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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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
Hfe
severity
ISO
HFE (Homo sapiens)
9068941
RGD
DNA:missense mutations: :p.H63D, p.C282Y (human)
PMID:30291871
REF_RGD_ID:14701045
Hfe
ISO
HFE (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Cystic fibrosis
PMID: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
ISO
HFE (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Cystic fibrosis
PMID: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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