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GENE - TERM ANNOTATION REPORT

RGD ID: 735547
Species: Homo sapiens
RGD Object: Gene
Symbol: MBL2
Name: mannose binding lectin 2
Acc ID: DOID:1485
Term: cystic fibrosis
Definition: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cystic_fibrosis "DO" "DO", http://ghr.nlm.nih.gov/condition/cystic-fibrosis "DO" "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis "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)
MBL2severityIAGP 4889447RGDDNA:polymorphisms:5' utr, exon:multiple (human) 
MBL2severityIEP 4889443RGDprotein:decreased secretion:serum (human) 
MBL2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cystic fibrosisPMID:10071515 PMID:10449435 PMID:15674393 PMID:16912583 PMID:18292811 PMID:20068595 PMID:22323042 PMID:22377282 PMID:22940091 PMID:24753481 PMID:25178872 PMID:25741868 PMID:28492532 PMID:7707811 PMID:8206524
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