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

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 N
go back to main search page
Accession:DOID:0111094 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: FANCN
 primary_id: MESH:C563657
 alt_id: OMIM:610832
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fanconi anemia complementation group N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by OMIM:610832
ClinVar Annotator: match by term: Fanconi anemia, complementation group N
OMIM
ClinVar
PMID:16793542, PMID:17200668, PMID:17200671, PMID:17200672, PMID:17287723, PMID:17420451, PMID:17924555, PMID:18288683, PMID:18302019, PMID:18446436, PMID:18987736, PMID:19264984, PMID:19333784, PMID:19369211, PMID:19584259, PMID:19609323, PMID:19635604, PMID:19763884, PMID:20091115, PMID:20122277, PMID:20180015, PMID:20412113, PMID:20582465, PMID:20589654, PMID:20722467, PMID:20852946, PMID:20927582, PMID:21113654, PMID:21165770, PMID:21285249, PMID:21356067, PMID:21365267, PMID:21409391, PMID:21618343, PMID:21932393, PMID:22052327, PMID:22241545, PMID:22310028, PMID:22692731, PMID:22995991, PMID:23341105, PMID:23448497, PMID:23555315, PMID:23824750, PMID:23935836, PMID:23977390, PMID:24033266, PMID:24141787, PMID:24206657, PMID:24415441, PMID:24448499, PMID:24556926, PMID:24728327, PMID:24949998, PMID:25099575, PMID:25117502, PMID:25186627, PMID:25225577, PMID:25356972, PMID:25447460, PMID:25452441, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25575445, PMID:25666743, PMID:25741868, PMID:25794774, PMID:25980754, PMID:26094658, PMID:26283626, PMID:26315354, PMID:26411315, PMID:26467025, PMID:26489409, PMID:26534844, PMID:26564480, PMID:26649820, PMID:26681312, PMID:26689913, PMID:26692951, PMID:26740942, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26976419, PMID:26990772, PMID:27067391, PMID:27099641, PMID:27106063, PMID:27153395, PMID:27328445, PMID:27356891, PMID:27397723, PMID:27573125, PMID:27595995, PMID:27616075, PMID:27621404, PMID:27783279, PMID:27829436, PMID:27930734, PMID:27978560, PMID:28008555, PMID:28051113, PMID:28152038, PMID:28279176, PMID:28281021, PMID:28319063, PMID:28380452, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28664506, PMID:28767289, PMID:28779002, PMID:28796317, PMID:28825143, PMID:28873162, PMID:29052111, PMID:29190888, PMID:29263802, PMID:29360161, PMID:29368341, PMID:29522266, PMID:29667044, PMID:29802286, PMID:29909963, PMID:30287823, PMID:30306255, PMID:30982232, PMID:31159747, PMID:31586400, PMID:31636395, PMID:32566746 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            Fanconi anemia complementation group N 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          bone marrow disease 473
            Bone Marrow Failure Disorders 163
              aplastic anemia 151
                congenital hypoplastic anemia 107
                  Fanconi anemia 43
                    Fanconi anemia complementation group N 1
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.