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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 A
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Accession:DOID:0111095 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: FANCA;   FANCONI ANEMIA, GROUP A
 primary_id: OMIM:227650
 alt_id: RDO:9002144
 xref: NCI:C125702
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 PMID:26689913 PMID:28492532 PMID:30031030 PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 PMID:17574969 PMID:17924331 PMID:19200354 PMID:19563646 PMID:20516115 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21702907 PMID:21965345 PMID:21990134 PMID:22889855 PMID:23867111 PMID:24055113 PMID:24569164 PMID:25472942 PMID:25741868 PMID:26467025 PMID:28265380 PMID:28324225 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28831036 PMID:29712865 PMID:30103829 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar
OMIM
PMID:1792455 PMID:2339692 PMID:2472832 PMID:08896563 PMID:08896564 PMID:9371798 PMID:09399890 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10431244 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16397136 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:19423727 PMID:20435624 PMID:21273304 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24704046 PMID:24728327 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25741868 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26296701 PMID:26492932 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:27041517 PMID:27701467 PMID:27854218 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28600779 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28973083 PMID:29093742 PMID:29098742 PMID:29269525 PMID:29904161 PMID:30032139 PMID:30086788 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:14695169 PMID:14726700 PMID:15695377 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26689913 PMID:26740942 PMID:27153395 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29360161 PMID:29643063 PMID:29719599 PMID:30031030 PMID:30306255 PMID:32566746 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:28492532 PMID:28837162 PMID:29231814 PMID:29351780 PMID:30075111 PMID:31700994 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:28717660 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:09721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12955722 PMID:15059067 PMID:15522956 PMID:15523645 PMID:15643609 PMID:16084127 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:21273304 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:26296701 PMID:26689913 PMID:27041517 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28717661 PMID:28767289 PMID:28864460 PMID:29098742 PMID:29904161 PMID:30032139 NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hypoplastic anemia 110
        Fanconi anemia 43
          Fanconi anemia complementation group A 14
            Estren-Dameshek Variant of Fanconi Anemia 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          bone marrow disease 481
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                congenital hypoplastic anemia 110
                  Fanconi anemia 43
                    Fanconi anemia complementation group A 14
                      Estren-Dameshek Variant of Fanconi Anemia 0
paths to the root