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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:Adnexal Diseases
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Accession:DOID:9003261 term browser browse the term
Definition:Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT).
Synonyms:exact_synonym: Adnexal Disease
 primary_id: MESH:D000291;   RDO:0002411
For additional species annotation, visit the Alliance of Genome Resources.


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46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr23:35,508,478...35,536,081 JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO ClinVar Annotator: match by term: 46,XX sex reversal 1 OMIM
ClinVar		 PMID:25741868
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XX sex reversal 2 OMIM
ClinVar		 PMID:21208124 PMID:22051515 NCBI chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172 		JBrowse link
Acromesomelic Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 3 OMIM
ClinVar		 PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More... NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444 		JBrowse link
anovulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR5A2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628394 NCBI chr 7:2,925,915...3,062,118
Ensembl chr 7:2,927,326...3,062,348 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr23:35,145,856...35,147,185 JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMHR2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 RGD PMID:17243131 RGD:2289660 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 9:54,896,464...54,907,698 JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
endometrial adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:endometrium epithelium RGD PMID:17295646 RGD:2293852 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701 		JBrowse link
G ARID1A AT-rich interaction domain 1A treatment ISO human cell in mouse model RGD PMID:21900401 RGD:126725086 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G AXIN2 axin 2 ISO RGD PMID:11940574 RGD:13432156 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like disease_progression ISO RGD PMID:28654152 RGD:14394612 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299 		JBrowse link
G CD55 CD55 molecule ISO RGD PMID:11506079 RGD:2326173 NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226 		JBrowse link
G EBAG9 estrogen receptor binding site associated antigen 9 ISO protein:increased expression:endometrium RGD PMID:16112719 RGD:2289850 NCBI chr13:10,081,700...10,099,737
Ensembl chr13:10,081,695...10,099,501 		JBrowse link
G FOXO3 forkhead box O3 severity ISO associated with Obesity;protein:decreased expression:endometrium (human) RGD PMID:26045339 RGD:11530998 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GPX3 glutathione peroxidase 3 ISO mRNA:decreased expression:endometrium (rat) RGD PMID:19426485 RGD:2312621 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO DNA:deletions (rat) RGD PMID:19075038 RGD:5128782 NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit no_association ISO protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade RGD PMID:10684716 RGD:2290482 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) RGD PMID:10775052 RGD:1600499 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO protein:decreased phosphorylation:endometrium (human)
human tumor in a mouse model		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO human tumor in a mouse model
protein:decreased phosphorylation:endometrium (human)		 RGD PMID:14760076 PMID:23402905 RGD:13703125 RGD:13703137 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO DNA:mutations:multiple (human) RGD PMID:21478295 RGD:13441595 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:32843721 RGD:127285600 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTGES prostaglandin E synthase ISO protein:increased expression:endometrium RGD PMID:11592775 RGD:2300089 NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO DNA:amplification (rat) RGD PMID:15942940 RGD:2324953 NCBI chr17:7,106,515...7,113,868
Ensembl chr17:7,104,961...7,122,939 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO mRNA:decreased expression:endometrium RGD PMID:15745937 RGD:1579943 NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:missense mutations
protein:increased expression:endometrium		 RGD PMID:1540970 RGD:2290541 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TSG101 tumor susceptibility 101 ISO mRNA:alternative forms RGD PMID:10027311 RGD:2291854 NCBI chr21:40,910,870...40,952,922
Ensembl chr21:40,910,874...40,952,808 		JBrowse link
endometrial serous adenocarcinoma 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: Endometrial serous adenocarcinoma ClinVar NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
Endometrioid Carcinomas 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: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO mRNA, protein:decreased expression:endometrium (human) RGD PMID:18570730 RGD:13432144 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G AREG amphiregulin ISO mRNA, protein:increased expression:endometrium RGD PMID:16962163 RGD:2289950 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738 		JBrowse link
G ATP7B ATPase copper transporting beta disease_progression ISO protein:increased expression:endometrium RGD PMID:15790435 RGD:2298864 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:12782598 RGD:2296026 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CA9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267 		JBrowse link
G CCNE1 cyclin E1 ISO protein:increased expression:endometrium RGD PMID:17483252 RGD:2289230 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649 		JBrowse link
G CDH1 cadherin 1 ISO protein:decreased expression:endometrium RGD PMID:18295959 RGD:2296045 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDK2 cyclin dependent kinase 2 severity ISO RGD PMID:9673386 RGD:2298990 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:17985331 RGD:2299091 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CHEK2 checkpoint kinase 2 susceptibility ISO RGD PMID:17164260 RGD:2293868 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutations RGD PMID:17418409 RGD:2289817 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DAXX death domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA,protein:increased expression:uterus: RGD PMID:15721400 RGD:9588596 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:22885469 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ENO2 enolase 2 ISO RGD PMID:18156975 RGD:2293737 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:16962163 RGD:2289950 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:16962163 RGD:2289950 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:16962163 RGD:2289950 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ESR1 estrogen receptor 1 severity ISO protein:increased phosphorylation RGD PMID:14559803 RGD:4105451 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:7719344 PMID:8651276 PMID:9462761 PMID:9719378 PMID:10851026 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 disease_progression ISO RGD PMID:17952116 RGD:2301465 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G INHA inhibin subunit alpha ISO protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue RGD PMID:17143484 RGD:2290368 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G INHBA inhibin subunit beta A ISO protein:decreased expression:endometrium RGD PMID:16423381 RGD:2301688 NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794 		JBrowse link
G KDR kinase insert domain receptor severity ISO protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) RGD PMID:16557278 RGD:2291929 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO associated with Ovarian Neoplasms RGD PMID:19542870 RGD:2314910 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LNPEP leucyl and cystinyl aminopeptidase ISO associated with Endometrial Neoplasms RGD PMID:15218296 RGD:2314922 NCBI chr 3:12,668,994...12,766,712
Ensembl chr 3:12,681,577...12,767,183 		JBrowse link
G LOC611363 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 6:39,827,985...39,834,945 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:24917306 RGD:13441559 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO DNA:hypermethylation RGD PMID:17504987 RGD:2290483
G PDGFRA platelet derived growth factor receptor alpha ISO protein:decreased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:ovary RGD PMID:15791568 RGD:2298578 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation ClinVar PMID:21984976 NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ameliorates ISO DNA:mutations:multiple (human) RGD PMID:29505428 RGD:151347648 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917 		JBrowse link
G PTEN phosphatase and tensin homolog ISO DNA:loss of heterozygosity, mutations:multiple (human)
DNA:mutations: :multiple		 RGD PMID:11156411 PMID:17418409 RGD:12802357 RGD:2289817 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO associated with Ovarian Neoplasms;protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16436637 RGD:2298535 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
endometritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP3 caspase 3 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr32:29,897,706...29,910,522
Ensembl chr32:29,897,823...29,911,469 		JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26920733 RGD:13782281 NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:endometrium RGD PMID:25330821 RGD:11059518 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 ameliorates ISO RGD PMID:31365951 RGD:126928127 NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236 		JBrowse link
fallopian tube disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR5 C-C motif chemokine receptor 5 ISO associated with Chlamydia Infections;DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:16118671 RGD:8549760 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
Fallopian Tube Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:fallopian tube RGD PMID:17927588 RGD:2299088 NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
familiar ovarian carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Familial ovarian carcinoma ClinVar PMID:33832919 NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
granulosa cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMH anti-Mullerian hormone disease_progression ISO RGD PMID:19359032 RGD:2315639 NCBI chr20:56,785,960...56,788,815 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr26:18,487,700...18,539,678
Ensembl chr26:18,532,479...18,533,576 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD PMID:16488995 RGD:1643593 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G FANCF FA complementation group F disease_progression
susceptibility		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:11994539 PMID:15967102 RGD:2289157 RGD:2302176 NCBI chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr18:13,375,216...13,467,811
Ensembl chr18:13,376,425...13,468,038 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr16:14,671,345...14,675,000
Ensembl chr16:14,671,130...14,674,926 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 1:27,086,431...27,196,601
Ensembl chr 1:27,087,361...27,196,521 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr11:24,027,603...24,082,673
Ensembl chr11:24,028,126...24,078,169 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
Granulosa Cell Tumor of the Ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		JBrowse link
hereditary breast ovarian cancer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1CF APOBEC1 complementation factor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr26:37,027,165...37,109,842
Ensembl chr26:37,027,275...37,102,888 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674 		JBrowse link
G ABRAXAS1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr32:7,298,789...7,316,665
Ensembl chr32:7,298,790...7,317,001 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr20:56,785,960...56,788,815 JBrowse link
G AMHR2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		JBrowse link
G ANKRD31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:25741868 NCBI chr 3:31,067,936...31,188,066
Ensembl chr 3:31,028,026...31,186,827 		JBrowse link
G ARL4D ADP ribosylation factor like GTPase 4D ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,832,608...19,834,593
Ensembl chr 9:19,833,192...19,833,797 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:2677459 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8665503 More... NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:9425226 PMID:11807980 PMID:12832489 PMID:14550946 PMID:15342711 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867 		JBrowse link
G BCAR1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:75,463,906...75,499,557
Ensembl chr 5:75,463,926...75,512,476 		JBrowse link
G BCL2L1 BCL2 like 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:25,618,262...25,847,920
Ensembl chr17:25,617,892...25,847,202 		JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:7585968 PMID:17407155 PMID:23129629 PMID:23292937 PMID:24728327 More... NCBI chr 3:53,408,120...53,506,728
Ensembl chr 3:53,408,217...53,473,146 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:18356561 PMID:19555857 PMID:20002458 PMID:20534176 PMID:21737554 More... NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome		 OMIM
ClinVar		 PMID:20 PMID:125827 PMID:824983 PMID:953609 PMID:1157798 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome		 OMIM
ClinVar		 PMID:1 PMID:1234 PMID:234495 PMID:1169856 PMID:1232165 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:12565990 PMID:12569564 PMID:12872252 PMID:16116423 PMID:16116424 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G C1H9orf3 aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:3338800 PMID:6504056 PMID:7792600 PMID:8665503 PMID:8797579 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291 		JBrowse link
G CCNG1 cyclin G1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:10896919 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CDK12 cyclin dependent kinase 12 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:24728327 PMID:25741868 NCBI chr 9:22,900,170...22,979,353
Ensembl chr 9:22,917,979...22,979,019 		JBrowse link
G CDK20 cyclin dependent kinase 20 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:97,623,126...97,662,668
Ensembl chr 1:97,622,998...97,662,662 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr13:12,401,118...13,570,464
Ensembl chr13:12,401,565...13,569,798 		JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091 		JBrowse link
G CTNNA2 catenin alpha 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:43,472,346...44,504,881
Ensembl chr17:43,472,923...44,557,766 		JBrowse link
G DHX8 DEAH-box helicase 8 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,734,356...19,766,212
Ensembl chr 9:19,729,816...19,766,555 		JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532 		JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868
G EED embryonic ectoderm development ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr21:13,260,062...13,289,511
Ensembl chr21:13,260,002...13,289,337 		JBrowse link
G EFCAB10 EF-hand calcium binding domain 10 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr18:14,833,401...14,844,081
Ensembl chr18:14,833,472...14,845,956 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:32566746 NCBI chr10:49,446,165...49,498,690
Ensembl chr10:49,485,746...49,498,475 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr25:29,785,641...29,812,536
Ensembl chr25:29,787,132...29,811,112 		JBrowse link
G ETV4 ETS variant transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,715,259...19,731,085
Ensembl chr 9:19,715,535...19,730,456 		JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 7:33,237,124...33,268,835
Ensembl chr 7:33,237,593...33,268,254 		JBrowse link
G EYA2 EYA transcriptional coactivator and phosphatase 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:34,126,086...34,308,412
Ensembl chr24:34,082,197...34,308,423 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,013,744...38,053,096
Ensembl chr 3:38,013,739...38,052,202 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:17436244 PMID:21356188 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902 		JBrowse link
G FIGLA folliculogenesis specific bHLH transcription factor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar NCBI chr10:69,148,938...69,170,371
Ensembl chr10:69,157,741...69,163,028 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FNDC8 fibronectin type III domain containing 8 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 ClinVar NCBI chr 9:38,232,116...38,240,791
Ensembl chr 9:38,232,117...38,240,791 		JBrowse link
G FOXD1 forkhead box D1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar PMID:24728327 NCBI chr23:35,145,856...35,147,185 JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G GDF9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr11:21,143,982...21,148,945
Ensembl chr11:21,143,975...21,149,825 		JBrowse link
G GPHN gephyrin ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		JBrowse link
G HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:59,388,492...59,400,028
Ensembl chr 2:59,388,494...59,400,003 		JBrowse link
G HFM1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 6:57,403,006...57,541,616
Ensembl chr 6:57,403,471...57,534,615 		JBrowse link
G ID3 inhibitor of DNA binding 3, HLH protein ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KASH5 KASH domain containing 5 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:107,074,010...107,114,460
Ensembl chr 1:107,074,010...107,097,762 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G KRT19 keratin 19 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G LASP1 LIM and SH3 protein 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:23,345,226...23,397,058
Ensembl chr 9:23,347,881...23,396,945 		JBrowse link
G LCP1 lymphocyte cytosolic protein 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr22:4,955,453...5,059,654
Ensembl chr22:4,992,347...5,059,636 		JBrowse link
G LEPROTL1 leptin receptor overlapping transcript like 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr16:34,176,810...34,195,552
Ensembl chr16:34,154,253...34,189,127 		JBrowse link
G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr13:5,670,932...5,754,076
Ensembl chr13:5,674,649...5,744,740 		JBrowse link
G LRRC41 leucine rich repeat containing 41 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr15:14,092,739...14,111,034
Ensembl chr15:14,092,767...14,111,040 		JBrowse link
G MAFG MAF bZIP transcription factor G ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:368,102...373,825
Ensembl chr 9:372,216...372,797 		JBrowse link
G MED28 mediator complex subunit 28 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:62,887,095...62,895,588
Ensembl chr 3:62,890,515...62,895,562 		JBrowse link
G MELK maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr11:52,970,699...53,067,169
Ensembl chr11:52,977,260...53,067,172 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:1756143 PMID:7757073 PMID:8581513 PMID:8797773 PMID:8872463 More... NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MME membrane metalloendopeptidase ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar PMID:25741868 PMID:27588448 PMID:28492532 NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:9845372 PMID:11196167 PMID:19383352 PMID:20052722 PMID:20805886 More... NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:6096739 PMID:7726159 PMID:8613431 PMID:9536098 PMID:9559627 More... NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH4 mutS homolog 4 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 6:70,745,777...70,822,507
Ensembl chr 6:70,746,634...70,823,004 		JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr12:1,221,278...1,243,042 JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:9510473 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10675480 More... NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:37,958,771...38,012,893
Ensembl chr 3:37,960,004...38,011,344 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:9536098 PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563 		JBrowse link
G NBR1 NBR1 autophagy cargo receptor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,926,885...19,959,552
Ensembl chr 9:19,915,973...19,958,789 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995 		JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr25:118,558...130,901 JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:9691142 PMID:10336779 PMID:11857752 PMID:12807981 PMID:15146469 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr28:14,902,212...14,910,437
Ensembl chr28:14,902,706...14,910,395 		JBrowse link
G NOBOX NOBOX oogenesis homeobox ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:17701902 NCBI chr16:5,625,279...5,638,052 JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:114,009,573...114,052,100
Ensembl chr 1:114,009,711...114,018,191 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:9536098 PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745 		JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr  X:91,329,243...91,337,951
Ensembl chr  X:91,329,243...91,337,951 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714 		JBrowse link
G PLK2 polo like kinase 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:45,359,865...45,365,496
Ensembl chr 2:45,360,374...45,367,441 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:24728327 PMID:25741868 NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:7628019 PMID:9536098 PMID:9683794 PMID:11574484 PMID:12208142 More... NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402 		JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 2:58,953,568...58,962,522
Ensembl chr 2:58,950,622...58,962,505 		JBrowse link
G PPP2R2A protein phosphatase 2 regulatory subunit Balpha ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr25:31,196,613...31,282,027
Ensembl chr25:31,197,319...31,281,732 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:9619835 PMID:10076877 PMID:10400993 PMID:11108659 PMID:12938083 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 1:66,596,659...67,022,631
Ensembl chr 1:66,597,563...67,124,540 		JBrowse link
G PUM1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 2:69,907,655...70,044,055
Ensembl chr 2:69,907,735...70,042,680 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:32566746 NCBI chr27:26,234,503...26,257,328
Ensembl chr27:26,234,777...26,257,528 		JBrowse link
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:16385572 PMID:18281469 PMID:19409520 PMID:23555315 PMID:24240112 More... NCBI chr11:20,836,863...20,928,930
Ensembl chr11:20,836,879...20,928,819 		JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers ClinVar PMID:11248061 PMID:17999359 NCBI chr30:7,842,540...7,877,128
Ensembl chr30:7,842,540...7,877,606 		JBrowse link
G RAD51B RAD51 paralog B ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:26898890 PMID:28492532 PMID:32566746 NCBI chr 8:41,779,435...42,357,362
Ensembl chr 8:41,778,714...42,357,298 		JBrowse link
G RAD51C RAD51 paralog C susceptibility ISO ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:12966089 PMID:15170666 PMID:16199547 PMID:17576681 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
G RAD51D RAD51 paralog D susceptibility ISO ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome		 OMIM
ClinVar		 PMID:6329717 PMID:9536098 PMID:10749867 PMID:14704354 PMID:15170666 More... NCBI chr 9:38,242,178...38,259,788
Ensembl chr 9:38,222,051...38,365,621 		JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr15:14,111,168...14,139,819
Ensembl chr15:14,111,157...14,139,301 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 9:51,287,252...51,329,997 JBrowse link
G RECQL RecQ like helicase ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:25945795 PMID:26467025 PMID:27125668 PMID:28492532 More... NCBI chr27:25,590,326...25,636,304
Ensembl chr27:25,590,831...25,636,685 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar PMID:7647787 PMID:7881414 PMID:9727738 PMID:9760196 PMID:10646792 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096 		JBrowse link
G RINT1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:25050558 PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr18:14,843,820...14,877,334
Ensembl chr18:14,843,829...14,877,607 		JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr35:3,367,796...3,407,631
Ensembl chr35:3,263,226...3,405,883 		JBrowse link
G RND2 Rho family GTPase 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar NCBI chr 9:20,037,469...20,041,044
Ensembl chr 9:20,037,718...20,041,631 		JBrowse link
G RPN1 ribophorin I ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr20:2,611,316...2,640,047
Ensembl chr20:2,611,551...2,639,983 		JBrowse link
G SAV1 salvador family WW domain containing protein 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:27,034,606...27,061,926
Ensembl chr 8:27,022,628...27,062,611 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:84,686,505...84,717,579
Ensembl chr 3:84,686,425...84,742,038 		JBrowse link
G SMAD7 SMAD family member 7 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 7:79,706,485...79,734,673
Ensembl chr 7:79,706,705...79,734,749 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr10:20,640,695...20,711,853
Ensembl chr10:20,640,187...20,711,822 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr 9:49,593,740...49,598,279
Ensembl chr 9:49,593,703...49,599,113 		JBrowse link
G SP100 SP100 nuclear antigen ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr25:42,538,428...42,635,825
Ensembl chr25:42,538,571...42,635,649 		JBrowse link
G SPIDR scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure ClinVar NCBI chr35:79,188...503,687
Ensembl chr35:79,185...514,797 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:10429654 PMID:10676634 PMID:11430832 PMID:15800014 PMID:16287113 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024 		JBrowse link
G TDG thymine DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr15:42,493,593...42,516,868
Ensembl chr15:42,493,737...42,515,448 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TES testin LIM domain protein ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr14:55,217,768...55,240,668
Ensembl chr14:55,177,375...55,240,668 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 ClinVar NCBI chr 9:33,174,813...33,289,202
Ensembl chr 9:33,174,814...33,262,870 		JBrowse link
G TFRC transferrin receptor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TG thyroglobulin ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 4:40,816,351...40,818,582
Ensembl chr 4:40,816,467...40,818,723 		JBrowse link
G TMEM106A transmembrane protein 106A ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:19894111 PMID:23996866 PMID:24686251 PMID:28492532 NCBI chr 9:19,917,591...19,926,578
Ensembl chr 9:19,915,973...19,958,789 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome		 ClinVar PMID:1467311 PMID:1565143 PMID:1631137 PMID:1975675 PMID:1978757 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TPM4 tropomyosin 4 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr20:46,354,808...46,376,489
Ensembl chr20:46,355,736...46,376,425 		JBrowse link
G TSHR thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898 		JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr30:8,571,230...8,602,655
Ensembl chr30:8,571,475...8,598,721 		JBrowse link
G UFL1 UFM1 specific ligase 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr12:54,988,200...55,023,414
Ensembl chr12:54,988,264...55,021,626 		JBrowse link
G UNG uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr26:17,900,354...17,911,126
Ensembl chr26:17,901,357...17,911,288 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:65,444,404...65,551,348
Ensembl chr 8:65,443,949...65,551,151 		JBrowse link
G VTI1A vesicle transport through interaction with t-SNAREs 1A ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:23,496,553...23,854,609
Ensembl chr28:23,496,593...23,842,369 		JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr28:30,769,223...30,828,628
Ensembl chr28:30,769,219...30,828,049 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:25741868 PMID:32566746 NCBI chr16:16,402,821...16,429,095
Ensembl chr16:16,402,933...16,429,037 		JBrowse link
G ZAR1L zygote arrest 1 like ISO ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome ClinVar PMID:28492532 PMID:31843900 NCBI chr25:7,799,130...7,807,653
Ensembl chr25:7,799,615...7,856,230 		JBrowse link
Krukenberg carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD44 CD44 molecule ISO protein:increased expression:ovary RGD PMID:16124061 RGD:2289359 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107 		JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKLE2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr26:379,443...405,101
Ensembl chr26:379,346...403,474 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION ClinVar PMID:25741868 NCBI chr  X:107,031,586...107,133,402
Ensembl chr  X:107,034,118...107,133,082 		JBrowse link
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar		 PMID:11835386 PMID:15776425 PMID:16807905 PMID:18263758 PMID:25741868 More... NCBI chr26:6,011,280...6,022,562
Ensembl chr26:6,011,301...6,022,518 		JBrowse link
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy OMIM
ClinVar		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:15054402 PMID:15060152 More... NCBI chr 8:48,110,521...48,117,175
Ensembl chr 8:48,110,050...48,116,686 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter OMIM
ClinVar		 PMID:11835386 PMID:18414213 PMID:19158808 PMID:20301435 PMID:21484434 More... NCBI chr15:15,337,421...15,481,427
Ensembl chr15:15,337,483...15,481,425 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy OMIM
ClinVar		 PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15776425 More... NCBI chr17:21,321,329...21,326,357
Ensembl chr17:21,321,349...21,326,244 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... NCBI chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928 		JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 8:48,123,263...48,153,989
Ensembl chr 8:48,124,105...48,154,102 		JBrowse link
malignant ovarian germ cell neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 PMID:24033266 More... NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:32403198 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
ovarian cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 disease_progression ISO RGD PMID:19603017 RGD:2315556 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility ISO DNA:point mutation:cds:p.E17K (human) OMIM
RGD		 PMID:17611497 RGD:1643334 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ANGPT1 angiopoietin 1 ISO mRNA:decreased expression:ovary RGD PMID:12138242 RGD:2293864 NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618 		JBrowse link
G ANXA7 annexin A7 ISO protein:decreased expression:ovary RGD PMID:17708571 RGD:2292654 NCBI chr 4:23,933,959...23,961,968
Ensembl chr 4:23,934,234...23,961,880 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO RGD PMID:17974506 PMID:19787261 RGD:2315656 RGD:2315663 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G APOB apolipoprotein B severity ISO RGD PMID:9023386 RGD:11354936 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Familial ovarian cancer ClinVar PMID:8659541 PMID:9463314 PMID:9536098 PMID:9872980 PMID:10330348