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Fanconi anemia complementation group D1 - Ontology Report - Rat Genome Database

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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:Fanconi anemia complementation group D1
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Accession:DOID:0111089 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: FAD1;   FANCD1
 primary_id: MESH:C563980
 alt_id: MIM:605724
 xref: NCI:C125705

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Fanconi anemia complementation group D1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213 		JBrowse link
G P BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793 		JBrowse link
G S Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G D BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G B BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G C Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G R Brca2 BRCA2, DNA repair associated ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
OMIM:605724		 CTD
ClinVar
OMIM
MouseDO		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567 		JBrowse link
G M Brca2 breast cancer 2, early onset IAGP
ISO		 OMIM:605724
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
OMIM
CTD		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G H BRCA2 BRCA2 DNA repair associated IAGP
ISS
EXP		 ClinVar Annotator: match by term: Fanconi anemia complementation group D1
OMIM:605724
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G H LOC106721785 BRCA2 promoter/silencer region IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D1 ClinVar PMID:9536098 PMID:12750298 PMID:17576681 PMID:24395671 PMID:25741868 More... NCBI chr13:32,314,559...32,315,789 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital hypoplastic anemia 3133
        Fanconi anemia 1129
          Fanconi anemia complementation group D1 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Hemic and Lymphatic Diseases 46557
        hematopoietic system disease 41379
          anemia 8850
            normocytic anemia 7755
              aplastic anemia 3582
                congenital hypoplastic anemia 3133
                  Fanconi anemia 1129
                    Fanconi anemia complementation group D1 11
paths to the root