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: Ventricular Dysfunction
Accession: DOID:9007039
browse the term
Definition: A condition in which HEART VENTRICLES exhibit impaired function.
Synonyms: exact_synonym: Ventricular Dysfunctions
primary_id: MESH:D018754 ; RDO:0007211
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Adora1
adenosine A1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15641640
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15641640
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Adrb1
adrenoceptor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14502278
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23500772
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21273767
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Gaa
alpha glucosidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11328962
NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30450786
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Postn
periostin
IDA
RGD
PMID:15381649
RGD:10040999
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20626112
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:increased expression:myocardium (rat)
RGD
PMID:23271280
RGD:7241846
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Adcy5
adenylate cyclase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25193472
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Adora1
adenosine A1 receptor
IEP
associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle
RGD
PMID:17211253
RGD:1625225
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25193472
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688123 PMID:29353218 PMID:30703374
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Ampd1
adenosine monophosphate deaminase 1
susceptibility
ISO
associated with Myocardial Ischemia; DNA:SNP:exon 2:34C>T (human)
RGD
PMID:15309698
RGD:329412474
NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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Apoe
apolipoprotein E
ISO
RGD
PMID:15077085
RGD:11039488
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24358288
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21217071
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Cast
calpastatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34365571
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Ckb
creatine kinase B
ISO
RGD
PMID:12039490
RGD:1598441
NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
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Ckm
creatine kinase, M-type
ISO
RGD
PMID:12039490
RGD:1598441
NCBI chr 1:79,061,390...79,071,721
Ensembl chr 1:79,061,456...79,071,720
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Cs
citrate synthase
treatment
IEP
RGD
PMID:31403269
RGD:243048473
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12926135 PMID:17334414
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cst3
cystatin C
ISO
associated with Myocardial Infarction;protein:increased expression:serum (human)
RGD
PMID:19741512
RGD:2314308
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34310909
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Ephx2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19834332
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Esrra
estrogen related receptor, alpha
ISO
RGD
PMID:21825219
RGD:10401867
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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F2
coagulation factor II, thrombin
severity
ISO
associated with Muscular Dystrophy, Duchenne
RGD
PMID:16122628
RGD:11565083
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11809923
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fndc5
fibronectin type III domain containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:30703374
NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27469509
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2r
insulin-like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36462176
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16286589
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins1
insulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29682576
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11872684
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Itln1
intelectin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23555749
NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35235096
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34648132
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mff
mitochondrial fission factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23867156
NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
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Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29122578
NCBI chr11:16,245,620...16,245,707
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Mir141
microRNA 141
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34289745
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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Mir761
microRNA 761
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23867156
NCBI chr 5:123,776,534...123,776,609
Ensembl chr 5:123,776,534...123,776,609
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29353218
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nnmt
nicotinamide N-methyltransferase
disease_progression
ISO
protein:increased expression: blood serum (human)
RGD
PMID:29872082
RGD:401793725
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
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Nppb
natriuretic peptide B
IEP ISO
associated with Renal Insufficiency; protein:increased expression:blood: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16689991 PMID:22071162
RGD:7247632
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21321305
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31025080
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8763515
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Pln
phospholamban
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14991071
NCBI chr20:32,629,537...32,639,559
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Plpp3
phospholipid phosphatase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28982073
NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35218467
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29753072
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
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Rac1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28710503
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37030624
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt6
sirtuin 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34713381
NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19293248
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tlr4
toll-like receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27442881
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14618274
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Vdac1
voltage-dependent anion channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25488258
NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
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Creb1
cAMP responsive element binding protein 1
treatment
IEP
RGD
PMID:22523357
RGD:155226858
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
associated with Pulmonary Embolism;mRNA:increased expression:heart right ventricle
RGD
PMID:19620882
RGD:5135007
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Ltbp2
latent transforming growth factor beta binding protein 2
IEP
associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat)
RGD
PMID:30213070
RGD:156451373
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Mylk
myosin light chain kinase
ISO
RGD
PMID:20035030
RGD:4891489
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nos3
nitric oxide synthase 3
IMP
associated with Hypertension, Pulmonary
RGD
PMID:16820570
RGD:4892044
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16014188 PMID:19650993
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Ppargc1a
PPARG coactivator 1 alpha
treatment
IEP
RGD
PMID:22523357
RGD:155226858
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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