RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Heart Injuries
Accession: DOID:9007588
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Definition: General or unspecified injuries to the heart.
Synonyms: exact_synonym: Heart Injury; Traumatic Cardiac Rupture; Traumatic Cardiac Ruptures; Traumatic Heart Rupture; Traumatic Heart Ruptures
primary_id: MESH:D006335
xref: EFO:0009506
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23500772
NCBI chr26:9,319,109...9,361,021
G
B9D2
B9 domain containing 2
ameliorates
ISO
associated with obesity
RGD
PMID:32084395
RGD:242905211
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
G
FIS1
fission, mitochondrial 1
ISO
mRNA, protein:increased expression:heart (rat)
RGD
PMID:25677476
RGD:12437078
NCBI chr 6:8,642,014...8,645,812
Ensembl chr 6:8,642,039...8,648,851
G
IL1B
interleukin 1 beta
ameliorates
ISO
protein:increased expression:spinal cord associated with obesity
RGD
PMID:17719662 PMID:32084395
RGD:242905211 RGD:7401227
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
G
IL6
interleukin 6
ameliorates
ISO
associated with obesity
RGD
PMID:32084395
RGD:242905211
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
MYL1
myosin light chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19854236
NCBI chr37:18,143,644...18,168,208
Ensembl chr37:18,143,673...18,168,187
G
OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
mRNA, protein:increased expression:heart (rat)
RGD
PMID:25677476
RGD:12437078
NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
G
TNF
tumor necrosis factor
ameliorates
ISO
associated with obesity
RGD
PMID:32084395
RGD:242905211
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
G
TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19854236
NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CCN1
cellular communication network factor 1
ameliorates
ISO
RGD
PMID:23329650
RGD:329845572
NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994
G
MFN1
mitofusin 1
ISO
mRNA, protein:increased expression:heart (rat)
RGD
PMID:25677476
RGD:12437078
NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994
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