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: Endometrioid Carcinomas
Accession: DOID:9004265
browse the term
Definition: An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.
Synonyms: exact_synonym: endometrioid adenocarcinoma; endometrioid adenocarcinomas; endometrioid carcinoma
narrow_synonym: ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION; stage I endometrioid carcinoma; stage II endometrioid carcinoma
primary_id: MESH:D018269
xref: EFO:0000205 ; EFO:0000206 ; EFO:0000466
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Akt1
thymoma viral proto-oncogene 1
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Apc
APC, WNT signaling pathway regulator
ISO
DNA:hypermethylation: (human)
RGD
PMID:18570730
RGD:13432144
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Areg
amphiregulin
ISO
mRNA, protein:increased expression:endometrium
RGD
PMID:16962163
RGD:2289950
NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
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Atp7b
ATPase, Cu++ transporting, beta polypeptide
disease_progression
ISO
protein:increased expression:endometrium
RGD
PMID:15790435
RGD:2298864
NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:12782598
RGD:2296026
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Car9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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Ccne1
cyclin E1
ISO
protein:increased expression:endometrium
RGD
PMID:17483252
RGD:2289230
NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
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Cdh1
cadherin 1
ISO
protein:decreased expression:endometrium
RGD
PMID:18295959
RGD:2296045
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Cdk2
cyclin dependent kinase 2
severity
ISO
RGD
PMID:9673386
RGD:2298990
NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
RGD
PMID:17985331
RGD:2299091
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Chek2
checkpoint kinase 2
susceptibility
ISO
RGD
PMID:17164260
RGD:2293868
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Ctnnb1
catenin beta 1
ISO
DNA:mutations
RGD
PMID:17418409
RGD:2289817
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Daxx
Fas death domain-associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
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Dnmt1
DNA methyltransferase 1
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Dnmt3b
DNA methyltransferase 3B
ISO
mRNA,protein:increased expression:uterus:
RGD
PMID:15721400
RGD:9588596
NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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Egfr
epidermal growth factor receptor
ISO
mRNA:decreased expression:endometrium ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar RGD
PMID:22885469 PMID:16962163
RGD:2289950
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Eno2
enolase 2, gamma neuronal
ISO
RGD
PMID:18156975
RGD:2293737
NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
RGD
PMID:16962163
RGD:2289950
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
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Esr1
estrogen receptor 1 (alpha)
severity
ISO
protein:increased phosphorylation
RGD
PMID:14559803
RGD:4105451
NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar RGD
PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15523615 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18541976 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 PMID:17525745 More...
RGD:2289862
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
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Igfbp3
insulin-like growth factor binding protein 3
disease_progression
ISO
RGD
PMID:17952116
RGD:2301465
NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
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Inha
inhibin alpha
ISO
RGD
PMID:17143484
RGD:2290368
NCBI chr 1:75,483,872...75,487,010
Ensembl chr 1:75,483,721...75,487,010
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Inhba
inhibin beta-A
ISO
protein:decreased expression:endometrium
RGD
PMID:16423381
RGD:2301688
NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206
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Kdr
kinase insert domain protein receptor
severity
ISO
RGD
PMID:16557278
RGD:2291929
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
associated with Ovarian Neoplasms
RGD
PMID:19542870
RGD:2314910
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lnpep
leucyl/cystinyl aminopeptidase
ISO
associated with Endometrial Neoplasms
RGD
PMID:15218296
RGD:2314922
NCBI chr17:17,747,985...17,846,303
Ensembl chr17:17,741,672...17,845,312
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Mapk1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:24917306
RGD:13441559
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
RGD
PMID:24917306
RGD:13441559
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352
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Nkx2-1
NK2 homeobox 1
ISO
DNA:hypermethylation
RGD
PMID:17504987
RGD:2290483
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
protein:decreased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdgfrb
platelet derived growth factor receptor, beta polypeptide
ISO
protein:increased expression:ovary
RGD
PMID:15791568
RGD:2298578
NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
ClinVar
PMID:21984976 PMID:25741868
NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357
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Pole
polymerase (DNA directed), epsilon
ameliorates
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Endometrioid adenocarcinoma
ClinVar RGD
PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:28492532 PMID:29505428 More...
RGD:151347648
NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340
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Pten
phosphatase and tensin homolog
ISO
DNA:mutations: :multiple DNA:loss of heterozygosity, mutations:multiple (human)
RGD
PMID:17418409 PMID:11156411
RGD:2289817 , RGD:12802357
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16633066
RGD:1581360
NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
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St14
suppression of tumorigenicity 14 (colon carcinoma)
ISO
associated with Ovarian Neoplasms;protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 9:30,999,886...31,043,138
Ensembl chr 9:31,000,698...31,043,149
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Wif1
Wnt inhibitory factor 1
ISO
mRNA:increased expression:ovary
RGD
PMID:16436637
RGD:2298535
NCBI chr10:120,869,909...120,936,547
Ensembl chr10:120,869,865...120,936,555
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Angpt1
angiopoietin 1
ISO
protein:increased expression:endometrium epithelium
RGD
PMID:17295646
RGD:2293852
NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373
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Angpt2
angiopoietin 2
ISO
protein:increased expression:endometrium epithelium
RGD
PMID:17295646
RGD:2293852
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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Arid1a
AT-rich interaction domain 1A
treatment
ISO
human cell in mouse model
RGD
PMID:21900401
RGD:126725086
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Axin2
axin 2
ISO
RGD
PMID:11940574
RGD:13432156
NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609
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Bet1l
Bet1 golgi vesicular membrane trafficking protein like
disease_progression
ISO
RGD
PMID:28654152
RGD:14394612
NCBI chr 7:140,433,297...140,437,306
Ensembl chr 7:140,433,307...140,437,490
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Cd55
CD55 molecule, decay accelerating factor for complement
ISO
RGD
PMID:11506079
RGD:2326173
NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481
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Ebag9
estrogen receptor-binding fragment-associated gene 9
ISO
protein:increased expression:endometrium
RGD
PMID:16112719
RGD:2289850
NCBI chr15:44,482,574...44,504,916
Ensembl chr15:44,482,571...44,504,911
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Foxo3
forkhead box O3
severity
ISO
associated with Obesity;protein:decreased expression:endometrium (human)
RGD
PMID:26045339
RGD:11530998
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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Gpx3
glutathione peroxidase 3
ISO
mRNA:decreased expression:endometrium (rat)
RGD
PMID:19426485
RGD:2312621
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Irf1
interferon regulatory factor 1
ISO
DNA:deletions (rat)
RGD
PMID:19075038
RGD:5128782
NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200
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Jun
jun proto-oncogene
no_association
ISO
RGD
PMID:10684716
RGD:2290482
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat)
RGD
PMID:10775052
RGD:1600499
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Mapk1
mitogen-activated protein kinase 1
treatment
ISO
human tumor in a mouse model protein:decreased phosphorylation:endometrium (human)
RGD
PMID:23402905 PMID:14760076
RGD:13703125 , RGD:13703137
NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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Mapk3
mitogen-activated protein kinase 3
treatment
ISO
human tumor in a mouse model protein:decreased phosphorylation:endometrium (human)
RGD
PMID:23402905 PMID:14760076
RGD:13703125 , RGD:13703137
NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
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Pdcd10
programmed cell death 10
disease_progression
ISO
protein:increased expression:endometrium (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:21478295
RGD:13441595
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pten
phosphatase and tensin homolog
ameliorates
IGI
RGD
PMID:32843721
RGD:127285600
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:endometrium
RGD
PMID:11592775
RGD:2300089
NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875
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Rrm2
ribonucleotide reductase M2
ISO
DNA:amplification (rat)
RGD
PMID:15942940
RGD:2324953
NCBI chr12:24,758,253...24,764,145
Ensembl chr12:24,758,240...24,764,145
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Tgfbr3
transforming growth factor, beta receptor III
ISO
mRNA:decreased expression:endometrium
RGD
PMID:15745937
RGD:1579943
NCBI chr 5:107,254,433...107,437,495
Ensembl chr 5:107,254,436...107,437,495
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Trp53
transformation related protein 53
disease_progression
ISO
DNA:missense mutations protein:increased expression:endometrium
RGD
PMID:1540970 PMID:1540970
RGD:2290541 , RGD:2290541
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Tsg101
tumor susceptibility gene 101
ISO
mRNA:alternative forms
RGD
PMID:10027311
RGD:2291854
NCBI chr 7:46,538,693...46,569,716
Ensembl chr 7:46,538,697...46,569,717
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Atm
ataxia telangiectasia mutated
ISO
ClinVar Annotator: match by term: Endometrial serous adenocarcinoma
ClinVar
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Brca2
breast cancer 2, early onset
susceptibility
ISO
DNA:deletion: :6174delT
RGD
PMID:16650962
RGD:2289045
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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