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: female reproductive organ benign neoplasm
Accession: DOID:0060086
browse the term
Definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)
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Foxo3
forkhead box O3
ISO
OMIM:166950
MouseDO
NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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Birc5
baculoviral IAP repeat containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
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Ca9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
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Cdc25b
cell division cycle 25B
ISO
protein:increased expression:endometrium
RGD
PMID:14559803
RGD:4105451
NCBI chrNW_004936485:14,897,050...14,914,034
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Cdc25c
cell division cycle 25C
ISO
RGD
PMID:12931023
RGD:4105452
NCBI chrNW_004936531:7,471,722...7,499,781
Ensembl chrNW_004936531:7,471,722...7,499,766
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Cdkn1c
cyclin dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22064387
NCBI chrNW_004936794:1,023,891...1,025,470
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Celsr2
cadherin EGF LAG seven-pass G-type receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chrNW_004936704:779,528...803,860
Ensembl chrNW_004936704:778,480...803,886
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Csrp1
cysteine and glycine rich protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chrNW_004936567:2,946,721...2,967,988
Ensembl chrNW_004936567:2,946,565...2,968,010
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Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chrNW_004936493:14,884,532...14,918,621
Ensembl chrNW_004936493:14,884,442...14,918,823
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Jup
junction plakoglobin
ISO
protein:decreased expression:endometrium
RGD
PMID:12635138
RGD:2301747
NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19419940
RGD:2314912
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Mmp7
matrix metallopeptidase 7
ISO
protein:increased expression:endometrium
RGD
PMID:17352221
RGD:2298522
NCBI chrNW_004936551:5,388,456...5,395,071
Ensembl chrNW_004936551:5,388,459...5,395,071
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16402032
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:endometrium
RGD
PMID:15536334
RGD:2292562
NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543
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Skp2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chrNW_004936518:5,635,856...5,664,057
Ensembl chrNW_004936518:5,637,331...5,664,778
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial hyperplasia without atypia
ClinVar
PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908253
NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chrNW_004936530:2,217,713...2,224,070
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Bet1l
Bet1 golgi vesicular membrane trafficking protein like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936888:42,646...56,589
Ensembl chrNW_004936888:52,019...56,776
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Col4a1
collagen type IV alpha 1 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
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Col4a2
collagen type IV alpha 2 chain
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377
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Dapk1
death associated protein kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chrNW_004936526:8,936,096...8,965,155
Ensembl chrNW_004936526:8,935,991...8,965,367
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Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chrNW_004936545:3,944,419...3,958,289
Ensembl chrNW_004936545:3,944,419...4,064,193
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Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936525:9,064,442...9,125,972
Ensembl chrNW_004936525:9,064,466...9,122,635
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195
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Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chrNW_004936572:165,985...1,110,936
Ensembl chrNW_004936572:165,987...1,110,587
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Nuak1
NUAK family kinase 1
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chrNW_004936492:8,710,039...8,774,870
Ensembl chrNW_004936492:8,710,039...8,775,112
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165
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Tsc2
TSC complex subunit 2
ISO
OMIM:150699
MouseDO
NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363
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Bcl2l1
BCL2 like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chrNW_004936485:18,654,046...18,707,324
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all