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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:Tumor Predisposition Syndrome
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Accession:DOID:9002089 term browser browse the term
Synonyms:exact_synonym: BAP1 Cancer Syndrome;   TPDS
 related_synonym: TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS
 primary_id: OMIM:614327;   RDO:9000846
For additional species annotation, visit the Alliance of Genome Resources.



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Tumor Predisposition Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by OMIM:614327
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Tumor predisposition syndrome
ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18757409 PMID:21874000 More... NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:11857748 PMID:12673801 PMID:12942367 PMID:12955716 PMID:18821011 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:28492532 PMID:30517737 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:10678181 PMID:16944272 PMID:23460398 PMID:24033266 PMID:25741868 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:17200668 PMID:24136930 PMID:24763289 PMID:25099575 PMID:25741868 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:20487569 PMID:25318351 PMID:25741868 PMID:25980754 PMID:27064304 More... NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of cellular proliferation 7088
      Tumor Predisposition Syndrome 6
Path 2
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Pathologic Processes 6851
        Disease Attributes 672
          Disease Susceptibility 166
            Genetic Predisposition to Disease 40
              Tumor Predisposition Syndrome 6
paths to the root