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GENE - TERM ANNOTATION REPORT

RGD ID: 2613
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fgg
Name: fibrinogen gamma chain
Acc ID: DOID:9003464
Term: Congenital Dysfibrinogenemia
Definition: A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both.
Definition Source(s): MESH:C562727
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)
Fgg ISOFGG (Homo sapiens)11352672RGDDNA:deletion:intron:IVS9+1delG (human) 
Fgg ISOFGG (Homo sapiens)11352691RGDDNA:missense mutation:exon:p.N308T (c.1001A>C) (human) 
Fgg ISOFGG (Homo sapiens)7240710OMIM  
Fgg ISOFGG (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fgg ISOFGG (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3PMID:10688828 PMID:10911375 PMID:11435303 PMID:15795540 PMID:1733971 PMID:17650452 PMID:17849064 PMID:17938819 PMID:19300242 PMID:19923982 PMID:19949684 PMID:20135062 PMID:21228398 PMID:22836217 PMID:23061815 PMID:2328317 PMID:24033266 PMID:2496144 PMID:25039884 PMID:2512677 PMID:25320241 PMID:25741868 PMID:26105150 PMID:2617471 PMID:28211264 PMID:28492532 PMID:29240685 PMID:29351094 PMID:2971042 PMID:2976995 PMID:30349899 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31352677 PMID:31479941 PMID:3175983 PMID:32852326 PMID:32877852 PMID:3337908 PMID:33443927 PMID:33477601 PMID:34275736 PMID:34355501 PMID:3563970 PMID:35809055 PMID:35853369 PMID:35975558 PMID:37583269 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:7654933
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