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GENE - TERM ANNOTATION REPORT
RGD ID:
62052
Species:
Rattus norvegicus
RGD Object:
Gene
Symbol:
Tnni3
Name:
troponin I3, cardiac type
Acc ID:
DOID:0110313
Term:
hypertrophic cardiomyopathy 7
Definition:
A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. (DO)
Definition Source(s):
https://www.ncbi.nlm.nih.gov/pubmed/9241277
"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)
Tnni3
ISO
TNNI3 (Homo sapiens)
7240710
OMIM
Tnni3
ISO
TNNI3 (Homo sapiens)
11554173
CTD
CTD Direct Evidence: marker/mechanism
Tnni3
ISO
TNNI3 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7
PMID:10098965
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PMID:33495596
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PMID:35653365
PMID:35838873
PMID:36252119
PMID:36291626
PMID:36411388
PMID:36981019
PMID:9241277
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