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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:angiomyolipoma
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Accession:DOID:3314 term browser browse the term
Definition:A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. (DO)
Synonyms:exact_synonym: angiomyolipomas
 primary_id: MESH:D018207
 xref: NCI:C3734
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA-glycosylase 1 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 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		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 chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
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 chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912 		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 chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		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 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of cellular proliferation 7493
      benign neoplasm 2217
        cell type benign neoplasm 1956
          angiomyolipoma 7
            benign mesothelioma + 1
            epithelioid type angiomyolipoma 0
            hepatic angiomyolipoma 1
            kidney angiomyolipoma + 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of cellular proliferation 7493
      Neoplasms by Histologic Type 5224
        Connective and Soft Tissue Neoplasms 1871
          Connective Tissue Neoplasms 1753
            connective tissue cancer 780
              perivascular tumor 33
                perivascular epithelioid cell tumor 25
                  angiomyolipoma 7
                    benign mesothelioma + 1
                    epithelioid type angiomyolipoma 0
                    hepatic angiomyolipoma 1
                    kidney angiomyolipoma + 1
paths to the root