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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
 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:8502512, PMID:8896563, PMID:8896564, PMID:9371798, PMID:9399890, PMID:9711872, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, 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:21568838, PMID:21659346, PMID:22778927, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24728327, PMID:24989076, PMID:25168418, PMID:25239263, PMID:25288723, PMID:25525159, 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: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, PMID:30311386 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: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:28767289, PMID:30031030, 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 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:9399890, PMID:10521298, PMID:11091222, PMID:12444097, PMID:15059067, PMID:15523645, PMID:15643609, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:21273304, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, 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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        DNA Repair-Deficiency Disorders 258
          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 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              aplastic anemia 150
                congenital hypoplastic anemia 107
                  Fanconi anemia 43
                    Fanconi anemia complementation group A 14
                      Estren-Dameshek Variant of Fanconi Anemia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.