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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:perivascular epithelioid cell tumor
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Accession:DOID:2643 term browser browse the term
Definition:A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002).
Synonyms:exact_synonym: CCMMT;   Clear Cell Myomelanocytic Tumors;   Clear Cell Sugar Tumors;   Clear-Cell Myomelanocytic Tumor;   Clear-Cell Sugar Tumor;   PEComa;   PEComas;   Perivascular Epithelioid Cell Neoplasms;   Perivascular Epithelioid Cell Tumors;   neoplasm with perivascular epithelioid cell differentiation
 primary_id: MESH:D054973
 xref: EFO:1000464;   NCI:C38150
For additional species annotation, visit the Alliance of Genome Resources.


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adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)		 RGD PMID:19265534 PMID:17932460 PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple		 RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426 		JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611 		JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis		 OMIM
CTD
ClinVar
RGD		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:1580521, RGD:11568662 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Connective and Soft Tissue Neoplasms 1921
          perivascular epithelioid cell tumor 25
            angiomyolipoma + 7
            lymphangioleiomyomatosis 21
            uterus perivascular epithelioid cell tumor 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of cellular proliferation 7914
      cancer 5769
        organ system cancer 5529
          cardiovascular cancer 56
            vascular cancer 53
              perivascular tumor 33
                perivascular epithelioid cell tumor 25
                  angiomyolipoma + 7
                  lymphangioleiomyomatosis 21
                  uterus perivascular epithelioid cell tumor 0
paths to the root