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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:thoracic disease
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Accession:DOID:0060118 term browser browse the term
Definition:A disease of anatomical entity that is located_in the thoracic cavity. (DO)
Synonyms:exact_synonym: thoracic diseases
 primary_id: MESH:D013896
For additional species annotation, visit the Alliance of Genome Resources.



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thoracic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287
JBrowse link
G IFT80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148
JBrowse link
G ILK integrin linked kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23045294 NCBI chr 9:3,145,647...3,152,097
Ensembl chr 9:3,145,608...3,159,858
JBrowse link
17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Pseudohermaphroditism male with gynecomastia ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency OMIM
ClinVar
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
JBrowse link
adenosquamous lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin ISO protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
JBrowse link
Animal Mammary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL1 acyl-CoA synthetase long chain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr15:45,866,858...45,936,327
Ensembl chr15:45,866,857...45,963,729
JBrowse link
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
JBrowse link
G ACTN4 actinin alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,919...47,565,998
JBrowse link
G ADCY5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
JBrowse link
G ALCAM activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr13:153,794,991...153,998,241
Ensembl chr13:153,794,993...153,998,208
JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 PMID:22248470 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
JBrowse link
G ANXA2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059
JBrowse link
G ANXA4 annexin A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 3:72,623,311...72,654,591
Ensembl chr 3:72,622,358...72,694,212
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111214 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746
JBrowse link
G AREG amphiregulin ISO mRNA:increased expression:mammary gland RGD PMID:18421211 RGD:2292665 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
JBrowse link
G ATP5IF1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 6:85,307,242...85,309,211
Ensembl chr 6:85,307,189...85,309,215
JBrowse link
G BASP1 brain abundant membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr16:6,384,322...6,440,507 JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203372 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
JBrowse link
G CAPZB capping actin protein of muscle Z-line subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 6:77,780,682...77,912,653
Ensembl chr 6:77,780,682...77,912,617
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:14522882 PMID:16316942 PMID:17173897 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:12606953 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19787232 RGD:6893387 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:15922965 RGD:8547789 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDC42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,123...80,089,233
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:14522882 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A onset ISO RGD PMID:11103935 RGD:8662404 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CDS1 CDP-diacylglycerol synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 8:133,959,250...134,041,258
Ensembl chr 8:133,959,247...134,041,258
JBrowse link
G CNN3 calponin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 4:122,504,450...122,528,351
Ensembl chr 4:122,504,433...122,528,348
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111
JBrowse link
G COMT catechol-O-methyltransferase ISO protein:increased expression:mammary gland, cytoplasm
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:6337293 PMID:18424824 RGD:2289734 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21489049 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G CSN2 casein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9879772 PMID:16316942 NCBI chr 8:66,914,231...66,922,636
Ensembl chr 8:66,915,923...66,922,636
JBrowse link
G CSN3 casein kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 8:67,099,131...67,109,112
Ensembl chr 8:67,099,131...67,106,987
JBrowse link
G DBI diazepam binding inhibitor, acyl-CoA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr15:24,895,575...24,900,710
Ensembl chr15:24,895,522...24,906,372
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
JBrowse link
G EEF1A1 eukaryotic translation elongation factor 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 1:92,421,235...92,425,053
Ensembl chr 1:92,421,230...92,425,044
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8603490 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:52,659,040...52,664,686 JBrowse link
G ENO1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 6:69,385,879...69,401,664
Ensembl chr 6:69,385,879...69,401,151
JBrowse link
G EPCAM epithelial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 3:93,169,800...93,185,221
Ensembl chr 3:93,168,852...93,185,653
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8603490 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15637090 PMID:17173897 PMID:34606849 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15637090 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
JBrowse link
G EZR ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742
JBrowse link
G F11R F11 receptor ISO RGD PMID:21695058 RGD:7488916 NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,018...89,449,599
JBrowse link
G FABP4 fatty acid binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 4:55,096,400...55,101,209
Ensembl chr 4:55,096,404...55,101,896
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:22407271 RGD:8554853 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 7:53,455,634...53,472,791
Ensembl chr 7:53,460,017...53,472,787
JBrowse link
G G0S2 G0/G1 switch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 9:133,287,065...133,288,066
Ensembl chr 9:133,287,325...133,287,742
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
JBrowse link
G GATM glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871
JBrowse link
G GDA guanine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 1:225,425,389...225,589,835
Ensembl chr 1:225,403,138...225,589,827
JBrowse link
G GNAI2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
JBrowse link
G GSS glutathione synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,298
JBrowse link
G H3-3B H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:5,632,326...5,634,977
Ensembl chr12:5,632,365...5,634,726
JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8185828 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ID3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,546...81,424,075
JBrowse link
G ID4 inhibitor of DNA binding 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633621 NCBI chr 7:15,281,535...15,284,895
Ensembl chr 7:15,281,757...15,282,839
JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA:increased expression:mammary gland RGD PMID:18421211 RGD:2292665 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism CTD PMID:12606953 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
JBrowse link
G INSIG1 insulin induced gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr18:2,885,494...2,898,758
Ensembl chr18:2,885,612...2,898,767
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:19888452 RGD:5684399 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G KITLG KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,340...124,557,958
JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402
JBrowse link
G KRT71 keratin 71 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 5:17,895,714...17,905,194
Ensembl chr 5:17,895,718...17,905,181
JBrowse link
G LGALS7 galectin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 6:47,588,983...47,604,520 JBrowse link
G LIN7A lin-7 homolog A, crumbs cell polarity complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 5:100,533,630...100,686,709
Ensembl chr 5:100,538,065...100,674,551
JBrowse link
G LOC100624785 tubulin beta-2A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 7:1,910,585...1,914,668
Ensembl chr 7:1,910,269...1,914,761
JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 3:41,482,353...41,483,564 JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LSR lipolysis stimulated lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 6:44,759,091...44,773,378
Ensembl chr 6:44,759,073...44,773,379
JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:17016428 RGD:7495832 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641
JBrowse link
G MDH2 malate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 3:10,120,121...10,132,705
Ensembl chr 3:10,120,083...10,132,752
JBrowse link
G MGP matrix Gla protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MIR100 microRNA mir-100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
JBrowse link
G MIR10A microRNA mir-10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
JBrowse link
G MIR10B microRNA mir-10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr15:81,951,644...81,951,723
Ensembl chr15:81,951,636...81,951,736
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR199A-1 microRNA mir-199a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880
JBrowse link
G MIR205 microRNA mir-205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24447120 NCBI chr 9:133,517,078...133,517,146
Ensembl chr 9:133,517,078...133,517,146
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:23714264 RGD:8547831 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MPZL1 myelin protein zero like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 4:83,235,712...83,309,620
Ensembl chr 4:83,235,714...83,316,405
JBrowse link
G MRC2 mannose receptor C type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:16,059,759...16,119,571
Ensembl chr12:16,059,768...16,119,571
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G NDN necdin, MAGE family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:21489049 NCBI chr 1:142,412,688...142,413,665
Ensembl chr 1:142,412,565...142,414,240
JBrowse link
G NOTCH4 notch receptor 4 ISO DNA, mRNA:mutation, alternative form RGD PMID:8030284 RGD:2299155 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462
G NTRK3 neurotrophic receptor tyrosine kinase 3 ameliorates ISO RGD PMID:20802235 RGD:150520014 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327
JBrowse link
G PADI4 peptidyl arginine deiminase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 6:75,935,909...75,966,275
Ensembl chr 6:75,935,889...75,966,293
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712
JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr14:34,523,901...34,530,238 JBrowse link
G PGAM1 phosphoglycerate mutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr14:108,822,782...108,832,818
Ensembl chr14:108,822,812...108,833,058
JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15637090 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12606953 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
JBrowse link
G PKM pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 7:60,971,807...61,032,780
Ensembl chr 7:60,975,667...61,004,316
Ensembl chr 7:60,975,667...61,004,316
JBrowse link
G PLK2 polo like kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr16:37,299,116...37,305,114
Ensembl chr16:37,299,119...37,305,114
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11137312 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6280079 PMID:16316942 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
JBrowse link
G PRLR prolactin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 PMID:17173897 NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140
JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 7:47,440,576...47,448,599
Ensembl chr 7:47,434,919...47,448,891
JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810
JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 2:77,551,562...77,563,153
Ensembl chr 2:77,551,562...77,563,134
JBrowse link
G PTGER1 prostaglandin E receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11751431 NCBI chr 2:64,796,944...64,800,199
Ensembl chr 2:64,797,216...64,800,458
JBrowse link
G PTN pleiotrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044
JBrowse link
G RAN RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr14:24,312,810...24,318,024
Ensembl chr14:24,311,577...24,317,789
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12606953 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
JBrowse link
G RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12606953 NCBI chr 2:89,525,948...89,794,103
Ensembl chr 2:89,528,111...89,790,719
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008439 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14522882 PMID:21364977 RGD:8547983 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458
JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G RCN1 reticulocalbin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 2:28,696,528...28,714,083
Ensembl chr 2:28,696,661...28,709,672
JBrowse link
G REL REL proto-oncogene, NF-kB subunit ISO DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter RGD PMID:12897145 RGD:2300264 NCBI chr 3:80,861,862...80,912,233
Ensembl chr 3:80,872,255...80,911,939
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO RGD PMID:12897145 RGD:2300264 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319
JBrowse link
G RPL3 ribosomal protein L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 5:8,922,697...8,929,768
Ensembl chr 5:8,922,665...8,929,767
JBrowse link
G RPL6 ribosomal protein L6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr14:39,302,447...39,309,239
Ensembl chr14:39,303,350...39,309,236
JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 2:151,430,047...151,433,951
Ensembl chr 2:151,430,049...151,433,856
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,525...96,099,684
JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602
JBrowse link
G S1PR1 sphingosine-1-phosphate receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 4:117,064,632...117,069,724
Ensembl chr 4:117,064,755...117,069,650
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr14:28,301,421...28,393,568
Ensembl chr14:28,301,294...28,393,568
JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr14:111,461,560...111,478,033
Ensembl chr14:111,461,569...111,478,020
JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr16:27,537,885...27,547,863
Ensembl chr16:27,537,885...27,631,130
JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602
JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
JBrowse link
G SLC25A10 solute carrier family 25 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr12:1,191,242...1,197,439
Ensembl chr12:1,189,903...1,197,301
JBrowse link
G SNCG synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,659...87,922,095
JBrowse link
G SNRPD3 small nuclear ribonucleoprotein D3 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr14:49,585,177...49,598,015 JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:decreased expression:mammary gland (rat) RGD PMID:17157473 RGD:8657018 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SOX9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 6:47,181,772...47,210,564
Ensembl chr 6:47,181,768...47,210,559
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:4,800,578...4,803,767
Ensembl chr12:4,800,624...4,801,675
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:15609129 PMID:16316942 PMID:17173897 PMID:20235097 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138
JBrowse link
G STMN1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 6:83,356,404...83,362,546
Ensembl chr 6:83,356,412...83,362,500
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:9879772 PMID:16316942 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8603490 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474
JBrowse link
G THRSP thyroid hormone responsive ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 9:12,479,913...12,484,323
Ensembl chr 9:12,479,907...12,488,557
JBrowse link
G TKT transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr13:35,348,921...35,377,518
Ensembl chr13:35,348,915...35,377,587
JBrowse link
G TLE4 TLE family member 4, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 1:232,355,959...232,504,766
Ensembl chr 1:232,355,959...232,504,763
JBrowse link
G TMEM37 transmembrane protein 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21489049 NCBI chr15:31,778,587...31,790,480 JBrowse link
G TP53I3 tumor protein p53 inducible protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21489049 NCBI chr 3:114,599,285...114,605,455
Ensembl chr 3:114,600,224...114,605,448
JBrowse link
G TPM3 tropomyosin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 PMID:16316942 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 4:22,905,627...23,162,862
Ensembl chr 4:22,905,637...23,159,546
JBrowse link
G TSC22D1 TSC22 domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr11:22,518,792...22,634,411
Ensembl chr11:22,518,795...22,634,407
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 3:40,556,556...40,586,382 JBrowse link
G UCP2 uncoupling protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
JBrowse link
G VAMP8 vesicle associated membrane protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16316942 NCBI chr 3:59,187,900...59,193,165
Ensembl chr 3:59,185,735...59,193,128
JBrowse link
G WNT1 Wnt family member 1 ISO mRNA:increased expression:tumors:insertion of MMTV into Wnt1 gene increases expression and decreases latency of tumorigenesis in WAP-TGFalpha mice RGD PMID:10918574 RGD:2298804 NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,786...15,014,998
JBrowse link
G WNT6 Wnt family member 6 ISO Adenomyoepithelioma; mRNA:increased expression:tumor:PLAG-1 transgenic mice RGD PMID:18649356 RGD:2298845 NCBI chr15:120,901,471...120,917,359
Ensembl chr15:120,901,376...120,917,486
JBrowse link
G XDH xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12376462 NCBI chr 4:35,975,513...36,009,909
Ensembl chr 4:35,975,508...36,009,887
JBrowse link
Aplasia or Hypoplasia of Breasts and/or Nipples 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRF protein tyrosine phosphatase receptor type F ISO ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 OMIM
ClinVar
NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,657,680...167,743,721
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO ClinVar Annotator: match by term: Gynecomastia, familial ClinVar PMID:16804045 PMID:28492532 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677
JBrowse link
G CYP19A2 cytochrome P450 19A2 ISO OMIM:139300 MouseDO NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome OMIM
ClinVar
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
asbestos-related lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM28 ADAM metallopeptidase domain 28 ISO associated with lung adenocarcinoma ;mRNA:increased expression:lung RGD PMID:20544843 RGD:153298907 NCBI chr14:8,375,169...8,438,622
Ensembl chr14:8,375,212...8,438,615
JBrowse link
G KIF5A kinesin family member 5A susceptibility ISO protein:increased expression:serum (human) RGD PMID:21231887 RGD:12793066 NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
JBrowse link
G RARB retinoic acid receptor beta ISO DNA:hypomethylation:lung RGD PMID:28722770 RGD:13503322 NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680
JBrowse link
bilateral breast cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bilateral breast carcinoma ClinVar PMID:19781682 PMID:25741868 PMID:26689913 PMID:26787654 PMID:28492532 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: bilateral breast cancer ClinVar PMID:16809487 PMID:16982779 PMID:24335900 PMID:24982914 PMID:25741868 More... NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
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 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
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 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
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...
G BRCA1 BRCA1 DNA repair associated treatment ISO RGD PMID:8589721 RGD:126925966 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
JBrowse link
G CAT catalase ISO RGD PMID:25050522 RGD:9226881 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCNE1 cyclin E1 ISO DNA:amplification RGD PMID:18089785 RGD:2289225 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,366
JBrowse link
G CCNG1 cyclin G1 ISO mRNA, protein:altered expression:mammary (mouse) RGD PMID:11146550 RGD:2315939 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO mRNA:increased expression:mammary epithelium (rat) RGD PMID:11097088 RGD:7829735 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15 RGD PMID:11466624 RGD:2289868 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G KSR1 kinase suppressor of ras 1 severity ISO RGD PMID:24909178 RGD:127229932 NCBI chr12:43,927,222...44,135,833
Ensembl chr12:43,985,732...44,135,833
JBrowse link
G MUC1 mucin 1, cell surface associated ISO mRNA,protein:increased expression:breast RGD PMID:7678777 RGD:2324855 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MXI1 MAX interactor 1, dimerization protein ISO RGD PMID:10849326 RGD:1298988 NCBI chr14:120,643,691...120,722,632
Ensembl chr14:120,643,830...120,724,099
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
JBrowse link
G RB1CC1 RB1 inducible coiled-coil 1 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:12068296 NCBI chr 4:77,593,204...77,649,551
Ensembl chr 4:77,594,324...77,649,548
JBrowse link
G SLC22A18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Breast adenocarcinoma ClinVar PMID:9520460 NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750
JBrowse link
G TNF tumor necrosis factor ISO human protein in a rat model RGD PMID:12536235 RGD:14995452 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Breast adenocarcinoma, somatic ClinVar PMID:1673792 PMID:1686725 PMID:7881428 PMID:8364550 PMID:10713666 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289
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 (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:insertion/deletion, haplotype RGD PMID:23828384 RGD:8548866 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ACSL3 acyl-CoA synthetase long chain family member 3 disease_progression ISO DNA:deletion
mRNA:increased expression:breast
RGD PMID:23512947 PMID:28977883 RGD:13831299 RGD:13831301 NCBI chr15:124,741,986...124,816,955
Ensembl chr15:124,765,854...124,816,960
JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 exacerbates ISO RGD PMID:19549921 RGD:153298911 NCBI chr14:8,375,169...8,438,622
Ensembl chr14:8,375,212...8,438,615
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing no_association ISO protein:decreased expression:serum
DNA:SNPs: :rs1501299, rs2241766 (human)
RGD PMID:16019138 PMID:17192291 PMID:18451143 PMID:19723917 RGD:8694415 RGD:8694417 RGD:8694425 RGD:8694447 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G ADIPOR1 adiponectin receptor 1 no_association ISO DNA:SNPs: :rs7539542 (human) RGD PMID:18451143 PMID:19723917 RGD:8694415 RGD:8694417 NCBI chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686
JBrowse link
G ADIPOR2 adiponectin receptor 2 no_association ISO RGD PMID:19723917 RGD:8694417 NCBI chr 5:68,755,789...68,807,247
Ensembl chr 5:68,755,811...68,807,235
JBrowse link
G ADM adrenomedullin ISO RGD PMID:16841081 RGD:2325318 NCBI chr 2:49,229,223...49,231,521
Ensembl chr 2:49,229,223...49,231,866
JBrowse link
G ADSL adenylosuccinate lyase severity ISO protein:increased activity:tumor (human)
protein:increased activity:tumor (rat)
RGD PMID:2937404 PMID:3690833 RGD:1598760 RGD:1598766 NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603
JBrowse link
G AGR2 anterior gradient 2, protein disulphide isomerase family member disease_progression ISO RGD PMID:16598187 RGD:2325661 NCBI chr 9:86,042,070...86,053,893
Ensembl chr 9:86,041,369...86,053,857
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:8548866 RGD:8548901 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO DNA:polymorphism, haplotype: :1166A>C (human) RGD PMID:23828384 RGD:8548866 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G AIF1L allograft inflammatory factor 1 like severity ISO RGD PMID:30233209 RGD:13842475 NCBI chr 1:271,075,376...271,099,984
Ensembl chr 1:271,072,734...271,102,803
JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 ISO mRNA:increased expression:breast RGD PMID:25526449 RGD:27226689 NCBI chr 6:165,811,245...165,825,168
Ensembl chr 6:165,811,247...165,824,896
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Breast cancer, somatic
ClinVar Annotator: match by term: Malignant tumor of breast
OMIM
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...
G ALOX12 arachidonate 12-lipoxygenase, 12S type disease_progression ISO mRNA:increased expression:breast RGD PMID:19282568 RGD:2315607 NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903
JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO DNA:polymorphism:g.-4800A>G (human) RGD PMID:18843019 RGD:2313902 NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
JBrowse link
G AMH anti-Mullerian hormone onset ISO RGD PMID:19820206 RGD:2315637 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 disease_progression ISO mRNA:increased expression:breast: RGD PMID:17016666 RGD:9684946 NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379
JBrowse link
G ANXA7 annexin A7 disease_progression ISO protein:increased expression:breast RGD PMID:15073110 RGD:2292655 NCBI chr14:76,205,238...76,234,646
Ensembl chr14:76,205,232...76,234,631
JBrowse link
G AOPEP aminopeptidase O (putative) 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:7689011 PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:8940262 PMID:9288102 PMID:9585599 PMID:9724771 PMID:9731522 More... NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 susceptibility ISO DNA:polymorphism: :p.D148E (human) RGD PMID:18701435 RGD:2315661 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G APOC3 apolipoprotein C3 disease_progression ISO RGD PMID:28715644 RGD:153350084 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
JBrowse link
G APOE apolipoprotein E no_association
susceptibility
ISO DNA:polymprphism:exon:
DNA:polymorphism:exon:
RGD PMID:15830139 PMID:16752225 RGD:7495789 RGD:7771592 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G AREG amphiregulin ISO RGD PMID:16438846 RGD:2292658 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cells in mouse model RGD PMID:26069190 RGD:11072938 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G ASF1B anti-silencing function 1B histone chaperone disease_progression ISO RGD PMID:21179005 RGD:9586017 NCBI chr 2:65,063,186...65,072,681
Ensembl chr 2:65,062,766...65,072,679
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, lobular | 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 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
OMIM
ClinVar
RGD
PMID:1160401 PMID:1739330 PMID:2166257 PMID:2677459 PMID:6504056 More... RGD:1643350 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,989
JBrowse link
G AXIN2 axin 2 ISO ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:21541676 PMID:25236910 PMID:26467025 PMID:28492532 PMID:29114927 More... NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
JBrowse link
G BAD BCL2 associated agonist of cell death disease_progression ISO RGD PMID:17004114 RGD:2292674 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
JBrowse link
G BAG1 BAG cochaperone 1 disease_progression ISO protein:increased expression:breast RGD PMID:11181661 RGD:2293888 NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,338...33,240,724
JBrowse link
G BARD1 BRCA1 associated RING domain 1 severity
no_association
susceptibility
ISO 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
protein:increased expression, altered localization:breast
DNA:polymorphisms: :p.V507M, p.C557S (human)
DNA:polymorphism: :p.C557S (human)
DNA:polymorphism: :p.V507M (human)
DNA:polymorphisms: :multiple (human)
DNA:polymorphisms: :p.P24S, p.R378S (human)
OMIM
ClinVar
RGD
PMID:9425226 PMID:9536098 PMID:11807980 PMID:14550946 PMID:15342711 More... RGD:2315713 RGD:2315714 RGD:2315715 RGD:2315716 RGD:2315717 RGD:2315727 RGD:2315729 NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851
JBrowse link
G BAX BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17626754 RGD:1643353 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
JBrowse link
G BCAR1 BCAR1 scaffold protein, Cas family member severity ISO protein:increased expression:breast, cytosol (human) RGD PMID:15448007 RGD:8547748 NCBI chr 6:12,369,332...12,404,822
Ensembl chr 6:12,367,758...12,404,818
JBrowse link
G BCAS2 BCAS2 pre-mRNA processing factor ISO DNA:amplification:cds (human) RGD PMID:12169396 RGD:9850147 NCBI chr 4:105,992,558...106,003,160
Ensembl chr 4:105,992,452...106,003,150
JBrowse link
G BCAS3 BCAS3 microtubule associated cell migration factor ISO RGD PMID:16855396 RGD:2317828 NCBI chr12:36,894,727...37,475,221
Ensembl chr12:36,894,401...37,475,151
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:16850344 RGD:1643481 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:33292020 RGD:155641236 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO mRNA:decreased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO mRNA:increased expression:breast RGD PMID:17004110 RGD:1643590 NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986
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 chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790
JBrowse link
G BRCA1 BRCA1 DNA repair associated susceptibility ISO mRNA:allelic imbalance:lymphocyte
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, 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
DNA:mutation
RGD
ClinVar
PMID:1157798 PMID:1673748 PMID:2504116 PMID:2505045 PMID:7493024 More... RGD:1599497 RGD:2293153 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668
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, 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 Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | 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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 susceptibility
onset
ISO ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast
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
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
DNA:mutations:multiple (human)
DNA:snp:3' utr:C>A (rs7220740) (human)
DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human)
DNA:missense mutations:cds:p.P47A, p.M299I (human)
OMIM
ClinVar
RGD
PMID:2455662 PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 More... RGD:11252100 RGD:11252107 RGD:11252109 RGD:1600525 NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,205...36,635,973
JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO protein:decreased expression:breast, nucleus RGD PMID:16849553 RGD:2289068 NCBI chr 9:64,033,853...64,037,795
Ensembl chr 9:64,031,832...64,035,837
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog 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:1160401 PMID:2166257 PMID:6504056 PMID:7792600 PMID:8659541 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Breast cancer, invasive ductal ClinVar PMID:28492532 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430
JBrowse link
G CASP3 caspase 3 severity ISO protein:decreased expression:breast RGD PMID:18227733 PMID:23979166 RGD:13209143 RGD:2293092 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
JBrowse link
G CASP7 caspase 7 disease_progression ISO RGD PMID:23979166 RGD:13209143 NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365
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 chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CASP9 caspase 9 ISO mRNA:decreased expression:breast RGD PMID:17011986 RGD:2290492 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252
JBrowse link
G CAV1 caveolin 1 disease_progression
no_association
ISO OMIM:114480
DNA, protein:hypermethylation, decreased expression:promoter, breast
DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human)
DNA:SNPs: :multiple
RGD
MouseDO
PMID:15375584 PMID:21585620 PMID:21965771 RGD:2289105 RGD:8661766 RGD:8661769 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CBX7 chromobox 7 severity ISO human gene in a mouse model RGD PMID:25351982 RGD:11352704 NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634
JBrowse link
G CCNB1 cyclin B1 disease_progression ISO RGD PMID:19223507 PMID:19957331 RGD:2315934 RGD:2315937 NCBI chr16:47,338,239...47,348,385
Ensembl chr16:47,338,110...47,348,377
JBrowse link
G CCND2 cyclin D2 disease_progression ISO RGD PMID:30308939 RGD:151665105 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G CCNE1 cyclin E1 disease_progression ISO RGD PMID:17483245 RGD:2289231 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,366
JBrowse link
G CCNG1 cyclin G1 treatment ISO RGD PMID:23791885 RGD:151356928 NCBI chr16:60,349,255...60,356,737
Ensembl chr16:60,349,258...60,356,738
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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:21624121 RGD:7483628 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CD55 CD55 molecule (Cromer blood group) disease_progression ISO RGD PMID:15102687 PMID:18676748 RGD:2326166 RGD:2326170 NCBI chr 9:67,933,069...67,960,380 JBrowse link
G CDC25C cell division cycle 25C ISO protein:increased expression:breast RGD PMID:15567944 RGD:4105448 NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425
JBrowse link
G CDC73 cell division cycle 73 exacerbates ISO mRNA:increased expression:breast (human) RGD PMID:29221126 RGD:150539444 NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
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
ClinVar Annotator: match by term: Breast cancer, lobular | 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:2449335 PMID:8075649 PMID:8557030 PMID:9744472 PMID:11196175 More... NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CDH13 cadherin 13 ISO protein:decreased expression:breast duct:
DNA:hypermethylation
RGD PMID:8673923 PMID:17764565 RGD:2293542 RGD:734735 NCBI chr 6:4,809,752...5,832,188
Ensembl chr 6:4,808,255...5,832,415
JBrowse link
G CDK1 cyclin dependent kinase 1 susceptibility
disease_progression
ISO DNA:SNP:intron:rs16941635 (human) RGD PMID:17956886 PMID:19377877 RGD:2683526 RGD:2708463 NCBI chr14:64,233,945...64,255,290
Ensembl chr14:64,233,987...64,372,197
JBrowse link
G CDK13 cyclin dependent kinase 13 severity ISO RGD PMID:33292020 RGD:155641236 NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
JBrowse link
G CDK2 cyclin dependent kinase 2 disease_progression ISO RGD PMID:18236071 RGD:2293557 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,764...21,372,168
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO RGD PMID:16440198 RGD:2293576 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:increased localization:cytoplasm
DNA:SNP
RGD PMID:12244302 PMID:18030569 PMID:18174243 RGD:2289652 RGD:2293594 RGD:734746 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
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 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
JBrowse link
G CFB complement factor B treatment ISO RGD PMID:15274022 RGD:7411730 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
JBrowse link
G CGA glycoprotein hormones, alpha polypeptide disease_progression ISO RGD PMID:11687975 RGD:2293635 NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:breast (human) RGD PMID:28486105 RGD:153323299 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173
JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO 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, 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, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast
DNA:missense mutations:p.I157T and p.S428F
DNA:deletion: ;1100delC
DNA:loss of heterozygosity
OMIM
ClinVar
RGD
PMID:2936834 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 More... RGD:1599601 RGD:2289703 RGD:2289706 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:12889595 RGD:4892603 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CLU clusterin disease_progression ISO DNA:snp:promoter:g.27611345C>G (rs9331888) (human) RGD PMID:22037783 RGD:8963167 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G COMT catechol-O-methyltransferase susceptibility
no_association
disease_progression
ISO DNA:polymorphism: :p.V158M
mRNA:increased expression:breast
RGD PMID:15285606 PMID:17429315 PMID:17507616 PMID:17562079 RGD:2289710 RGD:2289712 RGD:2289715 RGD:2289721 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:nipple aspirate fluid RGD PMID:21139810 RGD:9491787 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:18172291 RGD:2293639 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
JBrowse link
G CSF1R colony stimulating factor 1 receptor disease_progression
treatment
ISO RGD PMID:14734466 PMID:25385645 RGD:150524304 RGD:2293711 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO RGD PMID:11827167 RGD:727632 NCBI chr17:34,692,960...34,748,067 JBrowse link
G CTCF CCCTC-binding factor severity ISO protein:alternative form, increased expression:breast tumor (human) RGD PMID:19737964 RGD:151356756 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SPNs:multiple:
protein:increased expression:serum:
RGD PMID:17825114 PMID:20482250 RGD:7411684 RGD:7421502 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:breast carcinoma, cytosol (human) RGD PMID:9508185 RGD:2315523 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
JBrowse link
G CTSD cathepsin D ISO human gene in a mouse model RGD PMID:12140763 RGD:1547890 NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
JBrowse link
G CYB5R3 cytochrome b5 reductase 3 susceptibility ISO DNA:polymporhism:(rs8190370)(human) RGD PMID:25225034 RGD:11040537 NCBI chr 5:6,146,230...6,170,209
Ensembl chr 5:6,146,276...6,170,202
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to ClinVar PMID:1740503 PMID:16121340 PMID:17192295 PMID:20197673 PMID:22309630 More... NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP19A3 cytochrome P450 19A3 treatment ISO DNA:repeat::(TTTA)10 (human)
DNA:SNP:cds:rs700518 (human)
RGD PMID:7053713 PMID:16875543 PMID:23643682 RGD:2301046 RGD:7257707 RGD:7257716 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 no_association ISO DNA:SNP:3' utr:6235T>C (human)
DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human)
DNA:SNP: :p.I462V (rs1048943) (human)
DNA:SNP::rs4646903 (human)
DNA:polymorphisms: :multiple
RGD PMID:9426059 PMID:12496044 PMID:17603290 PMID:18497059 PMID:21418988 RGD:2301045 RGD:8552792 RGD:8552794 RGD:8552799 RGD:8552810 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005) RGD PMID:18497059 RGD:2301045 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility ISO DNA:snp:cds:p.A119S (human) RGD PMID:10739169 RGD:7829734 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:haplotype: : RGD PMID:26799162 RGD:124713411 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
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 chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,845...23,391,584
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:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 PMID:32714280 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
JBrowse link
G DLL4 delta like canonical Notch ligand 4 disease_progression ISO RGD PMID:20167860 RGD:155641260 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
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:7495850 RGD:7495851 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO protein:increased expression:mammary gland RGD PMID:12618338 RGD:7495809 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO DNA:amplification RGD PMID:12160478 RGD:2289857 NCBI chr 4:27,986,270...28,013,970
Ensembl chr 4:27,986,866...28,013,945
JBrowse link
G EGFR epidermal growth factor receptor ISO mRNA:increased expression:breast RGD PMID:17465220 RGD:2289949 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EGR1 early growth response 1 ISO protein:decreased expression:tumor (human)
protein:decreased expression:tumor (rat)
RGD PMID:9212230 RGD:5131943 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H ISO DNA:amplification RGD PMID:10362802 RGD:2289902 NCBI chr 4:21,955,026...22,053,683
Ensembl chr 4:21,954,874...22,058,699
JBrowse link
G ENG endoglin treatment ISO human tumor in mouse model RGD PMID:11691802 RGD:7248784 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
JBrowse link
G EPO erythropoietin ISO protein:increased expression:breast: RGD PMID:12118093 RGD:11041669 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO protein:increased expression:breast: RGD PMID:12118093 RGD:11041669 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO OMIM:114480 MouseDO NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553
JBrowse link
G ESPL1 extra spindle pole bodies like 1, separase ISO OMIM:114480 MouseDO NCBI chr 5:18,486,969...18,509,913
Ensembl chr 5:18,487,052...18,509,913
JBrowse link
G ESR1 estrogen receptor 1 no_association
susceptibility
treatment
disease_progression
ISO DNA:SNP: :908A>G (p.K303R) (human)
DNA:SNP:exon:2014G>A (human)
DNA:amplification
DNA:SNPs: :rs2234693, rs9340799 (human)
DNA:SNPs, haplotypes:promoter, exon
OMIM
RGD
PMID:15034868 PMID:15604249 PMID:19011961 PMID:19320640 PMID:19636371 More... RGD:8552978 RGD:8552979 RGD:8552980 RGD:8552981 RGD:8552982 RGD:8553053 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
no_association
treatment
ISO DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human)
DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human)
DNA:snps:multiple (human)
associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human)
DNA:silent mutation:exon:g.1176C>G (rs1256054) (human)
DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human)
DNA:snp:promoter:g.-13950C>T (rs2987983) (human)
DNA:repeat:intron:IVS5(CA)9-31 (human)
DNA:snps, haplotype:multiple (human)
DNA:repeat:3' utr:(CA)10-27 (human)
RGD PMID:14633679 PMID:15604249 PMID:16261413 PMID:16808847 PMID:17904846 More... RGD:7364946 RGD:8552977 RGD:8552978 RGD:8693347 RGD:8693380 RGD:8693382 RGD:8694090 RGD:8694096 RGD:8694103 RGD:8694110 RGD:8694116 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:28492532 NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540
JBrowse link
G F10 coagulation factor X ISO DNA:SNP: :rs3093261 (human) RGD PMID:25407022 RGD:10449101 NCBI chr11:78,521,760...78,538,256
Ensembl chr11:78,521,598...78,538,258
JBrowse link
G F11R F11 receptor disease_progression ISO RGD PMID:19533747 RGD:7488915 NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,018...89,449,599
JBrowse link
G F5 coagulation factor V no_association ISO DNA:SNPs: :rs6025 (human)
DNA:SNPs: :multiple
RGD PMID:25407022 RGD:10449101 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
JBrowse link
G F7 coagulation factor VII ISO mRNA:increased expression:breast (human) RGD PMID:19996301 RGD:11049547 NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:7492758 PMID:7689011 PMID:8081385 PMID:08128956 PMID:08348157 More... NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
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 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:25741868 PMID:28492532 PMID:33558524 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphism:promoter:-1377G>A RGD PMID:17183065 RGD:2290054 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
JBrowse link
G FGF2 fibroblast growth factor 2 susceptibility
disease_progression
ISO protein:increased expression:mammary gland fluid/secretion RGD PMID:12184408 PMID:14715109 RGD:8655549 RGD:8655587 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G FGF8 fibroblast growth factor 8 ISO mRNA:increased expression:breast epithelium:significant increase in both the number of tumors expressing FGF8 (p=0.019) and the absolute expression level (p=0.031) RGD PMID:10023681 RGD:2289344 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 exacerbates ISO sporadic postmenopausal breast cancer; DNA:SNP:intron:dbSNP ID rs1219648, p=1.1x10-10
DNA:SNP:intron:dbSNP ID rs2981582, p=2X10-76
RGD PMID:17529967 PMID:17529973 PMID:23185502 RGD:155663674 RGD:2289657 RGD:2289658 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO protein:altered localization:even cytoplasmic-nuclear distribution to primarily nuclear RGD PMID:11329138 RGD:2289867 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:mammary carcinoma cells RGD PMID:10604730 RGD:2289937 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G FOXA1 forkhead box A1 disease_progression ISO RGD PMID:27524420 RGD:151665821 NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220
JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:breast (human) RGD PMID:27157613 RGD:151361193 NCBI chr 6:135,281,474...135,319,055
Ensembl chr 6:135,281,521...135,318,714
JBrowse link
G GHR growth hormone receptor ISO protein:increased expression:serum:cases versus controls (p<0.01) RGD PMID:17287408 RGD:2301716 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
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 chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 severity ISO DNA:SNP:CDS:16Ser allele associated with decreased disease free survival alone (p=0.05) or in combination with the insLQ allele of LHCGR (p=0.001) RGD PMID:17692113 RGD:2292541 NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO DNA:repeat:CDS: (human) RGD PMID:14744747 RGD:152995457 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G GRB2 growth factor receptor bound protein 2 treatment ISO RGD PMID:17372910 RGD:13504751 NCBI chr12:5,940,723...6,009,095
Ensembl chr12:5,940,647...6,010,835
JBrowse link
G HFE homeostatic iron regulator no_association
susceptibility
ISO DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human)
DNA:missense mutation:cds:p.C282Y (human)
RGD PMID:14973098 PMID:15894659 RGD:8694348 RGD:8694349 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000
JBrowse link
G HGF hepatocyte growth factor ISO OMIM:114480 MouseDO NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
JBrowse link
G HMMR hyaluronan mediated motility receptor ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to OMIM
ClinVar
PMID:25741868 NCBI chr16:60,290,684...60,332,411
Ensembl chr16:60,290,001...60,331,936
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:7686390 RGD:11520780 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:repeats:intron: RGD PMID:15900487 RGD:8157615 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum (rat) RGD PMID:17584969 RGD:2315650 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein: increased expression RGD PMID:21047775 RGD:7242794 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
JBrowse link
G IGF2 insulin like growth factor 2 ISO RGD PMID:18719053 RGD:2311512 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP1 insulin like growth factor binding protein 1 no_association ISO protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001)
higher serum expression in cases vs controls but association not significant in multivariate analysis
RGD PMID:10069662 PMID:17287408 RGD:2301715 RGD:2301716 NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 no_association ISO DNA:SNP:promoter:no association with rs2854744, 677 cases and 834 controls from the Nurses' Health Study
DNA:SNP:promoter,CDS:variant allele of multiple SNPs including rs2854744, associated with increased risk singly and in combination, 1,193 patients and 1,310 control Chinese women in Shanghai
protein:decreased expression:serum
RGD PMID:10069662 PMID:12925957 PMID:15298948 PMID:17287408 RGD:2290009 RGD:2290011 RGD:2301715 RGD:2301716 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
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
protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016)
RGD PMID:10069662 PMID:17287408 RGD:2301715 RGD:2301716 NCBI chr 5:18,352,884...18,357,225
Ensembl chr 5:18,352,400...18,357,225
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta susceptibility ISO DNA:SNPs: :multiple RGD PMID:22562547 RGD:6484541 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,549
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 treatment ISO RGD PMID:11748276 PMID:17438063 RGD:8549514 RGD:8549557 NCBI chr  X:94,402,665...94,455,609
Ensembl chr  X:94,402,676...94,439,060
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 RGD:8655866 RGD:8655899 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL6 interleukin 6 susceptibility ISO DNA:polymorphism::rs2069832(human) RGD PMID:17594514 RGD:7829720 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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)
protein:increased expression:tumor:four-fold higher vs normal breast tissue
RGD PMID:8518410 PMID:17221153 RGD:2290447 RGD:2290465 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104
JBrowse link
G ITGA1 integrin subunit alpha 1 ISO protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane RGD PMID:9408292 RGD:2302120 NCBI chr16:32,130,265...32,309,917
Ensembl chr16:32,129,612...32,304,592
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:increased activation:tumor: 50% of cases showed activated protein present in mitotic cells at the invasive front, associated with tumor cell proliferation and microvessel density RGD PMID:16733206 RGD:2290479 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G KAT2B lysine acetyltransferase 2B severity ISO mRNA:increased expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345
JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO DNA:missense mutations:cds:p.D1516Y, p.R1577C (human) RGD PMID:23800003 RGD:9590339 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
JBrowse link
G KAT7 lysine acetyltransferase 7 severity ISO protein:increased expression:breast (human) RGD PMID:21040551 RGD:9681004 NCBI chr12:25,970,966...26,005,006
Ensembl chr12:25,970,962...26,008,302
JBrowse link
G KAT8 lysine acetyltransferase 8 severity ISO mRNA:increased expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 3:17,362,326...17,373,110
Ensembl chr 3:17,362,267...17,373,110
JBrowse link
G KDM1A lysine demethylase 1A severity ISO mRNA:increased expression:breast (human)
protein:increased expression:breast (rat)
RGD PMID:22199269 PMID:23516587 RGD:9586031 RGD:9588313 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873
JBrowse link
G KDM3B lysine demethylase 3B severity ISO mRNA:decreased expression:breast (human) RGD PMID:23266085 RGD:9586731 NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527
JBrowse link
G KDM4A lysine demethylase 4A severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr 6:167,597,954...167,642,381
Ensembl chr 6:167,597,956...167,642,333
JBrowse link
G KDM4B lysine demethylase 4B severity
treatment
ISO mRNA:decreased expression:breast (human)
human gene in a mouse model
RGD PMID:21445275 RGD:9587754 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,669...73,889,866
JBrowse link
G KDM4C lysine demethylase 4C severity ISO DNA:snp:cds:p.D396N (rs2296067) (human) RGD PMID:24952432 RGD:9587745 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800
JBrowse link
G KDM5A lysine demethylase 5A severity ISO mRNA:decreased expression:breast (human) RGD PMID:23266085 RGD:9586731 NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
JBrowse link
G KDM5B lysine demethylase 5B treatment ISO human gene in a mouse model RGD PMID:21369698 RGD:9587774 NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447
JBrowse link
G KDM5C lysine demethylase 5C severity ISO mRNA:altered expression:breast (human) RGD PMID:22199269 RGD:9586031 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215
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:39,953,764...40,154,197
Ensembl chr  X:39,953,814...40,154,029
JBrowse link
G KDM8 lysine demethylase 8 ISO mRNA:increased expression:breast (human) RGD PMID:20457893 RGD:9587844 NCBI chr 3:19,653,396...19,676,207
Ensembl chr 3:19,653,402...19,676,148
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression, increased activity:tumor:increased activated KDR in mammary carcinomas vs adjacent normal tissues RGD PMID:10371349 RGD:2291951 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:18334619 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
JBrowse link
G KISS1R KISS1 receptor severity ISO mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival RGD PMID:17914099 RGD:2292123 NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to ClinVar PMID:12023982
G KLK4 kallikrein related peptidase 4 disease_progression
severity
ISO mRNA, protein:increased expression:breast RGD PMID:18687310 PMID:19190825 RGD:2314852 RGD:2314853 NCBI chr 6:55,589,997...55,617,514
Ensembl chr 6:55,589,999...55,594,294
JBrowse link
G KMT2B lysine methyltransferase 2B severity ISO mRNA:increased expression:breast (human) RGD PMID:24491801 RGD:9588564 NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,147,566...45,166,852
JBrowse link
G KMT2D lysine methyltransferase 2D ISO mRNA:decreased expression:breast (human) RGD PMID:23754336 RGD:9588236 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) ISO mRNA:decreased expression:breast (human) RGD PMID:23754336 RGD:9588236 NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Breast cancer, somatic OMIM
ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:12460918 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G KSR1 kinase suppressor of ras 1 disease_progression ISO RGD PMID:24909178 RGD:127229932 NCBI chr12:43,927,222...44,135,833
Ensembl chr12:43,985,732...44,135,833
JBrowse link
G LEP leptin ISO protein:increased expression:serum RGD PMID:16019138 RGD:8694425 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G LETMD1 LETM1 domain containing 1 ISO protein:increased expression:breast RGD PMID:19208263 RGD:2314917
G LHCGR luteinizing hormone/choriogonadotropin receptor severity
onset
ISO DNA:insertion:CDS:insLQ allele associated with decreased disease free survival alone (p=0.007) or in combination with the 16Ser allele of GNRH1 (p=0.001)
DNA:insertion:CDS:insLQ allele associated with earlier onset (51.9 vs 60.2 yrs, p=0.03)
DNA:SNP:CDS:rs2293275, 312Asn allele associated with a slight increase in risk in two patient cohorts (p=0.03 and p=0.001)
RGD PMID:12679452 PMID:17692113 PMID:17709176 RGD:2292539 RGD:2292541 RGD:2292545 NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO protein:increased expression:breast RGD PMID:10508127 RGD:2314923 NCBI chr 2:103,568,366...103,659,589
Ensembl chr 2:103,567,602...103,661,070
JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO RGD PMID:12218061 RGD:1643528 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
JBrowse link
G LOC100739508 glutathione S-transferase P-like treatment ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like susceptibility ISO DNA:polymorphism:promoter:-31T>C (human) RGD PMID:21653279 RGD:7401222
G LTA lymphotoxin alpha susceptibility ISO DNA:SNP:intron
DNA:polymorphism, haplotype: :252A>G (human)
RGD PMID:11841482 PMID:18409070 RGD:8548786 RGD:8548791 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor susceptibility ISO RGD PMID:8971156 RGD:1599219 NCBI chr13:33,658,279...33,662,218
Ensembl chr13:33,658,255...33,662,261
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO protein:increased expression, increased activity:tumor RGD PMID:10216485 RGD:2292627 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO protein:increased expression, increased activity:tumor RGD PMID:10216485 RGD:2292627 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 ISO protein:increased protein:mammary gland RGD PMID:12618338 PMID:24233520 RGD:7495808 RGD:7495809 NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,369...61,417,321
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates ISO mRNA:splice variant:exon 2: (human) RGD PMID:21317887 PMID:32601196 RGD:155230826 RGD:155249848 NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,325...71,308,124
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 disease_progression ISO DNA:SNP:linkage disequilibrium block:minor allele associated with reduced risk of lymph node involvement at diagnosis (p=0.044)
DNA:SNP:linkage disequilibrium block:minor allele of SNP rs889312, p=7x10e-20
mRNA:increased expression:tumor:increased expression in luminal A and normal-like vs other molecular subtypes, (p=5.2x10e-5)
RGD PMID:17529967 PMID:17997823 PMID:18036273 RGD:2289657 RGD:2293356 RGD:2293357 NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 ISO RGD PMID:10490831 RGD:151356925 NCBI chr10:40,714,004...40,746,390
Ensembl chr10:40,713,847...40,742,462
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO protein:increased expression, increased phosphorylation:breast RGD PMID:15928662 RGD:2314939 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
JBrowse link
G MAPK15 mitogen-activated protein kinase 15 disease_progression ISO protein:decreased expression:tumor (human) RGD PMID:12917323 RGD:2304230 NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475
JBrowse link
G MAPT microtubule associated protein tau disease_progression ISO RGD PMID:18668363 RGD:8158093 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
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 chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
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 chr15:37,455,186...37,674,971
Ensembl chr15:37,455,551...37,673,633
JBrowse link
G MDM2 MDM2 proto-oncogene ISO protein:increased expression:breast tumor (rat) RGD PMID:15844214 RGD:2293626 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO OMIM:114480 MouseDO NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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:15741301 PMID:16014702 RGD:2317675 RGD:2317691 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
JBrowse link
G MIR143 microRNA mir-143 ISO RNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:32104069 RGD:153297766 NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817
JBrowse link
G MIR145 microRNA mir-145 ISO RNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:32104069 RGD:153297766 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:increased expression:plasma RGD PMID:26958084 RGD:21066332 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336
JBrowse link
G MIR21 microRNA mir-21 severity ISO RNA:increased expression:thoracic lymph node
RNA:increased expression:peripheral blood mononuclear cell (human)
miRNA:increased expression:breast (human)
RNA:increased expression:blood serum (human)
RGD PMID:18812439 PMID:22638884 PMID:32104069 PMID:32157513 RGD:152025189 RGD:152998878 RGD:152998900 RGD:153297766 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MIR221 microRNA mir-221 ISO RNA:increased expression:serum, thoracic lymph node,breast RGD PMID:32157513 RGD:152025189 NCBI chr  X:40,571,068...40,571,137
Ensembl chr  X:40,571,068...40,571,137
JBrowse link
G MIR222 microRNA mir-222 ISO RNA:increased expression:breast RGD PMID:32157513 RGD:152025189 NCBI chr  X:40,571,808...40,571,887
Ensembl chr  X:40,571,808...40,571,887
JBrowse link
G MIR31 microRNA mir-31 ISO RNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:32104069 RGD:153297766 NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:21880954 PMID:22004841 RGD:6483516 RGD:6483528 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Malignant tumor of breast ClinVar PMID:9506527 PMID:9718327 PMID:10446963 PMID:10713887 PMID:11606497 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression
susceptibility
ISO protein:decreased expression:plasma
protein:increased expression:breast, stromal cell (human)
DNA:insertion:promoter:g.-1607insG (human)
RGD PMID:12473595 PMID:18366705 PMID:21835023 RGD:2298552 RGD:7207138 RGD:7207143 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:17058024 RGD:8693321 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
JBrowse link
G MMP8 matrix metallopeptidase 8 disease_progression ISO DNA:SNP:promoter:minor (T) allele of rs11225395 associated with reduced lymph node metastasis, reduced relapse and greater disease-free survival (p=0.02)
protein:increased expression:plasma:levels higher in patients with moderate lymph node involvement relative to controls and patients with no involvement (p=0.001)
RGD PMID:17974962 PMID:18366705 RGD:2298552 RGD:2298553 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
JBrowse link
G MSH2 mutS homolog 2 susceptibility ISO DNA:polymorphism:cds:p.G322D
ClinVar Annotator: match by term: Breast cancer, susceptibility to | 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 Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast
RGD
ClinVar
PMID:8613431 PMID:9718327 PMID:10080150 PMID:10422993 PMID:10777691 More... RGD:2293512 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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 PMID:10508506 PMID:10537275 PMID:11153917 PMID:11586295 PMID:11709755 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
JBrowse link
G MUC1 mucin 1, cell surface associated ISO RGD PMID:8869094 RGD:7349378 NCBI chr 4:94,626,317...94,631,194 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 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor severity ISO DNA:amplification:exon (human)
OMIM:114480
protein:increased expression:mammary gland (rat)
RGD
MouseDO
PMID:10706127 PMID:22614519 RGD:7207838 RGD:7241002 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor exacerbates ISO RNA:increased expression:breast (human) RGD PMID:26596839 RGD:150524333 NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
JBrowse link
G NBN nibrin susceptibility
disease_progression
ISO DNA:missense mutation:exon:p.I171V
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
DNA:SNP
protein:decreased expression:breast
RGD
ClinVar
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... RGD:2298991 RGD:2298992 RGD:2298993 NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
JBrowse link
G NCOA3 nuclear receptor coactivator 3 ISO RGD PMID:20051871 RGD:5688283 NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200
JBrowse link
G NCOA6 nuclear receptor coactivator 6 ISO DNA:amplification:cds (human) RGD PMID:10567404 RGD:9590137 NCBI chr17:38,114,284...38,221,904
Ensembl chr17:38,114,291...38,221,901
JBrowse link
G