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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, Left
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Accession:DOID:9001747 term browser browse the term
Definition:A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.
Synonyms:exact_synonym: Left Ventricular Dysfunctions
 primary_id: MESH:D018487;   RDO:0007210


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Ventricular Dysfunction, Left term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:25193472 NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343 		JBrowse link
G Adora1 adenosine A1 receptor IEP associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle RGD PMID:17211253 RGD:1625225 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:48,213,273...48,247,190 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25193472 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:24688123 PMID:29353218 PMID:30703374 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:39477182 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		JBrowse link
G 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 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:15077085 RGD:11039488 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24358288 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18418421 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21217071 NCBI chr12:39,733,519...39,782,942
Ensembl chr12:39,733,458...39,782,934 		JBrowse link
G Cast calpastatin ISO CTD Direct Evidence: therapeutic CTD PMID:34365571 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180 		JBrowse link
G Ckb creatine kinase B ISO RGD PMID:12039490 RGD:1598441 NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:136,549,844...136,553,478 		JBrowse link
G Ckm creatine kinase, M-type ISO RGD PMID:12039490 RGD:1598441 NCBI chr 1:88,189,382...88,199,717
Ensembl chr 1:88,189,485...88,199,719 		JBrowse link
G Cs citrate synthase treatment IEP RGD PMID:31403269 RGD:243048473 NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12926135 PMID:17334414 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Cst3 cystatin C ISO associated with Myocardial Infarction;protein:increased expression:serum (human) RGD PMID:19741512 RGD:2314308 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:34310909 NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:152,060,780...152,073,627 		JBrowse link
G Ephx2 epoxide hydrolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19834332 NCBI chr15:44,465,447...44,503,157
Ensembl chr15:44,465,448...44,503,160 		JBrowse link
G Esrra estrogen related receptor, alpha ISO RGD PMID:21825219 RGD:10401867 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:213,533,310...213,543,811 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO associated with Muscular Dystrophy, Duchenne RGD PMID:16122628 RGD:11565083 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809923 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:146,765,951...146,775,611
Ensembl chr 5:146,751,416...146,778,540 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36462176 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16286589 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ins1 insulin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:29682576 NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11872684 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Itln1 intelectin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23555749 NCBI chr13:86,464,641...86,490,655
Ensembl chr13:86,464,669...86,490,651 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35235096 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34648132 NCBI chr 2:214,215,165...214,231,412
Ensembl chr 2:214,215,165...214,231,412 		JBrowse link
G Mff mitochondrial fission factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23867156 NCBI chr 9:91,455,931...91,484,171
Ensembl chr 9:91,455,871...91,484,171 		JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:29,732,572...29,732,659 JBrowse link
G Mir141 microRNA 141 ISO CTD Direct Evidence: therapeutic CTD PMID:34289745 NCBI chr 4:159,209,525...159,209,618 JBrowse link
G Mir761 microRNA 761 ISO CTD Direct Evidence: therapeutic CTD PMID:23867156 NCBI chr 5:123,776,534...123,776,609
Ensembl chr 5:129,005,205...129,005,280 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:29353218 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Nnmt nicotinamide N-methyltransferase disease_progression ISO protein:increased expression: blood serum (human) RGD PMID:29872082 RGD:401793725 NCBI chr 8:57,820,156...57,851,301
Ensembl chr 8:57,825,464...57,843,174 		JBrowse link
G 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 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21321305 NCBI chr19:47,619,853...47,964,089
Ensembl chr19:47,619,853...47,964,078 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: therapeutic CTD PMID:31025080 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:8763515 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:14991071 NCBI chr20:33,166,512...33,182,241
Ensembl chr20:33,172,494...33,182,241 		JBrowse link
G Plpp3 phospholipid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 5:125,156,000...125,231,119
Ensembl chr 5:125,155,945...125,235,667 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr 1:205,982,279...205,987,361
Ensembl chr 1:205,982,258...205,987,359 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29753072 NCBI chr 5:125,036,945...125,109,010
Ensembl chr 5:125,042,179...125,108,324 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28710503 NCBI chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37030624 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000 		JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:34713381 NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,732,974...8,738,542 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27442881 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:14618274 NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25488258 NCBI chr10:37,029,377...37,060,542
Ensembl chr10:37,023,145...37,060,541 		JBrowse link
Takotsubo Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:increased expression:myocardium (rat) RGD PMID:23271280 RGD:7241846 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      thoracic disease 4057
        heart disease 3483
          Ventricular Dysfunction 76
            Ventricular Dysfunction, Left 63
              Takotsubo Cardiomyopathy + 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            Ventricular Dysfunction 76
              Ventricular Dysfunction, Left 63
                Takotsubo Cardiomyopathy + 1
paths to the root