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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:uterine benign neoplasm
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Accession:DOID:0060095 term browser browse the term
Definition:A female reproductive organ benign neoplasm that is located_in the uterus. (DO)
Synonyms:primary_id: RDO:9002424
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
endometrial hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:endometrium RGD PMID:16803539 RGD:2298940 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Ca9 carbonic anhydrase 9 ISO protein:altered localization:membrane, endometrium RGD PMID:17452774 RGD:2298945 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Cdc25b cell division cycle 25B ISO protein:increased expression:endometrium RGD PMID:14559803 RGD:4105451 NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
JBrowse link
G Cdc25c cell division cycle 25C ISO RGD PMID:12931023 RGD:4105452 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22064387 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Csrp1 cysteine and glycine-rich protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr13:47,158,171...47,179,388
Ensembl chr13:47,167,789...47,179,384
JBrowse link
G Ddx1 DEAD-box helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248470 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365
JBrowse link
G H19 H19, imprinted maternally expressed transcript (non-protein coding) ISO mRNA:altered localization:endometrium RGD PMID:15228427 RGD:2306178 NCBI chr 1:197,730,698...197,733,374 JBrowse link
G Jup junction plakoglobin ISO protein:decreased expression:endometrium RGD PMID:12635138 RGD:2301747 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:19419940 RGD:2314912 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO protein:increased expression:endometrium RGD PMID:17352221 RGD:2298522 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402032 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:endometrium RGD PMID:15536334 RGD:2292562 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO associated with Endometrial Neoplasms;protein:increased expression:endometrium RGD PMID:16080017 RGD:2315043 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Tff1 trefoil factor 1 ISO protein:increased expression:endometrium RGD PMID:9221798 RGD:2298572 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:195,930,165...195,935,072
Ensembl chr 1:195,931,411...195,935,040
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      reproductive system disease 2735
        reproductive organ benign neoplasm 29
          female reproductive organ benign neoplasm 26
            uterine benign neoplasm 25
              adenomyoma of uterine corpus + 0
              cervical benign neoplasm + 0
              chorioangioma 0
              endometrial hyperplasia 16
              endometrial stromal nodule 0
              myoma + 1
              uterine corpus adenofibroma 0
              uterine corpus adenomatoid tumor 0
              uterine corpus bizarre leiomyoma 0
              uterine corpus cellular leiomyoma + 0
              uterine corpus leiomyomatosis + 0
              uterine fibroid + 8
              uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2044
          Female Urogenital Diseases 1739
            female reproductive system disease 1735
              Female Genital Neoplasms 702
                Uterine Neoplasms 436
                  uterine benign neoplasm 25
                    adenomyoma of uterine corpus + 0
                    cervical benign neoplasm + 0
                    chorioangioma 0
                    endometrial hyperplasia 16
                    endometrial stromal nodule 0
                    myoma + 1
                    uterine corpus adenofibroma 0
                    uterine corpus adenomatoid tumor 0
                    uterine corpus bizarre leiomyoma 0
                    uterine corpus cellular leiomyoma + 0
                    uterine corpus leiomyomatosis + 0
                    uterine fibroid + 8
                    uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease 0
paths to the root