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: Vulvar Neoplasms
Accession: DOID:9005804
browse the term
Definition: Tumors or cancer of the VULVA.
Synonyms: exact_synonym: neoplasm of vulva; vulva neoplasm; vulva neoplasms; vulval neoplasm; vulvar neoplasm; vulvar tumor
primary_id: MESH:D014846
xref: NCI:C3443
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
associated with Papillomavirus Infections;protein:increased expression:vulva
RGD
PMID:16998595 PMID:18192968
RGD:2289673 RGD:2289682
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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CHEK2
checkpoint kinase 2
ISO
DNA:polymorphism:cds:252A>G
RGD
PMID:11875739
RGD:2298483
NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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FHIT
fragile histidine triad diadenosine triphosphatase
disease_progression
ISO
protein:decreased expression:vulva, squamous epithelial cell
RGD
PMID:16608079
RGD:2301231
NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859
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MLH1
mutL homolog 1
ISO
protein:increased expression:vulva
RGD
PMID:15870899
RGD:2293514
NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
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MSH2
mutS homolog 2
ISO
protein:increased expression:vulva
RGD
PMID:15870899
RGD:2293514
NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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TP53
tumor protein p53
ISO
protein:increased expression:vulva
RGD
PMID:16033093 PMID:30514679
RGD:14995938 RGD:2290537
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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TP73
tumor protein p73
ISO
mRNA, protein:splice variant, increased expression:vulva
RGD
PMID:11720444
RGD:2290590
NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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AKT1
AKT serine/threonine kinase 1
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:22685591
RGD:38676500
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human)
RGD
PMID:12543794
RGD:2314696
NCBI chr12:2,305,307...2,307,711
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HLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DRB1*11,DRB1*01,DRB1*13(human)
RGD
PMID:12543794
RGD:2314696
NCBI chr12:2,151,409...2,164,564
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MMP13
matrix metallopeptidase 13
ISO
vulvar squamous cell carcinoma (SCC); mRNA:increased expression:tumor:expressed in 9/12 tumors but not in normal vulvar epithelium, cervical SCCs, or endometrial or ovarian adenocarcinomas
RGD
PMID:10027405
RGD:2293612
NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
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NOS3
nitric oxide synthase 3
disease_progression
ISO
DNA:repeat:intron
RGD
PMID:15196865
RGD:2292078
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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CDC25A
cell division cycle 25A
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
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CDC25B
cell division cycle 25B
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
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CDC25C
cell division cycle 25C
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
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SFN
stratifin
ISO
DNA, mRNA:hypermethylation, decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
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