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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:9001329 term browser browse the term
Synonyms:exact_synonym: TPDS


show annotations for term's descendants           Sort by:
Tumor Predisposition Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Tumor predisposition syndrome ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:25787093 PMID:26409435 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
Li-Fraumeni syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL		 CTD
OMIM
ClinVar		 PMID:914197 PMID:2936834 PMID:3313277 PMID:9536098 PMID:10617473 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar		 PMID:25741868 PMID:36322655 NCBI chr12:19,434,782...19,744,574
Ensembl chr12:14,320,892...14,630,703 		JBrowse link
rhabdoid tumor predisposition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome ClinVar PMID:28492532 NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
rhabdoid tumor predisposition syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
rhabdoid tumor predisposition syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8269278 PMID:9536098 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		JBrowse link
Tumor Predisposition Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar
OMIM		 PMID:1189319 PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,462,419...6,523,545
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility ISO ClinVar Annotator: match by term: Tumor predisposition syndrome 2 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of cellular proliferation 7891
      Tumor Predisposition Syndrome 14
        Li-Fraumeni syndrome 2 1
        Tumor Predisposition Syndrome 1 2
        Tumor Predisposition Syndrome 2 1
        mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 1
        rhabdoid tumor predisposition syndrome + 9
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Pathologic Processes 8330
        Disease Attributes 901
          Disease Susceptibility 188
            Genetic Predisposition to Disease 58
              Tumor Predisposition Syndrome 14
                Li-Fraumeni syndrome 2 1
                Tumor Predisposition Syndrome 1 2
                Tumor Predisposition Syndrome 2 1
                mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 1
                rhabdoid tumor predisposition syndrome + 9
paths to the root