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: congestive heart failure
Accession: DOID:6000
browse the term
Definition: A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Synonyms: exact_synonym: CHF; Cardiac Failure; Cardiac Failure Congestive; Congestive heart disease; Heart Decompensation; Heart Failure; Left Sided Heart Failure; Myocardial Failure; Right Sided Heart Failure; Weak heart
narrow_synonym: Chronic Heart Failure
related_synonym: Beta-2-adrenoreceptor agonist, reduced response to; Congestive heart failure and beta-blocker response, modifier of; Congestive heart failure, modifier of
primary_id: MESH:D006333 ; RDO:0005421
xref: ICD10CM:I50 ; ICD10CM:I50.9 ; ICD9CM:428 ; ICD9CM:428.0 ; NCI:C3080 ; NCI:C50577
For additional species annotation, visit the
Alliance of Genome Resources .
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ACAA1
acetyl-CoA acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr23:7,889,481...7,901,324
Ensembl chr23:7,889,500...7,901,229
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ACACA
acetyl-CoA carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892
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ACADS
acyl-CoA dehydrogenase short chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chr26:16,572,936...16,584,760
Ensembl chr26:16,572,947...16,584,194
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ACAN
aggrecan
ISO
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chr 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544
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ACE
angiotensin I converting enzyme
treatment
ISO
associated with Hypertension associated with Myocardial Infarction CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15894569 PMID:18586661 PMID:19620082 PMID:22123369
RGD:12859272 RGD:2325224 RGD:6893472
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ACE2
angiotensin I converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:heart (human)
CTD RGD
PMID:25973029 PMID:32227090
RGD:40818416
NCBI chr X:11,798,839...11,839,591
Ensembl chr X:11,798,839...11,900,594
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ACLY
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 9:20,929,530...20,974,200
Ensembl chr 9:20,929,614...20,973,663
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ACTN2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868
NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic associated with cardiovascular disease; protein:increased expression:plasma
RGD CTD
PMID:18192035 PMID:19367012 PMID:22032915 PMID:26670611
RGD:5686388 RGD:5686806
NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
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ADM
adrenomedullin
ISO
RGD
PMID:12623952
RGD:704370
NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
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ADRA2C
adrenoceptor alpha 2C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of DNA:deletion: :322_325del(human)
CTD ClinVar RGD
PMID:12374873 PMID:17496726
RGD:1300355
NCBI chr 3:60,608,632...60,648,112
Ensembl chr 3:60,646,132...60,647,722
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ADRB1
adrenoceptor beta 1
ISO
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.R389G (human)
RGD ClinVar CTD
PMID:7586371 PMID:10212248 PMID:12374873 PMID:14502278 PMID:15816327 PMID:16844790 PMID:17496726 PMID:19587314 PMID:21516734
RGD:5129119 RGD:737774
NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684
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ADRB2
adrenoceptor beta 2
ISO
protein:altered localization:cardiac muscle cell ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to
RGD ClinVar
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19587314 PMID:20185685
RGD:4144900 RGD:5129119
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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ADRB3
adrenoceptor beta 3
ISO
protein:increased expression:heart ventricle (rat) CTD Direct Evidence: marker/mechanism protein:increased expression:left ventricle, myocardium (human)
RGD CTD
PMID:11273992 PMID:15009959 PMID:17440824 PMID:21549119
RGD:5684398 RGD:5684917
NCBI chr16:27,445,601...27,446,796
Ensembl chr16:27,445,601...27,447,521
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AGER
advanced glycosylation end-product specific receptor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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AGT
angiotensinogen
treatment severity onset
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:polymorphisms: :p.M235T, p.T174M (human)
CTD RGD
PMID:1330361 PMID:12025466 PMID:17145981 PMID:20811386 PMID:21963897 PMID:24465706
RGD:11039412 RGD:1601140 RGD:8549482
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AGTR1
angiotensin II receptor type 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897
RGD:8549482
NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
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AGTR2
angiotensin II receptor type 2
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:18768398 PMID:21963897
RGD:6903846 RGD:8549482
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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AKAP6
A-kinase anchoring protein 6
ISO
RGD
PMID:24812305
RGD:11251930
NCBI chr 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
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ALB
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
RGD
PMID:15623566
RGD:5509787
NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119
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ALOX15
arachidonate 15-lipoxygenase
ISO
associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176 PMID:19546247
RGD:1642301 RGD:5509627
NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868
NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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ANKRD23
ankyrin repeat domain 23
ISO
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chr10:45,128,411...45,134,234
Ensembl chr10:45,117,903...45,132,817
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AOC3
amine oxidase copper containing 3
severity
ISO
protein:increased expression:plasma
RGD
PMID:11052858
RGD:2313827
NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376
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APLN
apelin
ISO
protein:decreased expression:plasma associated with Hypertension, Pulmonary protein:increased expression:ventricle myocardium
RGD
PMID:16263185 PMID:17055480 PMID:17119870
RGD:1626171 RGD:1626175 RGD:1626186
NCBI chr X:100,863,360...100,873,105
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APOA1
apolipoprotein A1
ISO
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
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APOC1
apolipoprotein C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 1:110,520,177...110,522,563
Ensembl chr 1:110,520,198...110,631,412
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APOE
apolipoprotein E
ISO
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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ARRB1
arrestin beta 1
treatment
ISO
RGD
PMID:21232674
RGD:5509888
NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chr26:8,148,181...8,209,392
Ensembl chr26:8,148,236...8,209,388
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AVP
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18179782
NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
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AVPR2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771
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BAMBI
BMP and activin membrane bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 2:17,453,628...17,459,812
Ensembl chr 2:17,455,243...17,462,346
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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BECN1
beclin 1
treatment
ISO
RGD
PMID:18619688
RGD:11560532
NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
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BIRC5
baculoviral IAP repeat containing 5
ISO
associated with Hypertension;protein:decreased expression:cardiac muscle cell
RGD
PMID:16257070
RGD:2293134
NCBI chr 9:2,930,308...2,959,307
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BNIP3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:23508759
RGD:11561982
NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
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CASP12
caspase 12
treatment
ISO
associated with myocardial infarction associated with Hypertension
RGD
PMID:18787714 PMID:27346262
RGD:13782169 RGD:2311453
NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683
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CASP3
caspase 3
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
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CASQ2
calsequestrin 2
ISO
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10618301 PMID:16105639
RGD:1581151
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CBL
Cbl proto-oncogene
ISO
protein:increased expression:left ventricle myocardium, muscle cell (human)
RGD
PMID:24583314
RGD:11251947
NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:heart left ventricle
CTD RGD
PMID:12950323 PMID:29959987
RGD:1581156
NCBI chr 9:39,008,187...39,009,932
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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CCNA2
cyclin A2
ISO
RGD
PMID:16820573
RGD:2293348
NCBI chr19:18,317,866...18,324,592
Ensembl chr19:18,318,004...18,323,691
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CCNT1
cyclin T1
ISO
RGD
PMID:15297879
RGD:1556509
NCBI chr27:5,788,426...5,817,518
Ensembl chr27:5,788,785...5,817,043
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858
RGD:1581177
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CD40LG
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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CDK9
cyclin dependent kinase 9
ISO
protein:increased activity:ventricle: protein:increased activity:heart:
RGD
PMID:15297879
RGD:1556509
NCBI chr 9:55,615,271...55,619,493
Ensembl chr 9:55,615,827...55,620,236
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713
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CFLAR
CASP8 and FADD like apoptosis regulator
ISO
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095
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CHEK2
checkpoint kinase 2
ISO
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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CHRM4
cholinergic receptor muscarinic 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr18:43,077,115...43,084,298
Ensembl chr18:43,082,404...43,083,840
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266
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CIDEA
cell death inducing DFFA like effector a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:77,685,383...77,703,320
Ensembl chr 7:77,684,863...77,702,934
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CORIN
corin, serine peptidase
ISO
mRNA:decreased expression:left atrium, right atrium (rat) mRNA:increased expression:heart (rat)
RGD
PMID:15155264 PMID:15191894
RGD:1581217 RGD:1581218
NCBI chr13:43,501,287...43,737,522
Ensembl chr13:43,502,665...43,737,813
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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CRYAB
crystallin alpha B
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532
NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132
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CS
citrate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8922916
NCBI chr10:584,000...611,351
Ensembl chr10:584,904...611,436
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CSF2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
mRNA, protein:increased expression: paraventricular nucleus of hypothalamus
RGD
PMID:24036597
RGD:9491792
NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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CYBB
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217
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DDR1
discoidin domain receptor tyrosine kinase 1
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543
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DIO3
iodothyronine deiodinase 3
ISO
associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle
RGD
PMID:18259611
RGD:2303417
NCBI chr 8:69,696,779...69,698,880
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DMD
dystrophin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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DSTN
destrin, actin depolymerizing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr24:5,394,972...5,402,443
Ensembl chr24:5,356,464...5,432,574
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DYNLL1
dynein light chain LC8-type 1
ISO
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chr26:16,369,878...16,402,302
Ensembl chr26:16,398,886...16,402,021
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ECE1
endothelin converting enzyme 1
ISO
associated with myocardial ischemia mRNA,protein:increased expression:kidney:
RGD
PMID:9595392 PMID:11145756 PMID:19596829
RGD:1580911 RGD:7243876 RGD:7244244
NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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EDN1
endothelin 1
severity treatment
ISO
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart: protein:increased secretion:plasma (human)
CTD RGD
PMID:7967349 PMID:7969316 PMID:8149524 PMID:9861300 PMID:10199843 PMID:10973842 PMID:11136700 PMID:11707688 PMID:16360360 PMID:16762801
RGD:4144845 RGD:7244167 RGD:8661798
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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EDNRA
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
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EDNRB
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
G
ELOVL6
ELOVL fatty acid elongase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr32:30,221,858...30,360,761
Ensembl chr32:30,224,252...30,360,138
G
ENDOG
endonuclease G
ISO
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chr 9:54,809,470...54,812,795
Ensembl chr 9:54,809,530...54,813,042
G
ENG
endoglin
treatment
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938
RGD:7257540
NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
G
EP300
E1A binding protein p300
ISO
RGD
PMID:12724418
RGD:2312280
NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
G
EPHX2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
G
EPO
erythropoietin
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
G
ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:10421602
RGD:1580989
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
G
ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium
RGD
PMID:10421602
RGD:1580989
NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
G
ESRRA
estrogen related receptor alpha
ISO
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355
G
EYA4
EYA transcriptional coactivator and phosphatase 4
ISO
DNA:deletion:introns, exon (human) ClinVar Annotator: match by term: Congestive heart failure
RGD ClinVar
PMID:15735644 PMID:25741868 PMID:28492532
RGD:1598455
NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
G
FAS
Fas cell surface death receptor
treatment
ISO
mRNA:splice variant:heart left ventricle (human)
RGD
PMID:9367848 PMID:29746994
RGD:13792577 RGD:8686420
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
G
FASLG
Fas ligand
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
G
FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092
G
FBLN5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719
G
FIP1L1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr13:46,011,473...46,083,024
Ensembl chr13:46,011,681...46,083,076
G
FKBP1B
FKBP prolyl isomerase 1B
ISO
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chr17:18,534,295...18,544,973
Ensembl chr17:18,534,741...18,544,943
G
FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
G
FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
G
FOXC2
forkhead box C2
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
G
FOXO1
forkhead box O1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
G
FOXP1
forkhead box P1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
G
FOXP4
forkhead box P4
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr12:10,239,402...10,292,892
Ensembl chr12:10,258,166...10,291,125
G
FTH1
ferritin heavy chain 1
ISO
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732
G
FXYD1
FXYD domain containing ion transport regulator 1
ISO
protein:increased serine phosphorylation:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr 1:117,436,239...117,440,619
Ensembl chr 1:117,430,865...117,439,718
G
GATM
glycine amidinotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16820567
NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
G
GCG
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chr36:7,544,637...7,554,171
Ensembl chr36:7,544,637...7,554,021
G
GDF15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821
G
GHRL
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510
G
GRK1
G protein-coupled receptor kinase 1
ISO
RGD
PMID:12456492
RGD:1600002
NCBI chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146
G
GRK2
G protein-coupled receptor kinase 2
treatment
ISO
associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) CTD Direct Evidence: marker/mechanism mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD CTD
PMID:9931137 PMID:11331748 PMID:26248277 PMID:26670611 PMID:29247373
RGD:11535540 RGD:13506830 RGD:1625790 RGD:737776
NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
G
GRK3
G protein-coupled receptor kinase 3
severity
ISO
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chr26:19,385,059...19,512,528
Ensembl chr26:19,385,058...19,516,077
G
GRK5
G protein-coupled receptor kinase 5
severity
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human) mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168 PMID:26248277
RGD:11535540 RGD:13506835
NCBI chr28:29,424,350...29,636,552
Ensembl chr28:29,424,593...29,632,741
G
GSK3B
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
G
HAMP
hepcidin antimicrobial peptide
ISO
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
G
HAND2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958
G
HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:heart right ventricle (rat)
CTD RGD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
G
HMGB1
high mobility group box 1
treatment
ISO
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 RGD:10402081
NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
G
HMOX1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
G
HRH2
histamine receptor H2
susceptibility
ISO
RGD
PMID:24655024
RGD:9685523
NCBI chr 4:37,333,843...37,407,146
Ensembl chr 4:37,275,852...37,386,072
G
HSF1
heat shock transcription factor 1
ISO
protein:altered localization:heart left ventricle (rat)
RGD
PMID:24285117
RGD:10402754
NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
G
HSPB1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576
G
HTR2A
5-hydroxytryptamine receptor 2A
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
G
HTR2B
5-hydroxytryptamine receptor 2B
ISO
mRNA:increased expression:left ventricle cardiac muscle (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17936780 PMID:19023134
RGD:9698457
NCBI chr25:43,042,306...43,056,361
Ensembl chr25:43,042,173...43,056,612
G
IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
G
IGF1
insulin like growth factor 1
ISO
RGD
PMID:12835956
RGD:1598415
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
G
IL10
interleukin 10
treatment disease_progression
ISO
RGD
PMID:16461369 PMID:23778495 PMID:28939262
RGD:14975271 RGD:1598465 RGD:7365020
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
G
IL17A
interleukin 17A
ISO
protein:increased expression:heart
RGD
PMID:19527710 PMID:19909738
RGD:2325816 RGD:4831836
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
G
IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
G
IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism associated with Hypertension;mRNA:increased expression:heart associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
RGD CTD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:18999900 PMID:28939262
RGD:14975271 RGD:2307285 RGD:5128682
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
G
IL6R
interleukin 6 receptor
ISO
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090
G
INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
G
ITGB1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961
G
KAT8
lysine acetyltransferase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27768893
NCBI chr 6:17,114,528...17,125,287
Ensembl chr 6:17,114,528...17,125,203
G
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum mRNA:increased expression:endocardium of right ventricle:
RGD
PMID:16497176 PMID:17384445
RGD:12910696 RGD:1642301
NCBI chr31:29,858,428...29,868,315
G
KCNK2
potassium two pore domain channel subfamily K member 2
ISO
associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat)
RGD
PMID:25016242
RGD:9831185
NCBI chr 7:12,893,654...13,092,319
Ensembl chr 7:12,894,149...13,090,110
G
KDM2A
lysine demethylase 2A
ISO
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127
G
LEP
leptin
ISO
RGD
PMID:18006469
RGD:5128823
NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
G
LEPR
leptin receptor
ISO
protein:increased phosphorylation:heart
RGD
PMID:18006469
RGD:5128823
NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636
G
LGALS3
galectin 3
ISO
RGD
PMID:15520318
RGD:9685214
NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
G
LIF
LIF interleukin 6 family cytokine
ISO
RGD
PMID:20051627
RGD:2326058
NCBI chr26:23,400,226...23,418,538
Ensembl chr26:23,403,364...23,406,851
G
LOC607874
cystatin-C-like
susceptibility
ISO
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chr23:49,562...53,618
G
MAP2K7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150
G
MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503
G
MAS1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244
G
MDH2
malate dehydrogenase 2
ISO
RGD
PMID:16786185
RGD:1582470
NCBI chr 6:7,389,266...7,405,311
G
MIR133C
microRNA mir-133c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr24:46,490,501...46,490,586
Ensembl chr24:46,490,497...46,490,588
G
MIR27A
microRNA mir-27a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr20:48,620,556...48,620,615
Ensembl chr20:48,620,556...48,620,615
G
MIR28
microRNA mir-28
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr34:20,971,517...20,971,578
Ensembl chr34:20,971,504...20,971,589
G
MIR34A
microRNA mir-34a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 5:62,485,832...62,485,897
Ensembl chr 5:62,485,832...62,485,897
G
MME
membrane metalloendopeptidase
ISO
RGD
PMID:12383878
RGD:13801043
NCBI chr23:48,966,222...49,059,919
Ensembl chr23:48,971,066...49,059,919
G
MMP1
matrix metallopeptidase 1
ISO
RGD
PMID:12892382 PMID:21866669
RGD:1582539 RGD:7207282
NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
G
MMP13
matrix metallopeptidase 13
disease_progression
ISO
protein:increased expression:left ventricle (rat) associated with Hypertension
RGD
PMID:10773234 PMID:10773235
RGD:1582587 RGD:2290467
NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
G
MMP14
matrix metallopeptidase 14
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
G
MMP2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:heart left ventricle, plasma mRNA:increased expression:heart left ventricle
RGD
PMID:10773234 PMID:16169329 PMID:20606426
RGD:1582574 RGD:2290467 RGD:8694112
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
G
MMP3
matrix metallopeptidase 3 (stromelysin 1, progelatinase)
ISO
protein:increased expression:heart left ventricle, plasma
RGD
PMID:20606426
RGD:8694112
NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
G
MMP8
matrix metallopeptidase 8
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808
G
MMP9
matrix metallopeptidase 9
ISO
associated with Hypertension, Pulmonary; protein:increased expression:heart protein:increased expression:heart left ventricle, plasma
RGD
PMID:11342481 PMID:16952784 PMID:17913382 PMID:20606426
RGD:1582647 RGD:5130174 RGD:7207137 RGD:8694112
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
G
MSTN
myostatin
ISO
mRNA, protein:increased expression:myocardium CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16968467
RGD:2303554
NCBI chr37:729,172...734,255
Ensembl chr37:729,172...734,362
G
MTOR
mechanistic target of rapamycin kinase
ISO
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
G
MYH7
myosin heavy chain 7
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:18088389
RGD:12792974
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
G
MYOD1
myogenic differentiation 1
treatment
ISO
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
G
MYOT
myotilin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
G
MYPN
myopalladin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995
G
NCAM1
neural cell adhesion molecule 1
ISO
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
G
NFE2L2
nuclear factor, erythroid 2 like 2
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
G
NGFR
nerve growth factor receptor
ISO
associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
G
NISCH
nischarin
ISO
RGD
PMID:12021582
RGD:1581128
NCBI chr20:37,278,660...37,312,549
Ensembl chr20:37,279,282...37,312,636
G
NME2
non-metastatic cells 2, protein (NM23B) expressed in
ISO
protein:increased expression:heart, left ventricle, sarcolemma (human)
RGD
PMID:11121795
RGD:5132888
NCBI chr 9:27,002,114...27,005,740
Ensembl chr 9:27,001,733...27,015,934
G
NOS1
nitric oxide synthase 1
ISO
RGD
PMID:15466641 PMID:23832698
RGD:1581144 RGD:7257598
NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332
G
NOS1AP
nitric oxide synthase 1 adaptor protein
ISO
mRNA:increased expression:brain
RGD
PMID:21831995
RGD:7327163
NCBI chr38:20,349,687...20,353,979
G
NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NOS3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
G
NOX1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:74,784,627...74,811,796
Ensembl chr X:74,785,168...74,811,698
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NOX4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr21:10,615,153...10,782,927
Ensembl chr21:10,615,970...10,775,277
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NPPA
natriuretic peptide A
treatment severity
ISO
mRNA,protein:increased expression:heart,plasma protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1647690 PMID:2143809 PMID:8112904 PMID:11136700 PMID:11421854 PMID:16101196 PMID:23566312 PMID:23931972
RGD:1580139 RGD:1580140 RGD:7247714 RGD:7297049
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
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NPPB
natriuretic peptide B
severity
ISO
CTD Direct Evidence: marker/mechanism|therapeutic mRNA,protein:increased expression:heart,plasma protein:increased expression:plasma associated with Diabetes Mellitus;protein:increased expression:plasma
CTD RGD
PMID:1831369 PMID:2143809 PMID:11136700 PMID:11279304 PMID:11421854 PMID:12628948 PMID:15732037 PMID:15860969 PMID:16101196 PMID:16333235 PMID:16360360 PMID:16762801 PMID:16777915 PMID:17257273 PMID:19650993 PMID:24535859 PMID:29959987
RGD:1580139 RGD:1580140 RGD:1642196 RGD:7247316
NCBI chr 2:84,395,844...84,397,473
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NPR1
natriuretic peptide receptor 1
ISO
CTD Direct Evidence: marker/mechanism associated with Hypertension protein:decreased expression:kidney
CTD RGD
PMID:9405681 PMID:17264312 PMID:20881240
RGD:7247730 RGD:737701
NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027
G
NPTXR
neuronal pentraxin receptor
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr10:25,983,249...26,012,169
Ensembl chr10:25,988,906...26,008,258
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NPY
neuropeptide Y
ISO
RGD
PMID:17804485
RGD:7175103
NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
G
NR3C1
nuclear receptor subfamily 3 group C member 1
treatment
ISO
RGD
PMID:21737535
RGD:7174712
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
G
NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15722665 PMID:21321305
NCBI chr15:46,390,030...46,718,000
Ensembl chr15:46,390,023...46,710,131
G
NRG1
neuregulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
G
NRIP1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
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OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:22128088
RGD:9590202
NCBI chr X:55,821,227...55,857,597
Ensembl chr X:55,821,234...55,855,502
G
OLR1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr27:35,828,852...35,838,748
Ensembl chr27:35,828,029...35,838,754
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OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
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P2RX4
purinergic receptor P2X 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr26:7,897,528...7,914,279
Ensembl chr26:7,898,015...7,914,234
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PAMR1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr18:32,476,285...32,548,486
Ensembl chr18:32,356,982...32,575,904
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PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
G
PCK1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr24:42,538,858...42,544,200
Ensembl chr24:42,538,882...42,544,198
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937
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PDGFRA
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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PDPK1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chr 6:38,426,464...38,506,520
Ensembl chr 6:38,431,600...38,499,295
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PEBP1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr26:14,522,124...14,526,370
Ensembl chr26:14,500,074...14,529,354
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PGF
placental growth factor
ISO
RGD
PMID:19327525
RGD:6483590
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
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PKP2
plakophilin 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:20301500 PMID:22035158 PMID:25445213 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:16952920
RGD:6482778
NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114
G
PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr16:23,469,590...23,496,013
G
PLCD1
phospholipase C delta 1
ISO
RGD
PMID:11181012
RGD:2300431
NCBI chr23:7,782,495...7,804,969
Ensembl chr23:7,781,787...7,805,336
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PLD2
phospholipase D2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chr 5:31,755,881...31,767,131
Ensembl chr 5:31,756,433...31,767,066
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PLN
phospholamban
treatment
ISO
associated with Hypertension associated with Myocardial Infarction
RGD
PMID:22947202 PMID:22970977
RGD:7327181 RGD:7327182
NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
G
PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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POSTN
periostin
treatment
ISO
mRNA:increased expression:heart
RGD
PMID:15381649 PMID:16414453
RGD:10040951 RGD:10040999
NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411
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PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
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PPARGC1A
PPARG coactivator 1 alpha
onset
ISO
mRNA:decreased expression:heart (mouse) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19808358 PMID:22503866 PMID:23297372 PMID:23342071
RGD:7241838 RGD:7241843
NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
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PPP1CA
protein phosphatase 1 catalytic subunit alpha
ISO
RGD
PMID:12024026
RGD:737728
NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166
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PPP1CC
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr26:8,497,350...8,518,467
Ensembl chr26:8,495,067...8,518,675
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PPP1R1A
protein phosphatase 1 regulatory inhibitor subunit 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chr27:766,757...770,994
Ensembl chr27:766,338...771,598
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PPP2CA
protein phosphatase 2 catalytic subunit alpha
ISO
mRNA:increased expression:vastus lateralis muscle (human)
RGD
PMID:14567976
RGD:8693707
NCBI chr11:22,388,327...22,410,052
Ensembl chr11:22,385,257...22,410,052
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669
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PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Heart failure ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:21409595 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532
NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854
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PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
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PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr18:13,375,216...13,467,811
Ensembl chr18:13,376,425...13,468,038
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PRKCA
protein kinase C alpha
ISO
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630
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PRKCB
protein kinase C beta
ISO
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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PTH
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum (human)
CTD RGD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
G
PTPRF
protein tyrosine phosphatase receptor type F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr15:16,590,908...16,666,673
Ensembl chr15:16,591,308...16,666,673
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RAC1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12642504 PMID:16155095
RGD:1581295
NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216
G
RAMP2
receptor activity modifying protein 2
ISO
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chr 9:20,250,711...20,252,485
G
RAPGEF3
Rap guanine nucleotide exchange factor 3
ISO
mRNA, protein:increased expression:left ventricle myocardium (human)
RGD
PMID:18323524
RGD:9835356
NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316
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RBM20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476
G
RBP4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
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REN
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1647690 PMID:7034517 PMID:20811386
NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012
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RETN
resistin
ISO
CTD Direct Evidence: marker/mechanism associated with Coronary Disease
CTD RGD
PMID:22240747 PMID:26670611
RGD:7207075
NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
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RNLS
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:21297953
RGD:7327162
NCBI chr26:38,137,662...38,413,666
Ensembl chr26:38,083,371...38,414,033
G
ROCK2
Rho associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707
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RRAD
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:18056528
RGD:2311701
NCBI chr 5:82,392,608...82,395,574
Ensembl chr 5:82,392,557...82,395,561
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
RGD ClinVar
PMID:16483256 PMID:25741868
RGD:1599251
NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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SELP
selectin P
ISO
RGD
PMID:19193626
RGD:2312309
NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
G
SERPINE1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
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SIRT1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
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SIRT3
sirtuin 3
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118
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SLC2A4
solute carrier family 2 member 4
severity
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021
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SLC6A4
solute carrier family 6 member 4
ISO
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
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SLC8A1
solute carrier family 8 member A1
ISO
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chr17:32,004,207...32,381,399
Ensembl chr17:32,005,245...32,307,700
G
SLC9A1
solute carrier family 9 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18776042 PMID:19027022
RGD:6771337
NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SOD3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 3:85,382,698...85,387,144
Ensembl chr 3:85,382,484...85,387,455
G
SOX4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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SRF
serum response factor
ISO
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533
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SRI
sorcin
ISO
associated with Hypertension protein:decreased expression:cardiac muscle cell
RGD
PMID:12754254 PMID:20945956
RGD:7327198 RGD:7327200
NCBI chr14:14,257,375...14,274,816
Ensembl chr14:14,260,052...14,274,801
G
TBX20
T-box transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507
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TH
tyrosine hydroxylase
ISO
protein:increased expression:paraventricular thalamic nucleus (rat)
RGD
PMID:7715703 PMID:21287352
RGD:5128674 RGD:737737
NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
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TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
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TNF
tumor necrosis factor
treatment severity
ISO
associated with Myocardial Infarction; CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11100001 PMID:11668085 PMID:15135663 PMID:15210453 PMID:15231041 PMID:17337591 PMID:18034274 PMID:28939262 PMID:29959987
RGD:14975271 RGD:1580213 RGD:7401241 RGD:7401242
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
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TOMM70
translocase of outer mitochondrial membrane 70
ISO
protein:increased serine phosphorylation:heart, mitochondrion mRNA:decreased expression:heart
RGD
PMID:24395194 PMID:25022898
RGD:13464131 RGD:13464132
NCBI chr33:6,976,322...7,009,618
Ensembl chr33:6,976,934...7,009,594
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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TTN
titin
ISO
ClinVar Annotator: match by term: Congestive heart failure ClinVar Annotator: match by term: Heart failure ClinVar Annotator: match by term: CHF
ClinVar
PMID:15802564 PMID:23396983 PMID:23486992 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24231549 PMID:24271327 PMID:24503780 PMID:24569025 PMID:24578547 PMID:25589632 PMID:25741868 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27194543 PMID:27843123 PMID:28256728 PMID:28492532 PMID:29361395 PMID:30311386
NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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TTR
transthyretin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 PMID:6736244 PMID:7923855 PMID:8102146 PMID:9090525 PMID:14640030 PMID:15185492 PMID:19428025 PMID:22332999 PMID:24033266 PMID:24955979 PMID:25741868 PMID:28492532
NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058
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TUBB
tubulin beta class I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr12:512,738...517,154
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UCN
urocortin
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chr17:21,278,512...21,280,404
Ensembl chr17:21,278,932...21,279,312
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UCN2
urocortin 2
ISO
CTD Direct Evidence: therapeutic mRNA, protein:increased expression:myocardium (human)
CTD RGD
PMID:12076554 PMID:16330704
RGD:5508210
NCBI chr20:40,551,060...40,552,920
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UCP1
uncoupling protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:2,254,881...2,289,902
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UCP2
uncoupling protein 2
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20193183 PMID:20809120
RGD:7204424 RGD:7204426
NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
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UCP3
uncoupling protein 3
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
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UTS2
urotensin 2
severity
ISO
protein:increased expression:plasma
RGD
PMID:12791592 PMID:16364499
RGD:1580809 RGD:2306804
NCBI chr 5:61,503,268...61,508,146
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VCL
vinculin
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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XDH
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19933411
NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935
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YY1
YY1 transcription factor
ISO
RGD
PMID:12754214
RGD:1580831
NCBI chr 8:68,539,511...68,572,796
Ensembl chr 8:68,539,353...68,568,058
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PPA2
inorganic pyrophosphatase 2
ISO
OMIM
NCBI chr32:26,233,932...26,314,999
Ensembl chr32:26,233,965...26,314,975
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:26010685
RGD:12791997
NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20363892
RGD:5509101
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:28600387
NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:21383000 PMID:22840528 PMID:25527503 PMID:28492532
NCBI chr18:21,561,091...21,949,970
Ensembl chr18:21,564,676...21,949,544
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CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:30311386
NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
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CEP85L
centrosomal protein 85 like
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387
NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
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DPP6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr16:17,357,461...18,043,547
Ensembl chr16:17,357,522...18,041,822
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DSC2
desmocollin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 PMID:25741868 PMID:27153395 PMID:28492532
NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978
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DSG2
desmoglein 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20400443 PMID:23861362 PMID:24070718 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:21606390 PMID:25525159 PMID:25741868 PMID:28492532
NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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DYNLL1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr26:16,369,878...16,402,302
Ensembl chr26:16,398,886...16,402,021
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EP300
E1A binding protein p300
ISO
associated with Diabetes Mellitus; mRNA:increased expression:blood (human)
RGD
PMID:19577077
RGD:2312286
NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:17728042
RGD:5688386
NCBI chr25:30,045,040...30,107,110
Ensembl chr25:30,045,291...30,107,110
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GPD1L
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:30311386
NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532
NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IL18
interleukin 18
ISO
RGD
PMID:18679114
RGD:4889454
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
protein:increased expression:cerebellum (rat)
RGD
PMID:21859719
RGD:6480675
NCBI chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr27:25,368,565...25,375,754
Ensembl chr27:25,368,810...25,375,009
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MYBPC3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:14563344 PMID:15519027 PMID:16352453 PMID:20624503 PMID:22361390 PMID:23140321 PMID:23299917 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24510615 PMID:25163546 PMID:25741868 PMID:28492532
NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
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MYOM1
myomesin 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
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NSUN6
NOP2/Sun RNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:30311386
NCBI chr 2:18,477,150...18,534,716
Ensembl chr 2:18,477,211...18,534,710
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PLN
phospholamban
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387
NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535
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PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr16:15,521,304...15,786,237
Ensembl chr16:15,522,111...15,785,854
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RBM20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 PMID:27896284 PMID:28492532
NCBI chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18452873 PMID:19412328 PMID:20403459 PMID:20875080 PMID:22378279 PMID:22581653 PMID:23008441 PMID:23098067 PMID:24033266 PMID:24653702 PMID:25741868 PMID:26209461 PMID:26467025 PMID:26749013 PMID:27287068 PMID:28265756 PMID:28492532 PMID:28781330 PMID:29032884
NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
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SLMAP
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr20:32,592,576...32,738,515
Ensembl chr20:32,594,417...32,738,823
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SOD1
superoxide dismutase 1
ISO
RGD
PMID:15843790
RGD:1581221
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TRPM4
transient receptor potential cation channel subfamily M member 4
treatment
ISO
ClinVar Annotator: match by term: Cardiac arrest
RGD ClinVar
PMID:26010685 PMID:28492532
RGD:12791997
NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
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TTN
titin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
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VCL
vinculin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633
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AQP1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720
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IFT122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906
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UBIAD1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 2:84,803,338...84,813,030
Ensembl chr 2:84,804,935...84,813,344
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HAVCR1
hepatitis A virus cellular receptor 1
susceptibility
ISO
protein:increased expression:kidney tubule:
RGD
PMID:22367506 PMID:23220287
RGD:7245477 RGD:7245950
NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952 Ensembl chr 4:53,046,970...53,128,952
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21450080
RGD:6767563
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20669672
RGD:4143386
NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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ACE
angiotensin I converting enzyme
susceptibility severity treatment
ISO
DNA:insertion/deletion:intron 16: DNS:insertion/deletion:intron: (rs1799752)
RGD
PMID:14757777 PMID:19021695 PMID:19752885
RGD:40400704 RGD:40400723 RGD:40400906
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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ADRA1D
adrenoceptor alpha 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr24:17,213,615...17,221,725
Ensembl chr24:17,213,643...17,214,761
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AKIP1
A-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr21:32,279,415...32,291,788
Ensembl chr21:32,279,431...32,306,209
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ALOX15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 5:31,883,544...31,891,357
Ensembl chr 5:31,882,501...32,038,119
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ANKRD23
ankyrin repeat domain 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:45,128,411...45,134,234
Ensembl chr10:45,117,903...45,132,817
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APLN
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:100,863,360...100,873,105
G
CDC25B
cell division cycle 25B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr24:17,552,206...17,561,791
Ensembl chr24:17,553,316...17,561,759
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COL4A1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
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COL6A1
collagen type VI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
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COL8A1
collagen type VIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr33:6,285,742...6,428,172
Ensembl chr33:6,285,415...6,425,414
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CREG1
cellular repressor of E1A stimulated genes 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:30,873,556...30,884,257
Ensembl chr 7:30,873,556...30,883,370
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CYRIB
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr13:26,942,036...27,056,547
Ensembl chr13:26,942,229...27,003,644
G
ELK3
ETS transcription factor ELK3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr15:35,950,513...36,015,315
Ensembl chr15:35,950,685...36,013,081
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EPN3
epsin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:26,454,340...26,465,236
Ensembl chr 9:26,457,776...26,463,637
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FHL1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:106,542,450...106,604,494
Ensembl chr X:106,590,988...106,604,029
G
FIBIN
fin bud initiation factor homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr21:47,671,719...47,674,127
Ensembl chr21:47,672,325...47,672,960
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FXYD3
FXYD domain containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:117,452,952...117,459,632
Ensembl chr 1:117,453,272...117,456,193
G
HAMP
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
G
KANK2
KN motif and ankyrin repeat domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320
G
KLF9
Kruppel like factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:87,109,310...87,164,636
Ensembl chr 1:87,109,450...87,111,525
G
LOC612553
membrane-spanning 4-domains subfamily A member 6D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr21:50,569,747...50,579,721
G
MYH7
myosin heavy chain 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
G
NPPA
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
G
NUPR1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 6:18,222,367...18,224,015
Ensembl chr 6:18,222,515...18,224,014
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PIK3IP1
phosphoinositide-3-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr26:24,243,195...24,255,335
Ensembl chr26:24,244,772...24,255,131
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PLXND1
plexin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122
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PTP4A2
protein tyrosine phosphatase 4A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:69,222,525...69,238,436
Ensembl chr 2:69,223,615...69,236,292
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PTPN3
protein tyrosine phosphatase non-receptor type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:64,486,293...64,595,416
Ensembl chr11:64,489,446...64,630,004
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SFRP1
secreted frizzled related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr16:24,262,451...24,306,162
Ensembl chr16:24,261,946...24,302,964
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SIPA1L1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:44,916,309...45,260,197
Ensembl chr 8:44,990,495...45,258,614
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TRDN
triadin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:62,402,763...62,762,717
Ensembl chr 1:62,402,642...62,762,722
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WDR45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422
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ZNF532
zinc finger protein 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:17,152,676...17,256,895
Ensembl chr 1:17,154,193...17,257,227
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CPS1
carbamoyl-phosphate synthase 1
susceptibility
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:20154341 PMID:21767969
NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
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ADORA1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051
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ADRB2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to
ClinVar
PMID:7706471 PMID:9399946 PMID:9399966 PMID:9522789 PMID:11739457 PMID:14557466 PMID:15500895 PMID:15867853 PMID:16596417 PMID:28492532
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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BMPR2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
CTD ClinVar
PMID:11015450 PMID:11115378 PMID:12358323 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:19324947 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21801371 PMID:24033266 PMID:25460361 PMID:25741868 PMID:26387786 PMID:26820968 PMID:28492532 PMID:32581362
NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
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CAV1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
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FOXF1
forkhead box F1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 PMID:23034409 PMID:23074687 PMID:23335808 PMID:23505205 PMID:23943206 PMID:24033266 PMID:24842713 PMID:26462560
NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
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HDAC1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
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HDAC4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
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HDAC5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 9:19,261,075...19,297,669
Ensembl chr 9:19,260,893...19,297,623
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ID1
inhibitor of DNA binding 1, HLH protein
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr24:21,094,339...21,096,276
Ensembl chr24:21,094,755...21,096,276
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730
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SMAD9
SMAD family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321
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ACVRL1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:18159113 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23722869 PMID:24753439 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:29449337 PMID:32581362
NCBI chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469
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BMPR2
bone morphogenetic protein receptor type 2
ISO
OMIM
NCBI chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678
NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
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KCNA5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:28492532
NCBI chr27:39,808,987...39,810,789
Ensembl chr27:39,756,363...39,811,035
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:23883380
NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730
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NOP58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:23579436 PMID:26387786
NCBI chr37:11,255,562...11,287,325
Ensembl chr37:11,255,589...11,287,279
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SMAD1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:21898662 PMID:26387786
NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 PMID:28492532
NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
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SMAD9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321
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TBX4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:25741868 PMID:31151956
NCBI chr 9:35,163,346...35,197,726
Ensembl chr 9:35,166,353...35,191,932
G
SMAD9
SMAD family member 9
ISO
OMIM
NCBI chr25:3,768,851...3,844,645
Ensembl chr25:3,779,197...3,841,321
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BMPR1B
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar
PMID:25741868
NCBI chr32:17,761,555...17,978,056
Ensembl chr32:17,870,904...18,016,444
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CAV1
caveolin 1
ISO
OMIM
NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
G
KCNK3
potassium two pore domain channel subfamily K member 3
ISO
OMIM
NCBI chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730
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ACSL3
acyl-CoA synthetase long chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chr37:28,882,264...28,929,451
Ensembl chr37:28,864,147...28,938,866
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ADRA2B
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar Annotator: match by term: Sudden cardiac death
RGD ClinVar
PMID:12571597 PMID:25741868 PMID:28492532
RGD:734572
NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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APOB
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
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CACNA1D
calcium voltage-gated channel subunit alpha1 D
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:30311386
NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686
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CEP85L
centrosomal protein 85 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387
NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
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DPP6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr16:17,357,461...18,043,547
Ensembl chr16:17,357,522...18,041,822
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DSP
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:20435227 PMID:25741868
NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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DTNA
dystrobrevin alpha
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:30311386
NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259
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GJA1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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GPD1L
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:27930701 PMID:28492532
NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 PMID:25145517 PMID:25467552 PMID:25642760 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406
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IL6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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ITGB3
integrin subunit beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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KCNH2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 PMID:26704558
NCBI chr16:15,009,031...15,041,786
Ensembl chr16:15,009,031...15,041,504
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KNG1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081
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LMNA
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15996213
NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
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MYBPC3
myosin binding protein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215
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MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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MYOM1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
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NEBL
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 2:11,892,132...12,234,421
Ensembl chr 2:11,858,209...12,229,718
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PKP2
plakophilin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:30311386
NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
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PLN
phospholamban
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387
NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535
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PRDM16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:30311386
NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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RYR2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27930701 PMID:28492532 PMID:31913406
NCBI chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875
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SCN3B
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 5:10,783,235...10,808,342
Ensembl chr 5:10,783,325...10,804,242
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19564561 PMID:19841300 PMID:20129283 PMID:22581653 PMID:22984773 PMID:23631430 PMID:23671135 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25904541 PMID:28492532 PMID:30254039
NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
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SP4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chr14:35,367,764...35,444,972
Ensembl chr14:35,367,165...35,442,063
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TMEM43
transmembrane protein 43
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest
CTD ClinVar
PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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TNNI3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318
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TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532
NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
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TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24019741 PMID:28492532
NCBI chr 1:107,261,760...107,304,157
Ensembl chr 1:107,261,756...107,303,346
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TTN
titin
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386
NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
G
PPA2
inorganic pyrophosphatase 2
ISO
OMIM
NCBI chr32:26,233,932...26,314,999
Ensembl chr32:26,233,965...26,314,975
G
ANKRD1
ankyrin repeat domain 1
ISO
ClinVar Annotator: match by term: Heart failure, systolic
ClinVar
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956
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BMP10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr10:67,717,047...67,724,778
Ensembl chr10:67,717,980...67,724,739
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
G
NPPB
natriuretic peptide B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23122795 PMID:23725445
RGD:7246908 RGD:7247627
NCBI chr 2:84,395,844...84,397,473
G
TTN
titin
ISO
ClinVar Annotator: match by term: Heart failure, systolic
ClinVar
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all