Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Fanconi anemia
go back to main search page
Accession:DOID:13636 term browser browse the term
Definition:Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Synonyms:exact_synonym: Fanconi Anemias;   Fanconi Hypoplastic Anemia;   Fanconi Pancytopenia;   Fanconi Panmyelopathy;   Fanconi anaemia;   Fanconi's anaemia;   Fanconi's anemia
 primary_id: MESH:D005199
 alt_id: RDO:0003319
 xref: GARD:6425;   ICD10CM:D61.09;   NCI:C62505;   OMIM:PS227650;   ORDO:84
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants       view all columns           Sort by:
 
Fanconi anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aopep aminopeptidase O (putative) JBrowse link NW_004955422 21,680,488 22,020,935 RGD:9068941
G Brca2 BRCA2 DNA repair associated JBrowse link NW_004955431 13,449,287 13,526,878 RGD:9068941
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link NW_004955451 2,705,834 2,820,610 RGD:9068941
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link NW_004955561 1,545,921 1,554,423 RGD:9068941
G Fanca FA complementation group A JBrowse link NW_004955541 3,272,936 3,320,229 RGD:9068941
G Fancb FA complementation group B JBrowse link NW_004955519 3,337,138 3,364,963 RGD:9068941
G Fancc FA complementation group C JBrowse link NW_004955422 22,031,825 22,246,478 RGD:9068941
G Fancd2 FA complementation group D2 JBrowse link NW_004955561 1,460,080 1,538,026 RGD:9068941
G Fancd2os FANCD2 opposite strand JBrowse link NW_004955561 1,538,960 1,542,130 RGD:9068941
G Fance FA complementation group E JBrowse link NW_004955437 3,369,127 3,382,072 RGD:9068941
G Fancf FA complementation group F JBrowse link NW_004955476 3,067,491 3,069,637 RGD:9068941
G Fancg FA complementation group G JBrowse link NW_004955472 1,097,986 1,105,836 RGD:9068941
G Fanci FA complementation group I JBrowse link NW_004955416 15,788,812 15,857,933 RGD:9068941
G Fancl FA complementation group L JBrowse link NW_004955424 25,251,701 25,307,236 RGD:9068941
G Fancm FA complementation group M JBrowse link NW_004955409 16,751,658 16,809,352 RGD:9068941
G Flt3lg fms related receptor tyrosine kinase 3 ligand JBrowse link NW_004955559 1,364,056 1,371,245 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Palb2 partner and localizer of BRCA2 JBrowse link NW_004955493 2,149,053 2,175,482 RGD:9068941
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004955416 15,773,005 15,788,736 RGD:9068941
G Prf1 perforin 1 JBrowse link NW_004955437 20,700,912 20,705,076 RGD:9068941
G Ptch1 patched 1 JBrowse link NW_004955422 22,362,330 22,418,062 RGD:9068941
G Rad51c RAD51 paralog C JBrowse link NW_004955451 4,053,195 4,178,226 RGD:9068941
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link NW_004955442 13,765,660 13,792,106 RGD:9068941
G Spire2 spire type actin nucleation factor 2 JBrowse link NW_004955541 3,341,705 3,359,646 RGD:9068941
G Tcf25 transcription factor 25 JBrowse link NW_004955541 3,362,665 3,387,506 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Vcp valosin containing protein JBrowse link NW_004955472 1,111,649 1,124,076 RGD:9068941
G Vhl von Hippel-Lindau tumor suppressor JBrowse link NW_004955561 1,573,525 1,578,295 RGD:9068941
G Vrk2 VRK serine/threonine kinase 2 JBrowse link NW_004955424 25,307,221 25,397,900 RGD:9068941
G Znf276 zinc finger protein 276 JBrowse link NW_004955541 3,259,945 3,272,990 RGD:9068941
Fanconi anemia complementation group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aopep aminopeptidase O (putative) JBrowse link NW_004955422 21,680,488 22,020,935 RGD:9068941
G Brca1 BRCA1 DNA repair associated JBrowse link NW_004955451 16,819,463 16,870,780 RGD:9068941
G Fanca FA complementation group A JBrowse link NW_004955541 3,272,936 3,320,229 RGD:7240710
G Fancb FA complementation group B JBrowse link NW_004955519 3,337,138 3,364,963 RGD:9068941
G Fancc FA complementation group C JBrowse link NW_004955422 22,031,825 22,246,478 RGD:9068941
G Fancd2 FA complementation group D2 JBrowse link NW_004955561 1,460,080 1,538,026 RGD:9068941
G Fancd2os FANCD2 opposite strand JBrowse link NW_004955561 1,538,960 1,542,130 RGD:9068941
G Fancg FA complementation group G JBrowse link NW_004955472 1,097,986 1,105,836 RGD:9068941
G Fanci FA complementation group I JBrowse link NW_004955416 15,788,812 15,857,933 RGD:9068941
G Fancl FA complementation group L JBrowse link NW_004955424 25,251,701 25,307,236 RGD:9068941
G Fancm FA complementation group M JBrowse link NW_004955409 16,751,658 16,809,352 RGD:9068941
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link NW_004955442 13,765,660 13,792,106 RGD:9068941
G Vrk2 VRK serine/threonine kinase 2 JBrowse link NW_004955424 25,307,221 25,397,900 RGD:9068941
G Znf276 zinc finger protein 276 JBrowse link NW_004955541 3,259,945 3,272,990 RGD:9068941
Fanconi anemia complementation group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancb FA complementation group B JBrowse link NW_004955519 3,337,138 3,364,963 RGD:7240710
Fanconi anemia complementation group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aopep aminopeptidase O (putative) JBrowse link NW_004955422 21,680,488 22,020,935 RGD:9068941
G Fancc FA complementation group C JBrowse link NW_004955422 22,031,825 22,246,478 RGD:7240710
Fanconi anemia complementation group D1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2 DNA repair associated JBrowse link NW_004955431 13,449,287 13,526,878 RGD:7240710
Fanconi anemia complementation group D2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancd2 FA complementation group D2 JBrowse link NW_004955561 1,460,080 1,538,026 RGD:7240710
G Fancd2os FANCD2 opposite strand JBrowse link NW_004955561 1,538,960 1,542,130 RGD:9068941
Fanconi anemia complementation group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fance FA complementation group E JBrowse link NW_004955437 3,369,127 3,382,072 RGD:7240710
Fanconi anemia complementation group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancf FA complementation group F JBrowse link NW_004955476 3,067,491 3,069,637 RGD:7240710
Fanconi anemia complementation group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link NW_004955472 1,097,986 1,105,836 RGD:7240710
G Vcp valosin containing protein JBrowse link NW_004955472 1,111,649 1,124,076 RGD:9068941
Fanconi anemia complementation group I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link NW_004955416 15,788,812 15,857,933 RGD:7240710
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004955416 15,773,005 15,788,736 RGD:9068941
Fanconi anemia complementation group J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link NW_004955451 2,705,834 2,820,610 RGD:7240710
Fanconi anemia complementation group L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link NW_004955424 25,251,701 25,307,236 RGD:7240710
G Vrk2 VRK serine/threonine kinase 2 JBrowse link NW_004955424 25,307,221 25,397,900 RGD:9068941
Fanconi Anemia Complementation Group M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancm FA complementation group M JBrowse link NW_004955409 16,751,658 16,809,352 RGD:7240710
Fanconi anemia complementation group N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Palb2 partner and localizer of BRCA2 JBrowse link NW_004955493 2,149,053 2,175,482 RGD:7240710
Fanconi anemia complementation group O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51c RAD51 paralog C JBrowse link NW_004955451 4,053,195 4,178,226 RGD:7240710
Fanconi anemia complementation group P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link NW_004955442 13,765,660 13,792,106 RGD:7240710
Fanconi anemia complementation group Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link NW_004955442 4,833,453 4,861,201 RGD:7240710
Fanconi anemia complementation group R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51 RAD51 recombinase JBrowse link NW_004955416 7,566,715 7,590,628 RGD:7240710
Fanconi Anemia Complementation Group S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1 DNA repair associated JBrowse link NW_004955451 16,819,463 16,870,780 RGD:7240710
Fanconi anemia complementation group T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube2t ubiquitin conjugating enzyme E2 T JBrowse link NW_004955406 38,391,824 38,400,946 RGD:7240710
Fanconi anemia complementation group U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc2 X-ray repair cross complementing 2 JBrowse link NW_004955491 6,579,443 6,629,410 RGD:7240710
Fanconi anemia complementation group V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mad2l2 mitotic arrest deficient 2 like 2 JBrowse link NW_004955486 2,191,903 2,197,193 RGD:7240710
Fanconi Anemia Complementation Group W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rfwd3 ring finger and WD repeat domain 3 JBrowse link NW_004955484 2,824,057 2,857,321 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11744
    Nutritional and Metabolic Diseases 3337
      disease of metabolism 3337
        DNA Repair-Deficiency Disorders 193
          Fanconi anemia 38
            Fanconi Anemia Complementation Group M 1
            Fanconi Anemia Complementation Group S 1
            Fanconi Anemia Complementation Group W 1
            Fanconi anemia complementation group A + 14
            Fanconi anemia complementation group B 1
            Fanconi anemia complementation group C 2
            Fanconi anemia complementation group D1 1
            Fanconi anemia complementation group D2 2
            Fanconi anemia complementation group E 1
            Fanconi anemia complementation group F 1
            Fanconi anemia complementation group G 2
            Fanconi anemia complementation group I 2
            Fanconi anemia complementation group J 1
            Fanconi anemia complementation group L 2
            Fanconi anemia complementation group N 1
            Fanconi anemia complementation group O 1
            Fanconi anemia complementation group P 1
            Fanconi anemia complementation group Q 1
            Fanconi anemia complementation group R 1
            Fanconi anemia complementation group T 1
            Fanconi anemia complementation group U 1
            Fanconi anemia complementation group V 1
            Milner Khallouf Gibson Syndrome 0
Path 2
Term Annotations click to browse term
  disease 11744
    disease of anatomical entity 11304
      Hemic and Lymphatic Diseases 1692
        hematopoietic system disease 1360
          bone marrow disease 390
            Bone Marrow Failure Disorders 139
              aplastic anemia 130
                congenital hypoplastic anemia 98
                  Fanconi anemia 38
                    Fanconi Anemia Complementation Group M 1
                    Fanconi Anemia Complementation Group S 1
                    Fanconi Anemia Complementation Group W 1
                    Fanconi anemia complementation group A + 14
                    Fanconi anemia complementation group B 1
                    Fanconi anemia complementation group C 2
                    Fanconi anemia complementation group D1 1
                    Fanconi anemia complementation group D2 2
                    Fanconi anemia complementation group E 1
                    Fanconi anemia complementation group F 1
                    Fanconi anemia complementation group G 2
                    Fanconi anemia complementation group I 2
                    Fanconi anemia complementation group J 1
                    Fanconi anemia complementation group L 2
                    Fanconi anemia complementation group N 1
                    Fanconi anemia complementation group O 1
                    Fanconi anemia complementation group P 1
                    Fanconi anemia complementation group Q 1
                    Fanconi anemia complementation group R 1
                    Fanconi anemia complementation group T 1
                    Fanconi anemia complementation group U 1
                    Fanconi anemia complementation group V 1
                    Milner Khallouf Gibson Syndrome 0
paths to the root

NHLBI Logo

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