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GENE - TERM ANNOTATION REPORT

RGD ID: 8731107
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Hfe
Name: homeostatic iron regulator
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)
HfeseverityISOHFE (Homo sapiens)9068941RGDDNA:missense mutations: :p.H63D, p.C282Y (human)PMID:30291871 REF_RGD_ID:14701045
Hfe ISOHFE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cystic fibrosisPMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220
Hfe ISOHFE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cystic fibrosisPMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16880463 PMID:16979952 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:26975792 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220
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