID:19320640 More... RGD:8552978, RGD:8553053, RGD:8553052, RGD:8552982, RGD:8552981, RGD:8552980, RGD:8552979 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 treatment
susceptibility
no_association
IDA
ISO
DNA:silent mutation:exon:g.1176C>G (rs1256054) (human)
DNA:snps:multiple (human)
DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human)
DNA:snps, haplotype:multiple (human)
DNA:repeat:intron:IVS5(CA)9-31 (human)
DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human)
DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human)
associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human)
DNA:snp:promoter:g.-13950C>T (rs2987983) (human)
DNA:repeat:3' utr:(CA)10-27 (human)
RGD PMID:23700476 PMID:20604969 PMID:19321582 PMID:14633679 PMID:15604249 More... RGD:7364946, RGD:8694116, RGD:8694110, RGD:8694103, RGD:8552978, RGD:8694096, RGD:8694090, RGD:8693382, RGD:8693380, RGD:8693347, RGD:8552977 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G F10 coagulation factor X ISO DNA:SNP: :rs3093261 (human) RGD PMID:25407022 RGD:10449101 NCBI chr16:76,468,834...76,488,141
Ensembl chr16:76,468,838...76,488,141
JBrowse link
G F11r F11 receptor disease_progression ISO RGD PMID:19533747 RGD:7488915 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
JBrowse link
G F5 coagulation factor V no_association ISO DNA:SNPs: :multiple
DNA:SNPs: :rs6025 (human)
RGD PMID:25407022 PMID:25407022 RGD:10449101, RGD:10449101 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G F7 coagulation factor VII ISO mRNA:increased expression:breast (human) RGD PMID:19996301 RGD:11049547 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutations, SNP:exon, 5' utr:p.T266A (c.796A>G, rs7190823), p.G501S (c.1501G>A, rs2239359), c.-1C>A (human)
ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
RGD
PMID:24728327 PMID:25741868 PMID:28492532 PMID:23021409 RGD:11344892 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
JBrowse link
G Fancc FA complementation group C ISO DNA:mutations:exons:
ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
RGD
PMID:7492758 PMID:7689011 PMID:8081385 PMID:08128956 PMID:08348157 More... RGD:11046263 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Malignant tumor of breast
DNA:SNP, haplotype: :rs2272125 (human)
ClinVar
RGD
PMID:24728327 PMID:25741868 PMID:28492532 PMID:33558524 PMID:23897704 More... RGD:10769361, RGD:11344909 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter:-1377G>A RGD PMID:17183065 RGD:2290054 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fen1 flap structure-specific endonuclease 1 disease_progression ISO DNA,mRNA:hypomethylation,increased expression:promoter,breast RGD PMID:19010819 RGD:6484520 NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression
susceptibility
ISO protein:increased expression:mammary gland fluid/secretion RGD PMID:14715109 PMID:12184408 RGD:8655549, RGD:8655587 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:10023681 RGD:2289344 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:17529973 PMID:17529967 RGD:2289658, RGD:2289657 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO RGD PMID:11329138 RGD:2289867 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP protein:increased expression:mammary carcinoma cells RGD PMID:10604730 RGD:2289937 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:27524420 RGD:151665821 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
JBrowse link
G Fubp1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:breast (human) RGD PMID:27157613 RGD:151361193 NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
JBrowse link
G Ghr growth hormone receptor ISO protein:increased expression:serum:cases versus controls (p<0.01) (human) RGD PMID:17287408 RGD:2301716 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghrh growth hormone releasing hormone ISO protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas RGD PMID:1973621 RGD:2289972 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 severity ISO RGD PMID:17692113 RGD:2292541 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:repeat:CDS: (human) RGD PMID:14744747 RGD:152995457 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grb2 growth factor receptor bound protein 2 treatment ISO RGD PMID:17372910 RGD:13504751 NCBI chr10:100,881,404...100,949,193
Ensembl chr10:100,869,718...100,949,309
JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment ISO RGD PMID:23812950 PMID:15302996 RGD:10755330, RGD:14700967 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 treatment ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion RGD PMID:10564681 RGD:2293799 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility ISO DNA:SNP RGD PMID:18708391 RGD:2306170 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hfe homeostatic iron regulator susceptibility
no_association
ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human)
RGD PMID:14973098 PMID:15894659 RGD:8694348, RGD:8694349 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hgf hepatocyte growth factor ISS OMIM:114480 MouseDO NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to OMIM
ClinVar
PMID:25741868 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeats:intron: RGD PMID:15900487 RGD:8157615 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility IEP protein:increased expression:serum (rat) RGD PMID:17584969 RGD:2315650 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: increased expression RGD PMID:21047775 RGD:7242794 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:18719053 RGD:2311512 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 no_association ISO higher serum expression in cases vs controls but association not significant in multivariate analysis (human)
protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001) (human)
RGD PMID:17287408 PMID:10069662 RGD:2301716, RGD:2301715 NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 no_association ISO protein:decreased expression:serum RGD PMID:15298948 PMID:10069662 PMID:17287408 PMID:12925957 RGD:2290011, RGD:2301715, RGD:2301716, RGD:2290009 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 no_association ISO lower serum expression in cases vs controls but association not significant in multivariate analysis (human)
protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016) (human)
RGD PMID:17287408 PMID:10069662 RGD:2301716, RGD:2301715 NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta susceptibility ISO DNA:SNPs: :multiple RGD PMID:22562547 RGD:6484541 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 treatment ISO RGD PMID:11748276 PMID:17438063 RGD:8549514, RGD:8549557 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Il18 interleukin 18 no_association ISO protein:increased expression:serum
DNA:SNP:promoter:-607C>A (rs1946518) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:12209760 PMID:19152241 PMID:19152241 RGD:8655866, RGD:8655899, RGD:8655899 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:polymorphism:promoter:-31T>C (human) RGD PMID:21653279 RGD:7401222 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism::rs2069832(human) RGD PMID:17594514 RGD:7829720 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:tumor:higher expression associated with favorable prognostic markers and increased disease-free survival (P=0.027) RGD PMID:17221153 PMID:8518410 RGD:2290447, RGD:2290465 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Itga1 integrin subunit alpha 1 ISO protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane (human) RGD PMID:9408292 RGD:2302120 NCBI chr 2:46,646,125...46,812,237
Ensembl chr 2:46,653,193...46,812,238
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:16733206 RGD:2290479 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kat2b lysine acetyltransferase 2B severity ISO mRNA:increased expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:missense mutations:cds:p.D1516Y, p.R1577C (human) RGD PMID:23800003 RGD:9590339 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kat7 lysine acetyltransferase 7 severity ISO protein:increased expression:breast (human) RGD PMID:21040551 RGD:9681004 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
JBrowse link
G Kat8 lysine acetyltransferase 8 severity ISO mRNA:increased expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
JBrowse link
G Kdm1a lysine demethylase 1A severity ISO
IEP
mRNA:increased expression:breast (human)
protein:increased expression:breast (rat)
RGD PMID:22199269 PMID:23516587 RGD:9586031, RGD:9588313 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm3b lysine demethylase 3B severity ISO mRNA:decreased expression:breast (human) RGD PMID:23266085 RGD:9586731 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kdm4a lysine demethylase 4A severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kdm4b lysine demethylase 4B severity
treatment
ISO mRNA:decreased expression:breast (human)
human gene in a mouse model
RGD PMID:21445275 PMID:21445275 RGD:9587754, RGD:9587754 NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C severity ISO DNA:snp:cds:p.D396N (rs2296067) (human) RGD PMID:24952432 RGD:9587745 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm5a lysine demethylase 5A severity ISO mRNA:decreased expression:breast (human) RGD PMID:23266085 RGD:9586731 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Kdm5b lysine demethylase 5B treatment ISO human gene in a mouse model RGD PMID:21369698 RGD:9587774 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
JBrowse link
G Kdm5c lysine demethylase 5C severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kdm6a lysine demethylase 6A severity ISO mRNA:increased expression:breast (human) RGD PMID:22199269 PMID:23266085 RGD:9586031 RGD:9586731 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kdm8 lysine demethylase 8 ISO mRNA:increased expression:breast (human) RGD PMID:20457893 RGD:9587844 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:10371349 RGD:2291951 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:18334619 PMID:24469107 PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Kiss1r KISS1 receptor severity ISO RGD PMID:17914099 RGD:2292123 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to ClinVar PMID:12023982 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Klk4 kallikrein-related peptidase 4 disease_progression
severity
ISO mRNA, protein:increased expression:breast RGD PMID:18687310 PMID:19190825 RGD:2314853, RGD:2314852 NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424
JBrowse link
G Kmt2b lysine methyltransferase 2B severity ISO mRNA:increased expression:breast (human) RGD PMID:24491801 RGD:9588564 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO mRNA:decreased expression:breast (human) RGD PMID:23754336 RGD:9588236 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO mRNA:decreased expression:breast (human) RGD PMID:23754336 RGD:9588236 NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Breast cancer, somatic ClinVar
OMIM
RGD
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:12460918 More... RGD:2314909 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Ksr1 kinase suppressor of ras 1 disease_progression ISO RGD PMID:24909178 RGD:127229932 NCBI chr10:63,961,771...64,098,076
Ensembl chr10:63,961,759...64,098,076
JBrowse link
G L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 severity ISO mRNA:decreased expression:breast (human) RGD PMID:21837478 RGD:9588606 NCBI chr 3:151,597,903...151,633,657
Ensembl chr 3:151,602,980...151,631,233
JBrowse link
G Lep leptin ISO protein:increased expression:serum RGD PMID:16019138 RGD:8694425 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Letmd1 LETM1 domain containing 1 ISO protein:increased expression:breast RGD PMID:19208263 RGD:2314917 NCBI chr 7:131,584,241...131,597,797
Ensembl chr 7:131,584,259...131,597,796
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor severity
onset
ISO RGD PMID:17692113 PMID:12679452 PMID:17709176 RGD:2292541, RGD:2292545, RGD:2292539 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase ISO protein:increased expression:breast RGD PMID:10508127 RGD:2314923 NCBI chr 1:58,258,642...58,355,532
Ensembl chr 1:58,258,642...58,354,544
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism, haplotype: :252A>G (human)
DNA:SNP:intron
RGD PMID:18409070 PMID:11841482 RGD:8548786, RGD:8548791 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Manf mesencephalic astrocyte-derived neurotrophic factor susceptibility ISO RGD PMID:8971156 RGD:1599219 NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO RGD PMID:10216485 RGD:2292627 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO RGD PMID:10216485 RGD:2292627 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO protein:increased protein:mammary gland RGD PMID:24233520 PMID:12618338 RGD:7495808, RGD:7495809 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 disease_progression ISO RGD PMID:17529967 PMID:18036273 PMID:17997823 RGD:2289657, RGD:2293356, RGD:2293357 NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ISO RGD PMID:10490831 RGD:151356925 NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO protein:increased expression, increased phosphorylation:breast RGD PMID:15928662 RGD:2314939 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk15 mitogen-activated protein kinase 15 disease_progression ISO protein:decreased expression:tumor (human) RGD PMID:12917323 RGD:2304230 NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645
JBrowse link
G Mapt microtubule-associated protein tau disease_progression ISO RGD PMID:18668363 RGD:8158093 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Malignant breast neoplasm ClinVar PMID:9302268 PMID:9665397 PMID:10631149 PMID:12876664 PMID:15994880 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Mcph1 microcephalin 1 severity ISO DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human) RGD PMID:23296058 RGD:9589038 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP protein:increased expression:breast tumor (rat) RGD PMID:15844214 RGD:2293626 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase susceptibility
severity
ISO DNA:polymorphisms:cds:p.L84F, p.I143V (human)
protein:decreased expression:tumor (human)
RGD PMID:16014702 PMID:15741301 RGD:2317675, RGD:2317691 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir152 microRNA 152 ISO miRNA:increased expression:plasma RGD PMID:26958084 RGD:21066332 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression:thoracic lymph node RGD PMID:32157513 RGD:152025189 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir221 microRNA 221 IEP RNA:increased expression:serum, thoracic lymph node,breast RGD PMID:32157513 RGD:152025189 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 IEP RNA:increased expression:breast RGD PMID:32157513 RGD:152025189 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir429 microRNA 429 IEP RNA:increased expression:serum, thoracic lymph node, breast RGD PMID:32157513 RGD:152025189 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:22004841 PMID:21880954 RGD:6483516, RGD:6483528 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:9506527 PMID:9536098 PMID:9718327 PMID:10446963 PMID:10713887 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr 6:104,881,483...104,917,686
Ensembl chr 6:104,881,483...104,917,728
JBrowse link
G Mmp1 matrix metallopeptidase 1 susceptibility
disease_progression
ISO DNA:insertion:promoter:g.-1607insG (human)
protein:decreased expression:plasma
protein:increased expression:breast, stromal cell (human)
RGD PMID:12473595 PMID:18366705 PMID:21835023 RGD:7207138, RGD:2298552, RGD:7207143 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17058024 RGD:8693321 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp8 matrix metallopeptidase 8 disease_progression ISO RGD PMID:17974962 PMID:18366705 RGD:2298553, RGD:2298552 NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Msh2 mutS homolog 2 susceptibility ISO DNA:polymorphism:cds:p.G322D
ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
RGD
PMID:8613431 PMID:9718327 PMID:10080150 PMID:10422993 PMID:10777691 More... RGD:2293512 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar PMID:10508506 PMID:10537275 PMID:11153917 PMID:11586295 PMID:11709755 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:8869094 RGD:7349378 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:16557584 PMID:21195604 PMID:25741868 PMID:26467025 PMID:26900293 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor severity ISO
ISS
IEP
DNA:amplification:exon (human)
OMIM:114480
protein:increased expression:mammary gland (rat)
MouseDO
RGD
PMID:10706127 PMID:22614519 RGD:7207838, RGD:7241002 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor exacerbates ISO RNA:increased expression:breast (human) RGD PMID:26596839 RGD:150524333 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Nbn nibrin susceptibility
disease_progression
ISO DNA:SNP
ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
protein:decreased expression:breast
DNA:missense mutation:exon:p.I171V
ClinVar
RGD
PMID:9590180 PMID:9620777 PMID:10398434 PMID:10839544 PMID:10852373 More... RGD:2298991, RGD:2298993, RGD:2298992 NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Ncoa3 nuclear receptor coactivator 3 IDA RGD PMID:20051871 RGD:5688283 NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO DNA:amplification:cds (human) RGD PMID:10567404 RGD:9590137 NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268
JBrowse link
G Ncor2 nuclear receptor co-repressor 2 disease_progression ISO RGD PMID:19904269 RGD:2314971 NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 treatment ISO DNA:SNPs, haplotype: :multiple RGD PMID:28797847 RGD:13506729 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 disease_progression ISO RGD PMID:8605098 RGD:2299064 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:insertion: : 3020_3021insC (human) RGD PMID:16267612 RGD:5131514 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos3 nitric oxide synthase 3 no_association
susceptibility
disease_progression
ISO DNA:polymorphism:exon:p.E298D (human)
DNA:polymorphism:promoter:-786T>C (human)
DNA:polymorphisms
RGD PMID:16807677 PMID:17063466 PMID:17891484 RGD:2292075, RGD:2292074, RGD:2292068 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO
IEP
ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in
mRNA, protein:decreased expression, decreased activity:liver (rat)
ClinVar
RGD
PMID:1737339 PMID:6933553 PMID:9000600 PMID:9230185 PMID:9328142 More... RGD:10769361, RGD:13440090 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO OMIM NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:31140425 PMID:31198978 RGD:28867230, RGD:28867231 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility
no_association
disease_progression
ISO DNA:SNP: :p.S326C (human)
DNA:SNPs:5' utr:c.-23A>G, c.-45G>A, c.-63G>C, (human)
DNA:SNPs:5' utr:c.-18G>T, c.-53G>C (human)
DNA:transition:intron:IVS1+22G>A (human)
protein:increased expression:breast
DNA:polymorphisms: :p.R229Q (human)
DNA:hypermethylation:promoter
DNA:missense mutation: :p.S326C (rs1052133) (human)
DNA:polymorphisms: :p.S326C, 7143A>G (human)
DNA:polymorphism: :11657A>G (human)
DNA:SNPs: :rs2072668, p.S326C (human)
RGD PMID:24606430 PMID:21153698 PMID:21153698 PMID:11536371 PMID:11536371 More... RGD:8657139, RGD:8657373, RGD:8657373, RGD:8657371, RGD:8657371, RGD:8657370, RGD:8657368, RGD:8657157, RGD:8657149, RGD:8657149, RGD:8657140 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO DNA:amplification RGD PMID:16705121 PMID:17486065 RGD:2299167, RGD:2299165 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast OMIM
ClinVar
PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA:increased expression:breast RGD PMID:8619189 RGD:2292155 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:breast RGD PMID:17390053 RGD:2292174 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:22270936 RGD:6483604 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Phb1 prohibitin 1 susceptibility
no_association
ISO DNA:polymorphism:3' utr:1703C>T
ClinVar Annotator: match by term: Breast cancer, susceptibility to
ClinVar
OMIM
RGD
PMID:8809404 PMID:11377649 PMID:11377649 PMID:14652295 RGD:2292405, RGD:2292402 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Plau plasminogen activator, urokinase treatment ISO
IDA
protein:increased expression:nipple, discharge (human) RGD PMID:22296682 PMID:19500378 RGD:7241082, RGD:7241801 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO RGD PMID:9703922 RGD:2299874 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
JBrowse link
G Plpp4 phospholipid phosphatase 4 ISO mRNA:increased expression:breast RGD PMID:16818692 RGD:2314524 NCBI chr 1:183,829,794...183,959,319
Ensembl chr 1:183,830,409...183,959,319
JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO mRNA:increased expression:breast RGD PMID:14639658 RGD:2315106 NCBI chr 3:162,011,884...162,060,137
Ensembl chr 3:162,012,751...162,060,454
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
RGD
PMID:10479499 PMID:10480359 PMID:15077197 PMID:16619239 PMID:17016615 More... RGD:2293505 NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:23376243 PMID:24033266 PMID:24123366 PMID:25637381 PMID:25741868 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:21701589 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27153395 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
G Polh DNA polymerase eta ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:14,778,355...14,813,210
Ensembl chr 9:14,777,888...14,812,723
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:polymorphism: :p.Q192R (human) RGD PMID:17428620 RGD:8661246 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO OMIM NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta disease_progression ISO DNA:SNP: :rs319217 (human) RGD PMID:20669227 RGD:5686296 NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:breast (human) RGD PMID:17624586 RGD:11535056 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO DNA:SNP: :rs10074991 (human) RGD PMID:22562547 RGD:6484541 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Psen2 presenilin 2 susceptibility ISO protein:amino acid substitution:R62H, R71W RGD PMID:16474849 RGD:2302525 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:breast
ClinVar Annotator: match by term: Malignant tumor of breast
associated with Hamartoma Syndrome, Multiple;DNA:insertions, deletion:c.137ins3, c.791insAT, c.915del12 (human)
associated with Hamartoma Syndrome, Multiple;DNA:mutations: :multiple
ClinVar
RGD
PMID:9619835 PMID:9788441 PMID:11108659 PMID:14623110 PMID:16598737 More... RGD:2292514, RGD:12832752, RGD:2292517 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO protein:increased expression:breast tumor cell, cytoplasm (human) RGD PMID:20847343 RGD:5688064 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:breast RGD PMID:9521170 RGD:2300213 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO DNA:deletion RGD PMID:16457699 RGD:2292558 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Ptpn13 protein tyrosine phosphatase, non-receptor type 13 susceptibility ISO DNA:SNP: :rs989902(human) RGD PMID:24338422 RGD:152599188 NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
JBrowse link
G Rad51 RAD51 recombinase susceptibility
resistance
ISO DNA:SNPs
DNA:polymorphism: :135G>C
DNA:deletion, loss of heterozygosity
mRNA:increased expression:breast
DNA:repeat
OMIM
RGD
PMID:16624550 PMID:17301259 PMID:17180310 PMID:17942895 PMID:18429825 More... RGD:2292637, RGD:2298722, RGD:2292636, RGD:2292635, RGD:2292632, RGD:2292634 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar PMID:9536098 PMID:17576681 PMID:18203022 PMID:20400963 PMID:20400964 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:10749867 PMID:14704354 PMID:15170666 PMID:16717288 PMID:18058226 More... NCBI chr10:67,805,720...67,824,452
Ensembl chr10:67,740,712...67,824,434
JBrowse link
G Rad54l RAD54 like ISO OMIM NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
JBrowse link
G Rassf1 Ras association domain family member 1 susceptibility ISO DNA:hypermethylation
DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast
RGD PMID:18483325 PMID:18425370 RGD:2299868, RGD:2299869 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rb1cc1 RB1-inducible coiled-coil 1 ISO OMIM
RGD
PMID:12068296 RGD:1599411 NCBI chr 5:13,161,648...13,225,560
Ensembl chr 5:13,161,648...13,225,560
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO RGD PMID:10713699 RGD:2300275 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit ISO protein:increased expression:breast
protein:decreased localization:T cell, nucleus
RGD PMID:21640702 PMID:9724088 RGD:7777150, RGD:2298697 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor severity ISO mRNA:increased expression:breast (human) RGD PMID:11533059 RGD:1304529 NCBI chr 4:169,981,634...170,089,777
Ensembl chr 4:169,982,279...170,089,715
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:7647787 PMID:7881414 PMID:9727738 PMID:9760196 PMID:10646792 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Rhoa ras homolog family member A disease_progression
severity
ISO protein:increased expression:breast RGD PMID:18575772 PMID:12237774 RGD:2298866, RGD:2298874 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rhob ras homolog family member B severity ISO protein:increased expression:breast RGD PMID:12237774 RGD:2298874 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
JBrowse link
G Rhoc ras homolog family member C severity ISO protein:increased expression:breast RGD PMID:12237774 RGD:2298874 NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306
JBrowse link
G Rnasel ribonuclease L no_association ISO RGD PMID:15330212 RGD:2291997 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
JBrowse link
G Rnf20 ring finger protein 20 ISO DNA:hypermethylation:promoter (human) RGD PMID:18832071 RGD:9831404 NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:21245432 RGD:5147786 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO RGD PMID:11349219 PMID:16799707 RGD:2314699, RGD:2306231 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA, protein:hypermethylation, altered localization:promoter RGD PMID:16818622 RGD:2302554 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:14985401 PMID:16322339 PMID:16912137 PMID:17102082 PMID:17102083 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:23175444 PMID:24033266 PMID:24466223 PMID:25741868 PMID:26467025 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:breast, tumor (human) RGD PMID:15448007 RGD:8547748 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 resistance ISO RGD PMID:17896178 RGD:2300321 NCBI chr10:45,468,698...45,497,820
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Six1 SIX homeobox 1 severity ISO mRNA:increased expression:breast epithelium (human) RGD PMID:9770533 RGD:11561960 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO protein:increased expression:breast RGD PMID:19350629 RGD:2315035 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO OMIM NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISS
ISO
OMIM:114480
ClinVar Annotator: match by term: Malignant tumor of breast
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Sncg synuclein, gamma disease_progression ISO protein:increased expression:breast RGD PMID:16821081 RGD:6478795 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Snw1 SNW domain containing 1 susceptibility ISO DNA:snp:intron: T>A (human) (rs1477261) RGD PMID:19377877 RGD:2683526 NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:15883815 RGD:1581240 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox2 SRY-box transcription factor 2 treatment
disease_progression
ISO RGD PMID:22561374 PMID:21822303 PMID:22832207 RGD:8661656, RGD:8661663, RGD:8661657 NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 severity ISO mRNA:decreased expression:breast (human) RGD PMID:14734471 RGD:1581315 NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
JBrowse link
G Srsf5 serine and arginine rich splicing factor 5 severity ISO mRNA:increased expression:breast (human) RGD PMID:17651715 RGD:11039450 NCBI chr 6:100,605,165...100,610,192
Ensembl chr 6:100,605,456...100,610,177
JBrowse link
G Stat1 signal transducer and activator of transcription 1 disease_progression ISO
ISS
protein:increased expression:breast
OMIM:114480
MouseDO
RGD
PMID:17868458 RGD:2291892 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 susceptibility
treatment
disease_progression
ISO DNA:snp RGD PMID:17639043 PMID:15374974 PMID:22374428 PMID:21740845 RGD:2291912, RGD:8694291, RGD:8694288, RGD:8694286 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:9536098 PMID:10429655 PMID:12533684 PMID:15800014 PMID:16287113 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO DNA:SNP:exon:p.R213H (human) RGD PMID:16175316 RGD:1581438 NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
JBrowse link
G Sult1e1 sulfotransferase family 1E member 1 susceptibility ISO DNA:SNP:promoter:-64G>A
DNA:SNP:intron, 3' utr:IVS4-1653T>C, *959G>A
RGD PMID:17372239 PMID:15894657 RGD:2302563, RGD:1581439 NCBI chr14:20,422,324...20,439,562
Ensembl chr14:20,422,324...20,439,275
JBrowse link
G Tcf7l2 transcription factor 7 like 2 susceptibility ISO DNA:SNP: :rs7003146(human) RGD PMID:24338422 RGD:152599188 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
JBrowse link
G Terc telomerase RNA component ISO RNA:increased expression:serum RGD PMID:11051224 RGD:2291973 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Terf1 telomeric repeat binding factor 1 ISO mRNA:decreased expression:breast tumor (human) RGD PMID:18720522 RGD:2317222 NCBI chr 5:3,443,103...3,472,377
Ensembl chr 5:3,443,106...3,472,340
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) RGD PMID:30713804 RGD:150429690 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
G Tfrc transferrin receptor severity ISO protein:increased expression:breast
mRNA:increased expression:breast
RGD PMID:14965443 PMID:11299801 RGD:2292018, RGD:2292021 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Tgfb1 transforming growth factor, beta 1 no_association
susceptibility
severity
disease_progression
treatment
ISO protein:increased expression:plasma
DNA:polymorphism: :29T>C (human)
DNA:polymorphism: :p.L10P (human)
DNA:SNP:promoter:-509 C>T (human)
DNA:SNP: :rs1982073 (human)
RGD PMID:7543740 PMID:20157775 PMID:17848193 PMID:20232138 PMID:20640597 More... RGD:7394794, RGD:7394854, RGD:7394853, RGD:7394850, RGD:7394846, RGD:7394832, RGD:7394824 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thra thyroid hormone receptor alpha ISO RGD PMID:12082618 RGD:2315096 NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
JBrowse link
G Thrb thyroid hormone receptor beta IDA
ISO
RGD PMID:20082849 PMID:12082618 RGD:2315977, RGD:2315096 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 disease_progression ISO mRNA, protein:increased expression:breast
protein:increased expression:serum
RGD PMID:17114213 PMID:18172859 PMID:17478562 RGD:2290348, RGD:2290343, RGD:2290345 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 disease_progression ISO RGD PMID:16256342 RGD:2290416 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:18669893 PMID:25741868 PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tk1 thymidine kinase 1 ISO protein:increased expression:serum (human) RGD PMID:10883887 RGD:2317242 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:deletion:promotor:-196_-174del(human) RGD PMID:22560646 RGD:7794753 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :3725G>C(human)
DNA:polymorphism:exon:p.N299G(human)
DNA:SNP: :c.896A>G(human)
RGD PMID:23510418 PMID:22560646 PMID:19810822 RGD:7777160, RGD:7794753, RGD:7794746 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:increased expression:breast, epithelial cell (human) RGD PMID:18922969 RGD:7246913 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor no_association
susceptibility
ISO protein:increased expression:serum
DNA:SNPs:promoter:multiple
DNA:polymorphism, haplotype:promoter:-308G>A (human)
DNA:SNPs: :multiple
DNA:SNP: :rs361525 (human)
RGD PMID:19967414 PMID:11841482 PMID:18409070 PMID:17216494 PMID:17216494 RGD:2315111, RGD:8548791, RGD:8548786, RGD:8548779, RGD:8548779 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ameliorates ISO associated with Neoplasm Metastasis; human cells in mouse model RGD PMID:28892081 RGD:151347436 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:missense mutation: :p.R72P (human)
OMIM
ClinVar
RGD
PMID:1394133 PMID:1537617 PMID:1562462 PMID:1565144 PMID:1673792 More... RGD:14995502 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp73 tumor protein p73 disease_progression
no_association
ISO DNA, mRNA:loss of heterozygosity, decreased expression:breast
DNA:deletion:intron:IVS1-489_-417del (human)
DNA:polymorphism
DNA:mutations
RGD PMID:11103943 PMID:14732927 PMID:16950799 PMID:10634515 PMID:11139314 RGD:2291831, RGD:151347588, RGD:2290584, RGD:2291835, RGD:2291830 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Tsc1 TSC complex subunit 1 disease_progression ISO mRNA:decreased expression:breast
ClinVar Annotator: match by term: Malignant tumor of breast
ClinVar
RGD
PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10353610 More... RGD:11568707 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:15951164 RGD:11568707 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Tsg101 tumor susceptibility 101 disease_progression
severity
ISO DNA:deletion: :154_1054del
protein:increased expression:breast
mRNA:alternative forms:breast
RGD PMID:10930114 PMID:17369844 PMID:10618725 RGD:2291848, RGD:2291847, RGD:2291849 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:19240155 PMID:19820021 PMID:22049173 PMID:25741868 PMID:27060741 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
G Tut4 terminal uridylyl transferase 4 severity ISO in conjunction with E2f1 expression;mRNA:increased expression:breast (human RGD PMID:21453498 RGD:11530014 NCBI chr 5:123,201,723...123,306,582
Ensembl chr 5:123,203,003...123,306,465
JBrowse link
G Twist1 twist family bHLH transcription factor 1 disease_progression ISO RGD PMID:27524420 RGD:151665821 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 exacerbates ISO human gene in a mouse cell line and mouse model RGD PMID:28330927 RGD:151665194 NCBI chr 7:69,116,758...69,224,490
Ensembl chr 7:69,116,761...69,224,903
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO RGD PMID:16637266 RGD:2301047 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO protein:increased activity:tumor:in tissue explant cultures of breast cancers and corresponding normal breast tissue (human) RGD PMID:2276414 RGD:2301374 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
G Vdr vitamin D receptor no_association
disease_progression
onset
ISO DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)
DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human)
mRNA:increased expression:breast
DNA:SNPs: :rs1544410 (human)
DNA:SNP, repeat: :rs1544410 (human)
DNA:repeat, SNP, haplotype:rs7975232 (human)
DNA:SNP: :rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410 (human)
DNA:hypermethylation:promoter
DNA:polymorphisms, haplotype: :multiple
RGD PMID:23554871 PMID:23300018 PMID:19331145 PMID:19124512 PMID:15328186 More... RGD:8157626, RGD:8158069, RGD:8158065, RGD:8158060, RGD:8158058, RGD:8158055, RGD:8158054, RGD:8158054, RGD:8157636, RGD:8157634, RGD:8157631, RGD:8157626 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO DNA:hypermethylation:promoter RGD PMID:16501252 RGD:2291871 NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
JBrowse link
G Wnt1 Wnt family member 1 ISS OMIM:114480 MouseDO NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
JBrowse link
G Wnt2 Wnt family member 2 ISO mRNA:increased expression:breast RGD PMID:15736421 RGD:2291874 NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
JBrowse link
G Wnt7b Wnt family member 7B ISO RGD PMID:15492823 RGD:2298699 NCBI chr 7:116,634,817...116,679,089
Ensembl chr 7:116,634,814...116,679,581
JBrowse link
G Wnt9a Wnt family member 9A ISO RGD PMID:11713592 RGD:2299944 NCBI chr10:44,094,140...44,121,134
Ensembl chr10:44,094,140...44,121,133
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 no_association ISO protein:altered localization:nucleus,cytoplasm:
ClinVar Annotator: match by term: Malignant tumor of breast
DNA:SNP: : rs2287499(human)
ClinVar
RGD
PMID:26460974 PMID:25134915 RGD:11251665, RGD:21081531 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Malignant tumor of breast
DNA:polymorphism: :p.L1074F (human)
ClinVar
RGD
PMID:10069711 PMID:10220139 PMID:16786514 PMID:24728327 PMID:25741868 More... RGD:10042982, RGD:10042983 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
G Wt1 WT1 transcription factor disease_progression ISO RGD PMID:19407365 RGD:2315543 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO protein:increased expression:breast RGD PMID:19563669 RGD:2315848 NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
G Xpo5 exportin 5 susceptibility ISO DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human) RGD PMID:21552306 RGD:11041726 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to OMIM
ClinVar
PMID:12023982 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
JBrowse link
G Zfhx3 zinc finger homeobox 3 exacerbates ISO mRNA:decreased expression:breast (human) RGD PMID:33217982 RGD:151361167 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link
Breast Cancer, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:28492532 NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:16551709 PMID:17085682 PMID:21876083 PMID:24713400 PMID:24763289 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:20301519 PMID:28492532 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:28492532 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast ClinVar PMID:1632451 PMID:2166257 PMID:2557216 PMID:2677459 PMID:3338800 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437