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Fanconi anemia complementation group L - 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 L
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Accession:DOID:0111082 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: FANCL;   FANCL-RELATED CONDITION
 primary_id: MIM:614083
 xref: NCI:C164677

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Fanconi anemia complementation group L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fancl FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chrNW_004624833:3,603,712...3,692,540
Ensembl chrNW_004624833:3,603,383...3,663,572 		JBrowse link
G G FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356 		JBrowse link
G P FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G S Fancl FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976 		JBrowse link
G D FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G B FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496 		JBrowse link
G C Fancl FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		JBrowse link
G R Fancl FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G M Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G H FANCL FA complementation group L IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group L
ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L		 OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G N Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chrNW_004624833:3,663,606...3,778,598
Ensembl chrNW_004624833:3,663,641...3,776,404 		JBrowse link
G G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr14:48,803,149...48,909,144
Ensembl chr14:48,798,499...48,906,712 		JBrowse link
G P VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980 		JBrowse link
G S Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chrNW_004936491:3,956,171...4,057,753
Ensembl chrNW_004936491:3,958,588...4,057,738 		JBrowse link
G D VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189 		JBrowse link
G B VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr2A:58,158,347...58,271,245
Ensembl chr2A:59,305,233...59,419,895 		JBrowse link
G C Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348 		JBrowse link
G R Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527 		JBrowse link
G M Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G H VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 2:57,907,592...58,159,920
Ensembl chr 2:57,907,629...58,159,920 		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 L 20
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 L 20
paths to the root