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GENE - TERM ANNOTATION REPORT

CRRD ID: 14135943
Species: Sus scrofa
CRRD Object: Gene
Symbol: BLM
Name: BLM RecQ like helicase
Acc ID: DOID:2717
Term: Bloom syndrome
Definition: An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Definition Source(s): MESH:D001816, url:http://ghr.nlm.nih.gov/condition/bloom-syndrome "DO", url:https://en.wikipedia.org/wiki/Bloom_syndrome "DO", url:https://www.ncbi.nlm.nih.gov/pubmed/10823897 "DO", url:https://www.ncbi.nlm.nih.gov/pubmed/9482582 "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)
BLM ISORGD:13187957240710OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.