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GENE - TERM ANNOTATION REPORT

CRRD ID: 9009966
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Palb2
Name: partner and localizer of BRCA2
Acc ID: DOID:13636
Term: Fanconi anemia
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)
Definition Source(s): MESH:D005199, url:http://en.wikipedia.org/wiki/Fanconi_anemia "DO", url:http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO", url:http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "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)
Palb2 ISORGD:115598219068941ClinVarClinVar Annotator: match by term: Fanconi anemia

PMID:26467025, PMID:28492532
Palb2 ISORGD:85915059068941ClinVarClinVar Annotator: match by term: Fanconi anemia

PMID:17200668, PMID:18302019, PMID:25741868, PMID:26467025, PMID:26564480, PMID:28492532
Palb2 ISORGD:86983669068941ClinVarClinVar Annotator: match by term: Fanconi anemia

PMID:25741868, PMID:26467025, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.