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 .
GViewer not supported for chinchilla.
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Acaca
acetyl-CoA carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955451:679,033...909,892
Ensembl chrNW_004955451:600,254...909,892
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Acads
acyl-CoA dehydrogenase short chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chrNW_004955455:10,928,560...10,942,748
Ensembl chrNW_004955455:10,928,560...10,942,926
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Acan
aggrecan
ISO
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chrNW_004955416:16,125,536...16,186,046
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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 chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495
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Acly
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955451:16,058,916...16,091,831
Ensembl chrNW_004955451:16,058,727...16,092,589
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868
NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
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Adam17
ADAM metallopeptidase domain 17
treatment
ISO
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
CTD Direct Evidence: marker/mechanism|therapeutic protein:increased expression:plasma associated with cardiovascular disease; protein:increased expression:plasma
CTD RGD
PMID:18192035 PMID:19367012 PMID:22032915 PMID:26670611
RGD:5686388 RGD:5686806
NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
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Adm
adrenomedullin
ISO
RGD
PMID:12623952
RGD:704370
NCBI chrNW_004955414:25,951,473...25,953,593
Ensembl chrNW_004955414:25,951,349...25,953,645
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Adrb1
adrenoceptor beta 1
ISO
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of DNA:polymorphism: :p.R389G (human) CTD Direct Evidence: marker/mechanism
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 chrNW_004955431:19,025,663...19,027,026
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Adrb2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to protein:altered localization:cardiac muscle cell
RGD ClinVar
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19587314 PMID:20185685
RGD:4144900 RGD:5129119
NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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Adrb3
adrenoceptor beta 3
ISO
protein:increased expression:left ventricle, myocardium (human) CTD Direct Evidence: marker/mechanism protein:increased expression:heart ventricle (rat)
RGD CTD
PMID:11273992 PMID:15009959 PMID:17440824 PMID:21549119
RGD:5684398 RGD:5684917
NCBI chrNW_004955463:13,663,064...13,665,553
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Ager
advanced glycosylation end-product specific receptor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Agt
angiotensinogen
severity treatment 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 chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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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 chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
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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 chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248
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Akap6
A-kinase anchoring protein 6
ISO
RGD
PMID:24812305
RGD:11251930
NCBI chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
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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 chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065
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Alb
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chrNW_004955447:9,327...21,212
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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 chrNW_004955467:10,032,792...10,039,789
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868
NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
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Ankrd23
ankyrin repeat domain 23
ISO
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chrNW_004955470:4,195,872...4,200,979
Ensembl chrNW_004955470:4,195,754...4,200,979
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16129801
NCBI chrNW_004955468:11,388,154...11,389,259
Ensembl chrNW_004955468:11,388,192...11,390,314
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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 chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
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Apoc1
apolipoprotein C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955555:2,005,962...2,007,239
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Apoe
apolipoprotein E
ISO
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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Arrb1
arrestin beta 1
treatment
ISO
RGD
PMID:21232674
RGD:5509888
NCBI chrNW_004955414:16,478,843...16,568,050
Ensembl chrNW_004955414:16,478,843...16,562,135
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chrNW_004955555:869,508...892,510
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
NCBI chrNW_004955493:6,559,995...6,578,461
Ensembl chrNW_004955493:6,559,995...6,578,461
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chrNW_004955482:7,233,336...7,295,754
Ensembl chrNW_004955482:7,233,336...7,295,754
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456
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Bambi
BMP and activin membrane bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955429:21,024,396...21,025,890
Ensembl chrNW_004955429:21,024,374...21,025,890
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Bax
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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Bcl2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Becn1
beclin 1
treatment
ISO
RGD
PMID:18619688
RGD:11560532
NCBI chrNW_004955451:16,616,595...16,625,731
Ensembl chrNW_004955451:16,616,595...16,625,730
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Bnip3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:23508759
RGD:11561982
NCBI chrNW_004955477:9,621,812...9,630,406
Ensembl chrNW_004955477:9,621,812...9,638,099
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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 chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chrNW_004955403:24,315,712...24,326,271
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Casq2
calsequestrin 2
ISO
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chrNW_004955435:18,941,975...18,996,027
Ensembl chrNW_004955435:18,941,936...18,996,200
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10618301 PMID:16105639
RGD:1581151
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
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Cbl
Cbl proto-oncogene
ISO
protein:increased expression:left ventricle myocardium, muscle cell (human)
RGD
PMID:24583314
RGD:11251947
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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Ccna2
cyclin A2
ISO
RGD
PMID:16820573
RGD:2293348
NCBI chrNW_004955428:18,725,969...18,732,478
Ensembl chrNW_004955428:18,726,062...18,732,211
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Ccnt1
cyclin T1
ISO
RGD
PMID:15297879
RGD:1556509
NCBI chrNW_004955500:7,580,625...7,606,913
Ensembl chrNW_004955500:7,580,625...7,606,913
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858
RGD:1581177
NCBI chrNW_004955420:25,641,184...25,664,413
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cdk9
cyclin dependent kinase 9
ISO
protein:increased activity:ventricle: protein:increased activity:heart:
RGD
PMID:15297879
RGD:1556509
NCBI chrNW_004955419:874,959...883,160
Ensembl chrNW_004955419:873,289...883,160
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955495:6,955,612...6,961,317
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Cflar
CASP8 and FADD like apoptosis regulator
ISO
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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Chek2
checkpoint kinase 2
ISO
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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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 chrNW_004955422:1,647,663...1,655,363
Ensembl chrNW_004955422:1,647,663...1,655,363
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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 chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270
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Cidea
cell death inducing DFFA like effector a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955402:1,090,372...1,096,621
Ensembl chrNW_004955402:1,090,518...1,096,569
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Corin
corin, serine peptidase
ISO
mRNA:increased expression:heart (rat) mRNA:decreased expression:left atrium, right atrium (rat)
RGD
PMID:15155264 PMID:15191894
RGD:1581217 RGD:1581218
NCBI chrNW_004955443:721,655...970,600
Ensembl chrNW_004955443:722,201...969,014
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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 chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
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Cs
citrate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8922916
NCBI chrNW_004955458:3,881,798...3,913,044
Ensembl chrNW_004955458:3,881,798...3,893,401
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Cst3
cystatin C
susceptibility
ISO
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chrNW_004955415:30,507,972...30,512,109
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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 chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
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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 chrNW_004955583:820,893...838,515
Ensembl chrNW_004955583:820,931...841,654
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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 chrNW_004955538:1,042,949...1,045,038
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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Dnmt1
DNA methyltransferase 1
ISO
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
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Dstn
destrin, actin depolymerizing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955415:26,567,457...26,598,978
Ensembl chrNW_004955415:26,569,264...26,600,862
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Dynll1
dynein light chain LC8-type 1
ISO
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chrNW_004955455:11,148,041...11,150,860
Ensembl chrNW_004955455:11,148,047...11,150,859
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Ece1
endothelin converting enzyme 1
ISO
mRNA,protein:increased expression:kidney: associated with myocardial ischemia
RGD
PMID:9595392 PMID:11145756 PMID:19596829
RGD:1580911 RGD:7243876 RGD:7244244
NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489
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Edn1
endothelin 1
severity treatment
ISO
protein:increased secretion:plasma (human) mRNA,protein:increased expression:heart: CTD Direct Evidence: marker/mechanism
RGD CTD
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 chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
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Ednra
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761
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Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
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Elovl6
ELOVL fatty acid elongase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955496:179,634...301,908
Ensembl chrNW_004955496:179,977...301,918
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Endog
endonuclease G
ISO
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chrNW_004955570:1,200,461...1,203,566
Ensembl chrNW_004955570:1,200,996...1,203,566
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Eng
endoglin
treatment
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938
RGD:7257540
NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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Ep300
E1A binding protein p300
ISO
RGD
PMID:12724418
RGD:2312280
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Ephx2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
G
Epo
erythropoietin
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
G
Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:10421602
RGD:1580989
NCBI chrNW_004955451:14,442,816...14,456,009
Ensembl chrNW_004955451:14,442,816...14,459,379
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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 chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
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Esrra
estrogen related receptor alpha
ISO
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chrNW_004955422:20,768,450...20,775,205
Ensembl chrNW_004955422:20,768,450...20,787,451
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 chrNW_004955436:13,710,366...13,982,379
Ensembl chrNW_004955436:13,709,806...13,982,380
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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 chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Faslg
Fas ligand
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955506:1,063,002...1,079,939
Ensembl chrNW_004955506:1,063,002...1,079,939
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chrNW_004955438:14,073,927...14,144,644
Ensembl chrNW_004955438:14,071,410...14,145,070
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Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chrNW_004955447:17,265,269...17,334,197
G
Fkbp1b
FKBP prolyl isomerase 1B
ISO
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chrNW_004955469:6,263,271...6,274,823
Ensembl chrNW_004955469:6,263,271...6,277,767
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
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Foxo1
forkhead box O1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chrNW_004955431:5,797,359...5,890,758
G
Foxp1
forkhead box P1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chrNW_004955421:16,595,445...17,075,923
G
Foxp4
forkhead box P4
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chrNW_004955437:8,029,346...8,056,243
Ensembl chrNW_004955437:8,014,939...8,057,033
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Fth1
ferritin heavy chain 1
ISO
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chrNW_004955511:5,772,374...5,773,224
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Fxyd1
FXYD domain containing ion transport regulator 1
ISO
protein:increased serine phosphorylation:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chrNW_004955468:4,456,909...4,460,895
Ensembl chrNW_004955468:4,457,985...4,460,528
G
Gatm
glycine amidinotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16820567
NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
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Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
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Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chrNW_004955524:3,123,513...3,125,642
Ensembl chrNW_004955524:3,123,760...3,125,621
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
G
Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178
G
Grk1
G protein-coupled receptor kinase 1
ISO
RGD
PMID:12456492
RGD:1600002
NCBI chrNW_004955404:343,009...353,683
Ensembl chrNW_004955404:343,009...353,683
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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 chrNW_004955422:18,173,438...18,192,357
Ensembl chrNW_004955422:18,170,616...18,192,412
G
Grk3
G protein-coupled receptor kinase 3
severity
ISO
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chrNW_004955442:19,640,145...19,785,803
Ensembl chrNW_004955442:19,640,145...19,785,803
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Grk5
G protein-coupled receptor kinase 5
severity
ISO
mRNA:decreased expression:heart left ventricle (human) mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:22685168 PMID:26248277
RGD:11535540 RGD:13506835
NCBI chrNW_004955551:43,918...255,118
Ensembl chrNW_004955551:44,156...254,534
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chrNW_004955427:19,489,972...19,671,137
Ensembl chrNW_004955427:19,495,422...19,671,137
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Hamp
hepcidin antimicrobial peptide
ISO
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
G
Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955403:33,478,034...33,481,613
Ensembl chrNW_004955403:33,478,924...33,481,608
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Hcn4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:heart right ventricle (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
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Hmgb1
high mobility group box 1
treatment
ISO
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 RGD:10402081
NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
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Hrh2
histamine receptor H2
susceptibility
ISO
RGD
PMID:24655024
RGD:9685523
NCBI chrNW_004955408:28,186,316...28,225,146
Ensembl chrNW_004955408:28,186,249...28,229,411
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Hsf1
heat shock transcription factor 1
ISO
protein:altered localization:heart left ventricle (rat)
RGD
PMID:24285117
RGD:10402754
NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
G
Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle cardiac muscle (rat)
CTD RGD
PMID:17936780 PMID:19023134
RGD:9698457
NCBI chrNW_004955453:4,352,278...4,367,807
Ensembl chrNW_004955453:4,351,668...4,367,807
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
G
Igf1
insulin like growth factor 1
ISO
RGD
PMID:12835956
RGD:1598415
NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
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Il10
interleukin 10
treatment disease_progression
ISO
RGD
PMID:16461369 PMID:23778495 PMID:28939262
RGD:14975271 RGD:1598465 RGD:7365020
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il17a
interleukin 17A
ISO
protein:increased expression:heart
RGD
PMID:19527710 PMID:19909738
RGD:2325816 RGD:4831836
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) CTD Direct Evidence: marker/mechanism associated with Hypertension;mRNA:increased expression:heart
RGD CTD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:18999900 PMID:28939262
RGD:14975271 RGD:2307285 RGD:5128682
NCBI chrNW_004955410:25,079,835...25,084,390
G
Il6r
interleukin 6 receptor
ISO
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762
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Ins
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chrNW_004955462:4,454,809...4,483,227
Ensembl chrNW_004955462:4,454,809...4,484,842
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
mRNA:increased expression:endocardium of right ventricle: associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176 PMID:17384445
RGD:12910696 RGD:1642301
NCBI chrNW_004955407:33,807,581...33,814,356
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 chrNW_004955406:2,793,493...2,975,322
Ensembl chrNW_004955406:2,791,803...2,975,322
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Kdm2a
lysine demethylase 2A
ISO
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chrNW_004955422:18,201,243...18,308,163
Ensembl chrNW_004955422:18,200,758...18,308,163
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Lep
leptin
ISO
RGD
PMID:18006469
RGD:5128823
NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472
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Lepr
leptin receptor
ISO
protein:increased phosphorylation:heart
RGD
PMID:18006469
RGD:5128823
NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407
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Lgals3
galectin 3
ISO
RGD
PMID:15520318
RGD:9685214
NCBI chrNW_004955409:8,448,120...8,452,437
Ensembl chrNW_004955409:8,447,774...8,452,438
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Lif
LIF interleukin 6 family cytokine
ISO
RGD
PMID:20051627
RGD:2326058
NCBI chrNW_004955455:4,489,515...4,505,439
Ensembl chrNW_004955455:4,489,421...4,497,940
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LOC102012042
cytochrome b-245 heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955587:781,533...818,149
Ensembl chrNW_004955587:781,388...819,912
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Map2k7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chrNW_004955563:1,352,638...1,361,598
Ensembl chrNW_004955563:1,352,638...1,361,598
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chrNW_004955439:162,499...376,919
Ensembl chrNW_004955439:163,103...377,808
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chrNW_004955439:20,956,862...20,957,839
Ensembl chrNW_004955439:20,956,862...20,957,839
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Mdh2
malate dehydrogenase 2
ISO
RGD
PMID:16786185
RGD:1582470
NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
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Mme
membrane metalloendopeptidase
ISO
RGD
PMID:12383878
RGD:13801043
NCBI chrNW_004955448:6,193,113...6,311,666
Ensembl chrNW_004955448:6,226,059...6,314,949
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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 chrNW_004955412:6,106,994...6,118,760
Ensembl chrNW_004955412:6,106,994...6,118,760
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Mmp14
matrix metallopeptidase 14
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
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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 chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
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Mmp8
matrix metallopeptidase 8
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chrNW_004955412:5,928,997...5,939,012
Ensembl chrNW_004955412:5,928,997...5,939,012
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:heart left ventricle, plasma associated with Hypertension, Pulmonary; protein:increased expression:heart
RGD
PMID:11342481 PMID:16952784 PMID:17913382 PMID:20606426
RGD:1582647 RGD:5130174 RGD:7207137 RGD:8694112
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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Mstn
myostatin
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:myocardium
CTD RGD
PMID:16968467
RGD:2303554
NCBI chrNW_004955403:8,914,505...8,921,190
Ensembl chrNW_004955403:8,914,482...8,923,465
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Mtor
mechanistic target of rapamycin kinase
ISO
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
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Myod1
myogenic differentiation 1
treatment
ISO
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
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Myot
myotilin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955408:32,816,133...32,835,230
Ensembl chrNW_004955408:32,790,095...32,838,258
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Mypn
myopalladin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105
G
Ncam1
neural cell adhesion molecule 1
ISO
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
G
Nfe2l2
nuclear factor, erythroid 2 like 2
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944
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 chrNW_004955451:12,030,303...12,047,305
Ensembl chrNW_004955451:12,030,252...12,047,305
G
Nisch
nischarin
ISO
RGD
PMID:12021582
RGD:1581128
NCBI chrNW_004955430:2,443,029...2,488,267
Ensembl chrNW_004955430:2,443,029...2,491,123
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Nos1
nitric oxide synthase 1
ISO
RGD
PMID:15466641 PMID:23832698
RGD:1581144 RGD:7257598
NCBI chrNW_004955455:13,797,557...13,978,402
Ensembl chrNW_004955455:13,797,545...13,972,566
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
G
Nos3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
G
Nox1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
G
Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955414:4,062,337...4,220,032
Ensembl chrNW_004955414:4,062,081...4,212,746
G
Nppa
natriuretic peptide A
treatment severity
ISO
mRNA,protein:increased expression:heart,plasma CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
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 chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003
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Nppb
natriuretic peptide B
severity
ISO
mRNA,protein:increased expression:heart,plasma protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic associated with Diabetes Mellitus;protein:increased expression:plasma
RGD CTD
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 chrNW_004955486:2,054,775...2,056,130
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Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney
RGD CTD
PMID:9405681 PMID:17264312 PMID:20881240
RGD:7247730 RGD:737701
NCBI chrNW_004955545:323,386...338,654
Ensembl chrNW_004955545:323,956...338,097
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Nptxr
neuronal pentraxin receptor
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chrNW_004955413:24,924,464...24,941,417
Ensembl chrNW_004955413:24,925,784...24,942,292
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Npy
neuropeptide Y
ISO
RGD
PMID:17804485
RGD:7175103
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
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Nr3c1
nuclear receptor subfamily 3 group C member 1
treatment
ISO
RGD
PMID:21737535
RGD:7174712
NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
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Nr3c2
nuclear receptor subfamily 3 group C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15722665 PMID:21321305
NCBI chrNW_004955471:3,059,210...3,397,894
Ensembl chrNW_004955471:3,061,735...3,395,520
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Nrg1
neuregulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116
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Nrip1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chrNW_004955407:16,740,253...16,820,297
Ensembl chrNW_004955407:16,740,253...16,820,297
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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 chrNW_004955475:11,062,258...11,112,252
Ensembl chrNW_004955475:11,062,076...11,114,169
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Opa1
OPA1 mitochondrial dynamin like GTPase
ISO
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
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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 chrNW_004955482:7,031,874...7,039,026
Ensembl chrNW_004955482:7,031,874...7,039,220
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Pamr1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chrNW_004955422:10,734,673...10,913,258
Ensembl chrNW_004955422:10,828,428...10,913,309
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Parp1
poly(ADP-ribose) polymerase 1
treatment
ISO
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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Pck1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955445:1,909,012...1,914,032
Ensembl chrNW_004955445:1,908,946...1,915,002
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chrNW_004955439:11,480,094...11,531,842
Ensembl chrNW_004955439:11,480,101...11,531,839
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
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Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955455:13,217,012...13,222,370
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Pgf
placental growth factor
ISO
RGD
PMID:19327525
RGD:6483590
NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
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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 chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:16952920
RGD:6482778
NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
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Plcd1
phospholipase C delta 1
ISO
RGD
PMID:11181012
RGD:2300431
NCBI chrNW_004955421:4,856,366...4,880,309
Ensembl chrNW_004955421:4,856,366...4,880,309
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Pld2
phospholipase D2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chrNW_004955467:10,239,177...10,250,516
Ensembl chrNW_004955467:10,239,177...10,250,890
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Pln
phospholamban
treatment
ISO
associated with Myocardial Infarction associated with Hypertension
RGD
PMID:22947202 PMID:22970977
RGD:7327181 RGD:7327182
NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Postn
periostin
treatment
ISO
mRNA:increased expression:heart
RGD
PMID:15381649 PMID:16414453
RGD:10040951 RGD:10040999
NCBI chrNW_004955431:8,510,646...8,544,901
Ensembl chrNW_004955431:8,510,624...8,544,971
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
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Ppargc1a
PPARG coactivator 1 alpha
onset
ISO
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart (mouse)
CTD RGD
PMID:19808358 PMID:22503866 PMID:23297372 PMID:23342071
RGD:7241838 RGD:7241843
NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
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Ppp1ca
protein phosphatase 1 catalytic subunit alpha
ISO
RGD
PMID:12024026
RGD:737728
NCBI chrNW_004955422:18,076,670...18,079,859
Ensembl chrNW_004955422:18,076,670...18,079,859
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Ppp1cc
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chrNW_004955482:7,582,605...7,605,340
Ensembl chrNW_004955482:7,578,782...7,606,132
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Ppp1r1a
protein phosphatase 1 regulatory inhibitor subunit 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chrNW_004955458:1,819,366...1,823,864
Ensembl chrNW_004955458:1,819,366...1,823,867
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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 chrNW_004955408:5,435,117...5,460,361
Ensembl chrNW_004955408:5,433,268...5,460,361
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chrNW_004955415:32,794,172...32,807,944
Ensembl chrNW_004955415:32,793,718...32,812,930
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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 chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318
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Prkar2a
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chrNW_004955532:827,112...896,487
Ensembl chrNW_004955532:827,418...852,845
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Prkar2b
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955410:11,529,530...11,620,085
Ensembl chrNW_004955410:11,553,508...11,622,138
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Prkca
protein kinase C alpha
ISO
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chrNW_004955478:5,686,639...6,090,356
Ensembl chrNW_004955478:5,686,640...6,083,967
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Prkcb
protein kinase C beta
ISO
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chrNW_004955483:4,495,257...4,503,377
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chrNW_004955414:28,828,389...28,831,417
Ensembl chrNW_004955414:28,825,651...28,831,117
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Ptprf
protein tyrosine phosphatase receptor type F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chrNW_004955537:3,096,601...3,185,682
Ensembl chrNW_004955537:3,096,603...3,185,682
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Rac1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12642504 PMID:16155095
RGD:1581295
NCBI chrNW_004955460:13,270,159...13,295,562
Ensembl chrNW_004955460:13,270,159...13,311,351
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Ramp2
receptor activity modifying protein 2
ISO
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chrNW_004955451:16,584,742...16,586,093
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Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
mRNA, protein:increased expression:left ventricle myocardium (human)
RGD
PMID:18323524
RGD:9835356
NCBI chrNW_004955500:6,655,056...6,674,311
Ensembl chrNW_004955500:6,655,056...6,674,311
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Rbm20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635
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Rbp4
retinol binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1647690 PMID:7034517 PMID:20811386
NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
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Retn
resistin
ISO
associated with Coronary Disease CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22240747 PMID:26670611
RGD:7207075
NCBI chrNW_004955563:1,607,814...1,609,273
Ensembl chrNW_004955563:1,607,814...1,609,273
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Rnls
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:21297953
RGD:7327162
NCBI chrNW_004955425:4,368,620...4,667,947
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Rock2
Rho associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401
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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 chrNW_004955433:23,426,258...23,439,094
Ensembl chrNW_004955433:23,426,643...23,438,923
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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 chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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Selp
selectin P
ISO
RGD
PMID:19193626
RGD:2312309
NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chrNW_004955425:20,280,725...20,307,663
Ensembl chrNW_004955425:20,279,963...20,307,663
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Sirt3
sirtuin 3
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chrNW_004955476:11,794,951...11,826,244
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Slc2a4
solute carrier family 2 member 4
severity
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005
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Slc6a4
solute carrier family 6 member 4
ISO
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711
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Slc8a1
solute carrier family 8 member A1
ISO
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chrNW_004955441:7,653,107...8,037,784
Ensembl chrNW_004955441:7,656,031...7,957,640
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Slc9a1
solute carrier family 9 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18776042 PMID:19027022
RGD:6771337
NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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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 chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chrNW_004955480:257,716...263,149
G
Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955483:5,076,664...5,077,059
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Srf
serum response factor
ISO
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057
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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 chrNW_004955432:5,541,311...5,559,781
Ensembl chrNW_004955432:5,541,311...5,560,294
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Tbx20
T-box transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chrNW_004955460:7,794,313...7,856,906
Ensembl chrNW_004955460:7,794,313...7,856,906
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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 chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chrNW_004955506:3,769,113...3,812,896
Ensembl chrNW_004955506:3,768,646...3,813,820
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
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Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
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Tnf
tumor necrosis factor
treatment severity
ISO
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction;
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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf11b
TNF receptor superfamily member 11b
ISO
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
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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 chrNW_004955427:1,874,277...1,908,245
Ensembl chrNW_004955427:1,876,222...1,908,737
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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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 chrNW_004955403:18,057,344...18,328,389
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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 chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
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Tubb
tubulin beta class I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chrNW_004955583:704,811...715,742
Ensembl chrNW_004955583:704,750...718,649
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Ucn
urocortin
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641
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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 chrNW_004955532:648,845...650,020
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Ucp1
uncoupling protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chrNW_004955428:3,253,363...3,282,518
Ensembl chrNW_004955428:3,274,810...3,283,237
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Ucp2
uncoupling protein 2
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20193183 PMID:20809120
RGD:7204424 RGD:7204426
NCBI chrNW_004955414:17,592,914...17,596,477
Ensembl chrNW_004955414:17,592,914...17,596,477
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Ucp3
uncoupling protein 3
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chrNW_004955414:17,558,889...17,578,108
Ensembl chrNW_004955414:17,558,889...17,578,737
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Uts2
urotensin 2
severity
ISO
protein:increased expression:plasma
RGD
PMID:12791592 PMID:16364499
RGD:1580809 RGD:2306804
NCBI chrNW_004955486:5,052,045...5,056,610
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:28492532
NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chrNW_004955437:9,527,445...9,541,908
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Vwf
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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Yy1
YY1 transcription factor
ISO
RGD
PMID:12754214
RGD:1580831
NCBI chrNW_004955438:21,341,374...21,377,674
G
Ppa2
inorganic pyrophosphatase 2
ISO
OMIM
NCBI chrNW_004955496:3,765,038...3,831,312
Ensembl chrNW_004955496:3,775,170...3,831,502
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Abcc8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:26010685
RGD:12791997
NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
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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 chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20363892
RGD:5509101
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:28600387
NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
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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 chrNW_004955410:3,544,398...3,963,582
Ensembl chrNW_004955410:3,619,740...3,964,239
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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 chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
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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 chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373
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Dpp6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chrNW_004955491:7,325,720...8,167,949
Ensembl chrNW_004955491:7,326,138...8,168,270
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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 chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475
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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 chrNW_004955402:18,826,400...18,876,188
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:21606390 PMID:25525159 PMID:25741868 PMID:28492532
NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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Dynll1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chrNW_004955455:11,148,041...11,150,860
Ensembl chrNW_004955455:11,148,047...11,150,859
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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 chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
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Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:17728042
RGD:5688386
NCBI chrNW_004955403:49,999,563...50,038,800
Ensembl chrNW_004955403:49,999,563...50,041,572
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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 chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495
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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 chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il18
interleukin 18
ISO
RGD
PMID:18679114
RGD:4889454
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Ins
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
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Kcnj8
potassium inwardly rectifying channel subfamily J member 8
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chrNW_004955413:17,364,447...17,371,255
Ensembl chrNW_004955413:17,364,213...17,371,255
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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 chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
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Nsun6
NOP2/Sun RNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:30311386
NCBI chrNW_004955429:9,594,964...9,639,614
Ensembl chrNW_004955429:9,594,958...9,639,614
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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 chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070
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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 chrNW_004955491:5,852,534...6,048,820
Ensembl chrNW_004955491:5,852,082...6,019,318
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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 chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
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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 chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
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Slmap
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chrNW_004955430:7,470,823...7,620,101
Ensembl chrNW_004955430:7,471,400...7,622,459
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Sod1
superoxide dismutase 1
ISO
RGD
PMID:15843790
RGD:1581221
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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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 chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chrNW_004955403:18,057,344...18,328,389
G
Vcl
vinculin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253
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Aqp1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chrNW_004955410:32,066,196...32,078,661
Ensembl chrNW_004955410:32,066,196...32,078,717
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Ift122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609
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Ubiad1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chrNW_004955486:2,472,035...2,481,975
Ensembl chrNW_004955486:2,472,035...2,481,975
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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 chrNW_004955408:11,047,679...11,070,492
G
Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21450080
RGD:6767563
NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20669672
RGD:4143386
NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Adra1d
adrenoceptor alpha 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955415:15,000,257...15,022,712
Ensembl chrNW_004955415:15,000,257...15,022,712
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Akip1
A-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955414:24,667,718...24,677,556
Ensembl chrNW_004955414:24,667,273...24,674,960
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Alox15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955467:10,032,792...10,039,789
G
Ankrd23
ankyrin repeat domain 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955470:4,195,872...4,200,979
Ensembl chrNW_004955470:4,195,754...4,200,979
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Apln
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
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Cdc25b
cell division cycle 25B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955415:14,637,295...14,647,181
Ensembl chrNW_004955415:14,629,132...14,650,116
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
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Col6a1
collagen type VI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261
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Col8a1
collagen type VIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955427:1,187,550...1,335,794
Ensembl chrNW_004955427:1,187,550...1,335,794
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Creg1
cellular repressor of E1A stimulated genes 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955462:9,440,019...9,451,875
Ensembl chrNW_004955462:9,439,987...9,455,268
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Cyrib
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955461:4,634,324...4,786,723
Ensembl chrNW_004955461:4,632,263...4,662,016
G
Elk3
ETS transcription factor ELK3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955405:32,526,911...32,559,580
Ensembl chrNW_004955405:32,526,673...32,557,197
G
Epn3
epsin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955451:11,209,454...11,218,427
Ensembl chrNW_004955451:11,209,634...11,215,073
G
Fhl1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955489:8,888,845...8,944,778
Ensembl chrNW_004955489:8,888,779...8,901,970
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Fibin
fin bud initiation factor homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955476:6,325,492...6,327,075
Ensembl chrNW_004955476:6,325,582...6,326,267
G
Fxyd3
FXYD domain containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955468:4,437,280...4,444,315
G
Hamp
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
G
Kank2
KN motif and ankyrin repeat domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955495:2,168,992...2,173,581
G
Klf9
Kruppel like factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955434:2,685,416...2,716,669
Ensembl chrNW_004955434:2,685,416...2,716,669
G
Ms4a6a
membrane spanning 4-domains A6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955511:4,521,602...4,529,712
G
Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003
G
Nupr1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955493:6,746,380...6,747,763
Ensembl chrNW_004955493:6,746,380...6,747,763
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Pik3ip1
phosphoinositide-3-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955455:5,474,569...5,488,420
Ensembl chrNW_004955455:5,476,095...5,488,265
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Plxnd1
plexin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246
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Ptp4a2
protein tyrosine phosphatase 4A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955452:10,293,958...10,331,868
Ensembl chrNW_004955452:10,293,958...10,331,868
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Ptpn3
protein tyrosine phosphatase non-receptor type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955419:17,560,664...17,645,420
Ensembl chrNW_004955419:17,493,518...17,645,477
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Sfrp1
secreted frizzled related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955536:1,663,721...1,702,678
Ensembl chrNW_004955536:1,663,344...1,703,514
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Sipa1l1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955523:3,545,807...3,908,329
Ensembl chrNW_004955523:3,545,708...3,797,572
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Trdn
triadin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955436:4,963,945...5,266,727
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
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Znf532
zinc finger protein 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chrNW_004955402:43,075,262...43,191,656
Ensembl chrNW_004955402:43,076,933...43,191,716
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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 chrNW_004955457:4,848,116...4,961,384
Ensembl chrNW_004955457:4,844,152...4,961,246
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Adora1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
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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 chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
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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 chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403
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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 chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chrNW_004955451:17,223,217...17,246,451
Ensembl chrNW_004955451:17,223,287...17,244,051
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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 chrNW_004955422:29,337,969...29,339,178
Ensembl chrNW_004955422:29,337,757...29,339,178
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467
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Smad9
SMAD family member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955431:9,117,616...9,184,920
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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 chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
OMIM
NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
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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 chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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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 chrNW_004955413:2,835,730...2,838,761
Ensembl chrNW_004955413:2,836,146...2,837,966
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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 chrNW_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
PMID:23579436 PMID:26387786
NCBI chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678
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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 chrNW_004955428:1,357,398...1,429,521
Ensembl chrNW_004955428:1,361,085...1,429,948
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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 chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
NCBI chrNW_004955431:9,117,616...9,184,920
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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 chrNW_004955451:2,491,525...2,532,948
Ensembl chrNW_004955451:2,501,827...2,533,136
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Smad9
SMAD family member 9
ISO
OMIM
NCBI chrNW_004955431:9,117,616...9,184,920
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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 chrNW_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957
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Cav1
caveolin 1
ISO
OMIM
NCBI chrNW_004955432:22,258,262...22,292,403
Ensembl chrNW_004955432:22,258,250...22,292,403
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
OMIM
NCBI chrNW_004955469:8,710,749...8,744,423
Ensembl chrNW_004955469:8,709,999...8,747,467
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Acsl3
acyl-CoA synthetase long chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chrNW_004955453:10,916,423...10,963,986
Ensembl chrNW_004955453:10,913,786...10,947,963
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Adra2b
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chrNW_004955470:3,711,075...3,714,450
Ensembl chrNW_004955470:3,711,031...3,714,241
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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 chrNW_004955432:8,933,037...9,090,872
Ensembl chrNW_004955432:8,932,952...9,095,065
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
RGD ClinVar
PMID:12571597 PMID:25741868 PMID:28492532
RGD:734572
NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261
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Apob
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506
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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 chrNW_004955430:3,450,151...3,796,983
Ensembl chrNW_004955430:3,268,953...3,794,592
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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 chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373
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Dpp6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chrNW_004955491:7,325,720...8,167,949
Ensembl chrNW_004955491:7,326,138...8,168,270
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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 chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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Dtna
dystrobrevin alpha
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:30311386
NCBI chrNW_004955402:21,414,122...21,676,389
Ensembl chrNW_004955402:21,315,889...21,673,044
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Gja1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095
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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 chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495
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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 chrNW_004955450:4,139,852...4,181,377
Ensembl chrNW_004955450:4,139,852...4,181,377
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Il6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chrNW_004955410:25,079,835...25,084,390
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Itgb3
integrin subunit beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chrNW_004955478:9,788,192...9,830,254
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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 chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241
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Kng1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chrNW_004955420:20,989,197...21,016,084
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15996213
NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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Mybpc3
myosin binding protein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chrNW_004955402:7,293,415...7,418,226
Ensembl chrNW_004955402:7,297,502...7,417,583
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chrNW_004955429:7,559,994...7,730,683
Ensembl chrNW_004955429:7,358,758...7,725,648
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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 chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
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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 chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070
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Prdm16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:30311386
NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977
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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 chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
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Scn3b
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chrNW_004955412:24,391,764...24,412,912
Ensembl chrNW_004955412:24,388,366...24,412,604
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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 chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
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Sp4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chrNW_004955410:23,955,408...24,015,667
Ensembl chrNW_004955410:23,955,408...24,015,667
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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 chrNW_004955429:16,921,469...16,934,978
G
Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chrNW_004955567:1,037,325...1,042,102
Ensembl chrNW_004955567:1,037,462...1,042,039
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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 chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
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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 chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712
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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 chrNW_004955403:18,057,344...18,328,389
G
Ppa2
inorganic pyrophosphatase 2
ISO
OMIM
NCBI chrNW_004955496:3,765,038...3,831,312
Ensembl chrNW_004955496:3,775,170...3,831,502
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 chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878
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Bmp10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chrNW_004955424:16,124,526...16,130,723
Ensembl chrNW_004955424:16,124,464...16,134,012
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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 chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
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Nppb
natriuretic peptide B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23122795 PMID:23725445
RGD:7246908 RGD:7247627
NCBI chrNW_004955486:2,054,775...2,056,130
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 chrNW_004955403:18,057,344...18,328,389
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all