Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 1311427
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fancl
Name: FA complementation group L
Acc ID: DOID:0111082
Term: Fanconi anemia complementation group L
Definition: A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12973351 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19405097 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Fancl ISOFANCL (Homo sapiens)7240710OMIM  
Fancl ISOFANCL (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fancl ISOFANCL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fanconi anemia complementation group LPMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:34008892 PMID:34308104 PMID:35454841 PMID:9536098
Go Back to source page   Continue to Ontology report