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GENE - TERM ANNOTATION REPORT

RGD ID: 8904505
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Fancf
Name: FA complementation group F
Acc ID: DOID:13636
Term: Fanconi anemia
Definition: A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Fanconi_anemia "DO" "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO" "DO", http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "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)
Fancf ISOFANCF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fanconi anemiaPMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 PMID:18271933 PMID:24728327 PMID:25741868 PMID:27714961 PMID:28259476 PMID:28492532 PMID:30256826 PMID:30262796 PMID:30995915 PMID:31882575 PMID:34117267 PMID:9382107
Fancf ISOFANCF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopeniaPMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31882575 PMID:34117267 PMID:9382107
Fancf ISOFANCF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemiaPMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31882575 PMID:34117267 PMID:9382107
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