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.
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356
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Alox5
arachidonate 5-lipoxygenase
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Amfr
autocrine motility factor receptor
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr19:11,002,451...11,038,182
Ensembl chr19:10,996,099...11,032,247
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Bcar1
BCAR1 scaffold protein, Cas family member
ISO
RGD
PMID:11605729
RGD:1579979
NCBI chr19:56,588,500...56,623,190
Ensembl chr19:39,679,204...39,713,907
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:9063749 PMID:10196379 PMID:11400546 PMID:14555511 PMID:15235020 PMID:16014699 PMID:17341484 PMID:17585057 PMID:19661094 PMID:20104584 PMID:21232165 PMID:21702907 PMID:21708019 PMID:21965345 PMID:21990134 PMID:22136207 PMID:22703879 PMID:23192404 PMID:23249957 PMID:23469205 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:36329109 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:11062481 PMID:11927503 PMID:14555511 PMID:15235023 PMID:17767707 PMID:20135345 PMID:22703879 PMID:24033266 PMID:24323938 PMID:24728327 PMID:25741868 PMID:28492532 PMID:36329109 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Bsg
basigin
ISO
mRNA:increased expression:breast
RGD
PMID:9154157
RGD:2289059
NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:28492532
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:26467025 PMID:27148582 PMID:28492532
NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376
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Ccdc180
coiled-coil domain containing 180
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 5:64,950,522...65,019,127
Ensembl chr 5:60,154,910...60,223,522
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Ccdc71l
coiled-coil domain containing 71-like
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 6:54,687,474...54,691,566
Ensembl chr 6:48,960,191...48,960,841 Ensembl chr 6:48,960,191...48,960,841
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Cd44
CD44 molecule
disease_progression
ISO
mRNA, protein:splice variant, increased expression:breast
RGD
PMID:16425351
RGD:2289356
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cnnm1
cyclin and CBS domain divalent metal cation transport mediator 1
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:252,245,377...252,304,205
Ensembl chr 1:242,296,422...242,353,513
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Coro6
coronin 6
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr10:62,808,172...62,817,788
Ensembl chr10:62,311,660...62,319,659
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 4:157,004,905...157,085,187
Ensembl chr 4:155,332,827...155,413,117
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Cpxm2
carboxypeptidase X (M14 family), member 2
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:196,266,930...196,377,350
Ensembl chr 1:186,836,797...186,947,220
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390
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Ebag9
estrogen receptor binding site associated antigen 9
severity
ISO
protein:increased expression:breast
RGD
PMID:12054692
RGD:2298489
NCBI chr 7:77,695,213...77,713,565
Ensembl chr 7:75,810,594...75,861,248
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Fubp1
far upstream element binding protein 1
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
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Htra2
HtrA serine peptidase 2
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095
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Kndc1
kinase non-catalytic C-lobe domain containing 1
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:204,119,597...204,167,967
Ensembl chr 1:194,690,135...194,738,362
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Lrat
lecithin retinol acyltransferase
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:168,266,877...168,273,619
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Mical2
microtubule associated monooxygenase, calponin and LIM domain containing 2
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:175,780,441...175,965,157
Ensembl chr 1:166,345,859...166,471,719 Ensembl chr 1:166,345,859...166,471,719
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Nts
neurotensin
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 7:39,451,484...39,460,888
Ensembl chr 7:37,564,533...37,574,423
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497
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Plk4
polo-like kinase 4
ISO
protein:increased expression:breast
RGD
PMID:26439168
RGD:11075990
NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:123,802,512...123,820,942
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Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971
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Rad54l
RAD54 like
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:10362365
NCBI chr 5:134,812,158...134,841,821
Ensembl chr 5:129,575,378...129,605,070
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Rictor
RPTOR independent companion of MTOR, complex 2
ISO
associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human)
RGD
PMID:20978191
RGD:152995469
NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426
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Rnf212
ring finger protein 212
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr14:1,090,752...1,132,242
Ensembl chr14:949,448...987,831
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Rp1
RP1, axonemal microtubule associated
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:15,121,133...15,579,363
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Rrp1
ribosomal RNA processing 1
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr20:10,260,580...10,271,829
Ensembl chr20:10,260,870...10,272,144
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Slco1b2
solute carrier organic anion transporter family member 1B2
disease_progression
ISO
protein:decreased expression:breast (human)
RGD
PMID:17760952
RGD:152995410
NCBI chr 4:176,282,577...176,355,557
Ensembl chr 4:174,551,480...174,619,981
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Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr15:93,977,812...93,984,431
Ensembl chr15:87,563,322...87,570,393
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Spen
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811
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Syt6
synaptotagmin 6
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 2:193,781,051...193,840,741
Ensembl chr 2:191,093,007...191,149,956
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
mRNA:decreased expression:breast
RGD
PMID:17011986
RGD:2290492
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
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Tp73
tumor protein p73
ISO
mRNA:decreased expression:breast
RGD
PMID:17011986
RGD:2290492
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Tspan8
tetraspanin 8
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 7:53,331,019...53,365,402
Ensembl chr 7:51,445,074...51,479,356
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Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
PMID:25741868
NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,772,219...10,943,914
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Xiap
X-linked inhibitor of apoptosis
severity
ISO
RGD
PMID:17350670
RGD:2315853
NCBI chr X:125,756,107...125,803,979
Ensembl chr X:120,897,907...120,934,700
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Yeats2
YEATS domain containing 2
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr11:94,247,538...94,333,652
Ensembl chr11:80,743,134...80,829,208
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265
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Zfp420
zinc finger protein 420
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:94,259,715...94,271,102
Ensembl chr 1:85,132,520...85,143,679
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Zfp473
zinc finger protein 473
ISO
ClinVar Annotator: match by term: Ductal breast carcinoma
ClinVar
NCBI chr 1:104,358,757...104,379,833
Ensembl chr 1:95,223,433...95,243,325
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Abcb1a
ATP binding cassette subfamily B member 1A
disease_progression
ISO
RGD
PMID:19879256
RGD:2315549
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356
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Adam28
ADAM metallopeptidase domain 28
disease_progression
ISO
DNA:hypermethylation:CpG island
RGD
PMID:19549921
RGD:153298911
NCBI chr15:50,184,286...50,250,605
Ensembl chr15:42,944,467...43,840,672
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Adgrb1
adhesion G protein-coupled receptor B1
disease_progression
ISO
RGD
PMID:25376607
RGD:13831358
NCBI chr 7:108,293,681...108,365,892
Ensembl chr 7:106,404,958...106,476,902
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:breast
RGD
PMID:22366088
RGD:8695990
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Akt1
AKT serine/threonine kinase 1
ISO
DNA:missense mutation:p.E17K (human)
RGD
PMID:18392055
RGD:13209138
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Alox5
arachidonate 5-lipoxygenase
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Amfr
autocrine motility factor receptor
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr19:11,002,451...11,038,182
Ensembl chr19:10,996,099...11,032,247
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Anxa1
annexin A1
treatment
ISO
RGD
PMID:18776816 PMID:19171478
RGD:7421535 , RGD:7421560
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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Anxa2
annexin A2
treatment
ISO
RGD
PMID:19171478
RGD:7421560
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Ar
androgen receptor
severity
ISO
RGD
PMID:16075292
RGD:1643344
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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Areg
amphiregulin
ISO
RGD
PMID:11523048
RGD:2292660
NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
protein:increased expression:breast (human)
RGD
PMID:21136934
RGD:11049179
NCBI chr 9:83,269,884...83,300,610
Ensembl chr 9:75,820,770...75,851,471
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Atf4
activating transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14604972
NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:111,804,183...111,806,446
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Aurka
aurora kinase A
ISO
protein:altered expression
RGD
PMID:14693746
RGD:1643348
NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390
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Bag1
BAG cochaperone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19066611
NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast
ClinVar
PMID:7493024 PMID:9063749 PMID:10196379 PMID:11179017 PMID:11400546 PMID:11802209 PMID:11956590 PMID:12698193 PMID:12955716 PMID:14517958 PMID:14555511 PMID:14760071 PMID:15145354 PMID:15235020 PMID:16014699 PMID:16455195 PMID:17341484 PMID:17585057 PMID:17645508 PMID:19661094 PMID:20104584 PMID:20727672 PMID:21232165 PMID:21702907 PMID:21708019 PMID:21965345 PMID:21989022 PMID:21990134 PMID:22136207 PMID:22703879 PMID:22711857 PMID:22798144 PMID:23192404 PMID:23249957 PMID:23469205 PMID:23479189 PMID:23633455 PMID:24033266 PMID:24728327 PMID:24884479 PMID:25256238 PMID:25682074 PMID:25741868 PMID:25863477 PMID:26026974 PMID:26295337 PMID:26467025 PMID:26689913 PMID:28176296 PMID:28324225 PMID:28492532 PMID:28831036 PMID:29310832 PMID:29446198 PMID:29625052 PMID:29907814 PMID:29928469 PMID:30014164 PMID:30078507 PMID:30322717 PMID:30350268 PMID:30606148 PMID:30702160 PMID:30720863 PMID:31090900 PMID:31214711 PMID:31825140 PMID:32341426 PMID:32375709 PMID:33471991 PMID:33654310 PMID:34290354 PMID:36329109 PMID:36537080 PMID:36974006 PMID:37851290 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast | ClinVar Annotator: match by term: Invasive Ductal Carcinoma, Not Otherwise Specified
ClinVar
PMID:11062481 PMID:11927503 PMID:14555511 PMID:14973102 PMID:15145354 PMID:15235023 PMID:17767707 PMID:17899372 PMID:18627636 PMID:18779604 PMID:19043619 PMID:19499246 PMID:20135345 PMID:21218378 PMID:22126563 PMID:22476429 PMID:22703879 PMID:24033266 PMID:24323938 PMID:24470074 PMID:24728327 PMID:25741868 PMID:25782689 PMID:25980754 PMID:26221963 PMID:26402875 PMID:26467025 PMID:26530882 PMID:26757417 PMID:27157322 PMID:27257965 PMID:27658390 PMID:27701467 PMID:27907908 PMID:28111427 PMID:28222693 PMID:28277317 PMID:28283652 PMID:28351343 PMID:28419251 PMID:28492532 PMID:28993434 PMID:29192238 PMID:29240602 PMID:29394989 PMID:29681614 PMID:29752822 PMID:29988080 PMID:30287823 PMID:30415210 PMID:30702160 PMID:31825140 PMID:31837001 PMID:31911673 PMID:32444794 PMID:32467295 PMID:32879886 PMID:33428613 PMID:33471991 PMID:33563768 PMID:35534218 PMID:35918668 PMID:36329109 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Brms1
BRMS1, transcriptional repressor and anoikis regulator
disease_progression
ISO
RGD
PMID:15592684
RGD:2289400
NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:202,345,704...202,355,028
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
PMID:28492532
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
PMID:26467025 PMID:27148582 PMID:28492532
NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376
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Cav1
caveolin 1
no_association
ISO
DNA:missense mutation: :p.P132L (human)
RGD
PMID:21909981
RGD:8661779
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Ccdc180
coiled-coil domain containing 180
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 5:64,950,522...65,019,127
Ensembl chr 5:60,154,910...60,223,522
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Ccdc71l
coiled-coil domain containing 71-like
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 6:54,687,474...54,691,566
Ensembl chr 6:48,960,191...48,960,841 Ensembl chr 6:48,960,191...48,960,841
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:breast, ductal carcinoma (human)
RGD
PMID:18790652
RGD:4891911
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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Ccnd3
cyclin D3
severity
ISO
protein:increased expression:breast
RGD
PMID:11329139
RGD:2316016
NCBI chr 9:20,891,696...20,987,199
Ensembl chr 9:13,394,169...13,489,371
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16611412
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
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Cd44
CD44 molecule
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:17059779
RGD:2289352
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8557030 PMID:17660459
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:hypermethylation:promoter:breast, serum
RGD
PMID:17383681
RGD:2289677
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
DNA:hypermethylation:promoter:breast, serum
RGD
PMID:17383681
RGD:2289677
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
ISO
DNA:hypermethylation:promoter:breast, serum
RGD
PMID:17383681
RGD:2289677
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Cldn4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19142967
NCBI chr12:27,388,160...27,389,958
Ensembl chr12:21,751,331...21,753,436
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Clu
clusterin
ISO
RGD
PMID:10934144
RGD:8699513
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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Cnnm1
cyclin and CBS domain divalent metal cation transport mediator 1
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:252,245,377...252,304,205
Ensembl chr 1:242,296,422...242,353,513
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Coro6
coronin 6
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr10:62,808,172...62,817,788
Ensembl chr10:62,311,660...62,319,659
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 4:157,004,905...157,085,187
Ensembl chr 4:155,332,827...155,413,117
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Cpxm2
carboxypeptidase X (M14 family), member 2
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:196,266,930...196,377,350
Ensembl chr 1:186,836,797...186,947,220
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390
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Crkl
CRK like proto-oncogene, adaptor protein
disease_progression
ISO
protein:increased expression:breast
RGD
PMID:23686806
RGD:7488897
NCBI chr11:97,033,033...97,067,457
Ensembl chr11:83,526,530...83,563,238
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Csnk1e
casein kinase 1, epsilon
ISO
DNA:mutation:CDS:multiple nonsynonymous mutations (human)
RGD
PMID:14871824
RGD:2306813
NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:110,983,318...111,006,794
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Dlg1
discs large MAGUK scaffold protein 1
ISO
DNA:mutation:CDS:multiple nonsynonymous mutations (human)
RGD
PMID:14871824
RGD:2306813
NCBI chr11:82,416,853...82,607,797
Ensembl chr11:68,911,883...69,102,689
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Ebag9
estrogen receptor binding site associated antigen 9
ISO
mRNA, protein:increased expression:breast
RGD
PMID:11742495
RGD:2289858
NCBI chr 7:77,695,213...77,713,565
Ensembl chr 7:75,810,594...75,861,248
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28235801
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:14532106
RGD:9588325
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
protein:increased expression:breast (human)
RGD
PMID:19141649
RGD:11554027
NCBI chr X:23,466,791...23,509,773
Ensembl chr X:20,023,746...20,066,566
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:12231533
RGD:2289894
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
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Foxc1
forkhead box C1
disease_progression
ISO
RGD
PMID:21424368
RGD:8662363
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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Fubp1
far upstream element binding protein 1
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:altered localization:nucleus
RGD
PMID:16080559
RGD:2306227
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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Hoxb7
homeo box B7
ISO
mRNA:increased expression:breast epithelium (human)
RGD
PMID:17018609
RGD:10402178
NCBI chr10:81,749,159...81,752,577
Ensembl chr10:81,252,553...81,256,034
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Hsd17b1
hydroxysteroid (17-beta) dehydrogenase 1
severity
ISO
protein:decreased expression:ductal breast carcinoma (human)
RGD
PMID:10682658
RGD:4890946
NCBI chr10:86,510,011...86,512,211
Ensembl chr10:86,009,728...86,011,927
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Htra2
HtrA serine peptidase 2
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095
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Il13
interleukin 13
ISO
protein:increased expression:breast
RGD
PMID:22135852
RGD:8549515
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
ISO
protein:increased expression:breast
RGD
PMID:21263407
RGD:8655888
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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Inha
inhibin subunit alpha
ISO
RGD
PMID:15583806
RGD:2290390
NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:76,993,589...76,997,248
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Jup
junction plakoglobin
disease_progression
ISO
RGD
PMID:16610682
RGD:2291882
NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057
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Kiss1
KiSS-1 metastasis-suppressor
disease_progression
ISO
RGD
PMID:15592684
RGD:2289400
NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
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Kit
KIT proto-oncogene receptor tyrosine kinase
severity
ISO
RGD
PMID:16721362
RGD:2292426
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Kndc1
kinase non-catalytic C-lobe domain containing 1
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:204,119,597...204,167,967
Ensembl chr 1:194,690,135...194,738,362
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Lrat
lecithin retinol acyltransferase
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:168,266,877...168,273,619
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Map2k4
mitogen activated protein kinase kinase 4
disease_progression
ISO
RGD
PMID:15592684
RGD:2289400
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:10590366
RGD:2317607
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mical2
microtubule associated monooxygenase, calponin and LIM domain containing 2
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:175,780,441...175,965,157
Ensembl chr 1:166,345,859...166,471,719 Ensembl chr 1:166,345,859...166,471,719
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Mier3
MIER family member 3
ISO
mRNA:increased expression:breast
RGD
PMID:22993404
RGD:407571689
NCBI chr 2:45,021,167...45,049,745
Ensembl chr 2:43,287,916...43,316,136
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Mmp13
matrix metallopeptidase 13
disease_progression
ISO
RGD
PMID:11585740
RGD:2293606
NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239
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Ncoa4
nuclear receptor coactivator 4
ISO
protein:decreased expression:breast
RGD
PMID:11561770
RGD:2293536
NCBI chr16:7,395,502...7,415,846
Ensembl chr16:7,366,542...7,409,641 Ensembl chr16:7,366,542...7,409,641
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Nefl
neurofilament light chain
ISO
DNA:loss of heterozygosity
RGD
PMID:8814452
RGD:2298999
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28235801
NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,403,069...100,420,598
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Ntrk3
neurotrophic receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:breast:
RGD
PMID:20802235
RGD:150520014
NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:132,132,849...132,503,286
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Nts
neurotensin
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 7:39,451,484...39,460,888
Ensembl chr 7:37,564,533...37,574,423
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Pcna
proliferating cell nuclear antigen
severity
ISO
RGD
PMID:8102204
RGD:2315014
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497
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Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971
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Prkci
protein kinase C, iota
disease_progression
ISO
protein:increased expression, altered localization:breast, cytoplasm
RGD
PMID:18538170
RGD:2314932
NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:112,321,929...112,382,352
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Ptger1
prostaglandin E receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11751431
NCBI chr19:41,374,983...41,379,593
Ensembl chr19:24,467,532...24,473,559
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21153458
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Rad50
RAD50 double strand break repair protein
ISO
RGD
PMID:14511253
RGD:2300250
NCBI chr10:38,310,147...38,362,100
Ensembl chr10:37,808,726...37,861,396
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Rad54l
RAD54 like
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
PMID:10362365
NCBI chr 5:134,812,158...134,841,821
Ensembl chr 5:129,575,378...129,605,070
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Rnf212
ring finger protein 212
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr14:1,090,752...1,132,242
Ensembl chr14:949,448...987,831
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Rp1
RP1, axonemal microtubule associated
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:15,121,133...15,579,363
G
Rrp1
ribosomal RNA processing 1
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr20:10,260,580...10,271,829
Ensembl chr20:10,260,870...10,272,144
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Runx3
RUNX family transcription factor 3
disease_progression
ISO
DNA, protein:hypermethylation, altered localization:promoter
RGD
PMID:18256927
RGD:2302557
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156
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Serpinb5
serpin family B member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19944674
NCBI chr13:23,500,203...23,520,401
Ensembl chr13:22,985,557...23,005,756
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Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr15:93,977,812...93,984,431
Ensembl chr15:87,563,322...87,570,393
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20565773
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Socs1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383
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Socs2
suppressor of cytokine signaling 2
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr 7:31,890,564...31,932,092
Ensembl chr 7:30,008,578...30,043,548
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Socs3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:breast
RGD
PMID:12888825
RGD:2298909
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23964924
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Spen
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811
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Syt6
synaptotagmin 6
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 2:193,781,051...193,840,741
Ensembl chr 2:191,093,007...191,149,956
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Tmbim6
transmembrane BAX inhibitor motif containing 6
disease_progression
IEP
RGD
PMID:17054309
RGD:2291958
NCBI chr 7:132,405,217...132,422,492
Ensembl chr 7:130,527,316...130,543,633
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Tspan8
tetraspanin 8
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 7:53,331,019...53,365,402
Ensembl chr 7:51,445,074...51,479,356
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Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
PMID:25741868
NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,772,219...10,943,914
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Ubr5
ubiquitin protein ligase E3 component n-recognin 5
ISO
DNA:mutation:CDS:multiple nonsynonymous mutations
RGD
PMID:14871824
RGD:2306813
NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:69,116,761...69,224,903
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Vegfc
vascular endothelial growth factor C
disease_progression
ISO
RGD
PMID:19885590
RGD:2315471
NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848
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Wif1
Wnt inhibitory factor 1
ISO
protein:decreased expression:breast
RGD
PMID:14517837
RGD:727214
NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:56,548,053...56,618,360
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:18752184
RGD:2302569
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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Yeats2
YEATS domain containing 2
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr11:94,247,538...94,333,652
Ensembl chr11:80,743,134...80,829,208
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265
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Zfp420
zinc finger protein 420
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:94,259,715...94,271,102
Ensembl chr 1:85,132,520...85,143,679
G
Zfp473
zinc finger protein 473
ISO
ClinVar Annotator: match by term: Breast cancer, invasive ductal
ClinVar
NCBI chr 1:104,358,757...104,379,833
Ensembl chr 1:95,223,433...95,243,325
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