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 heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (DO)
Synonyms: exact_synonym: CHF; Cardiac Failure; Heart Decompensation; Heart Failure; Myocardial Failure; congestive cardiac failure; congestive heart disease; weak heart
narrow_synonym: Chronic Heart Failure; advanced heart failure; high output heart failure; left sided heart failure; moderate heart failure; right sided heart failure; symptomatic 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
xref: EFO:0000373 ; EFO:0003144 ; EFO:0003145 ; EFO:0003146 ; EFO:0003148 ; EFO:0003149 ; ICD10CM:I50 ; ICD10CM:I50.9 ; ICD9CM:428 ; ICD9CM:428.0 ; NCI:C3080 ; NCI:C50577
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Acaa1b
acetyl-Coenzyme A acyltransferase 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 8:118,872,996...118,881,852
Ensembl chr 8:118,872,997...118,881,825
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Acaca
acetyl-CoA carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Acads
acyl-CoA dehydrogenase short chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898
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Acan
aggrecan
IEP
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Ace
angiotensin I converting enzyme
treatment
IMP IEP ISO
associated with Myocardial Infarction CTD Direct Evidence: marker/mechanism associated with Hypertension
CTD RGD
PMID:18586661 PMID:19620082 PMID:15894569 PMID:22123369
RGD:2325224 , RGD:12859272 , RGD:6893472
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ace2
angiotensin converting enzyme 2
ISO ISS
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:heart (human)
CTD MouseDO RGD
PMID:25973029 PMID:32227090
RGD:40818416
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acly
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr10:85,412,045...85,464,253
Ensembl chr10:85,412,049...85,463,320
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Adam17
ADAM metallopeptidase domain 17
treatment
IEP
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with cardiovascular disease; protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:19367012 PMID:26670611 PMID:22032915 PMID:18192035
RGD:5686388 , RGD:5686806
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adm
adrenomedullin
IDA
RGD
PMID:12623952
RGD:704370
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Adra2c
adrenoceptor alpha 2C
ISO
DNA:deletion: :322_325del(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of
CTD ClinVar RGD
PMID:12374873 PMID:17496726 PMID:12374873
RGD:1300355
NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846
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Adrb1
adrenoceptor beta 1
IMP ISO
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.R389G (human)
ClinVar CTD RGD
PMID:7586371 PMID:10212248 PMID:12374873 PMID:14502278 PMID:15816327 PMID:16844790 PMID:17496726 PMID:21516734 PMID:19587314 PMID:14502278 More...
RGD:5129119 , RGD:737774
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
IDA ISO IEP
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to protein:altered localization:cardiac muscle cell
ClinVar RGD
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19587314 PMID:20185685
RGD:5129119 , RGD:4144900
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3
adrenoceptor beta 3
ISO IEP
protein:increased expression:left ventricle, myocardium (human) CTD Direct Evidence: marker/mechanism protein:increased expression:heart ventricle (rat)
CTD RGD
PMID:15009959 PMID:17440824 PMID:11273992 PMID:21549119
RGD:5684398 , RGD:5684917
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
onset severity treatment
ISO IEP
DNA:polymorphisms: :p.M235T, p.T174M (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:1330361 PMID:12025466 PMID:20811386 PMID:17145981 PMID:24465706 PMID:21963897 More...
RGD:1601140 , RGD:11039412 , RGD:8549482
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897
RGD:8549482
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2
angiotensin II receptor, type 2
IEP
mRNA, protein:decreased expression:heart
RGD
PMID:18768398 PMID:21963897
RGD:6903846 , RGD:8549482
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
DNA:SNP:CDS:V140I (rs37369) (human)
RGD
PMID:27423328
RGD:329961308
NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926
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Akap6
A-kinase anchoring protein 6
ISO
RGD
PMID:24812305
RGD:11251930
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
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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 chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Alb
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox12
arachidonate 12-lipoxygenase, 12S type
IEP
RGD
PMID:15623566
RGD:5509787
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox15
arachidonate 15-lipoxygenase
treatment
IEP ISO
associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176 PMID:34958945 PMID:19546247
RGD:1642301 , RGD:401900155 , RGD:5509627
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Ampd1
adenosine monophosphate deaminase 1
susceptibility
ISO
DNA:SNP:exon 2:CDNA:polymorphism::
RGD
PMID:15135700 PMID:10086964
RGD:329349356 , RGD:329349359
NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ankrd23
ankyrin repeat domain 23
ISO
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chr 9:38,773,234...38,778,705
Ensembl chr 9:38,773,240...38,779,839
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Aoc3
amine oxidase, copper containing 3
severity
ISO
protein:increased expression:plasma
RGD
PMID:11052858
RGD:2313827
NCBI chr10:86,272,757...86,280,702
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16129801
NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
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Apln
apelin
IDA IEP ISO
associated with Hypertension, Pulmonary protein:increased expression:ventricle myocardium protein:decreased expression:plasma
RGD
PMID:17055480 PMID:17119870 PMID:16263185
RGD:1626171 , RGD:1626186 , RGD:1626175
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Apoa1
apolipoprotein A1
ISO
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc1
apolipoprotein C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375
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Apoe
apolipoprotein E
ISO
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Arrb1
arrestin, beta 1
treatment
IMP
RGD
PMID:21232674
RGD:5509888
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Atp2a1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18179782
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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Bambi
BMP and activin membrane-bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Becn1
beclin 1
treatment
IEP
RGD
PMID:18619688
RGD:11560532
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Birc5
baculoviral IAP repeat-containing 5
IEP
associated with Hypertension;protein:decreased expression:cardiac muscle cell
RGD
PMID:16257070
RGD:2293134
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bnip3
BCL2 interacting protein 3
treatment
IMP
RGD
PMID:23508759
RGD:11561982
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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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 chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Calr
calreticulin
ISS
MouseDO
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Casp1
caspase 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:17303764
RGD:2315913
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp12
caspase 12
treatment
IEP
associated with Hypertension associated with myocardial infarction
RGD
PMID:18787714 PMID:27346262
RGD:2311453 , RGD:13782169
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp3
caspase 3
treatment
IEP
RGD
PMID:29746994
RGD:13792577
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casq2
calsequestrin 2
IEP
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16105639 PMID:10618301
RGD:1581151
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cbl
Cbl proto-oncogene
disease_progression
ISO
protein:increased expression:left ventricle myocardium, muscle cell (human) DNA:mutations: :
RGD
PMID:24583314 PMID:33779075
RGD:11251947 , RGD:155630627
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccl2
C-C motif chemokine ligand 2
IEP ISO
mRNA:increased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29959987 PMID:12950323
RGD:1581156
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30045012
RGD:329845515
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccna2
cyclin A2
ISO
RGD
PMID:16820573
RGD:2293348
NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
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Ccnt1
cyclin T1
ISO
RGD
PMID:15297879
RGD:1556509
NCBI chr 7:129,687,146...129,718,080
Ensembl chr 7:129,691,209...129,717,871
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858
RGD:1581177
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdk9
cyclin-dependent kinase 9
ISO
protein:increased activity:ventricle: protein:increased activity:heart:
RGD
PMID:15297879 PMID:15297879
RGD:1556509 , RGD:1556509
NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Chdh
choline dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537
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Chek2
checkpoint kinase 2
ISO
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chrm4
cholinergic receptor, muscarinic 4
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
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Chrna4
cholinergic receptor nicotinic alpha 4 subunit
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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Cidea
cell death-inducing DFFA-like effector a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481
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Corin
corin, serine peptidase
IEP
mRNA:decreased expression:left atrium, right atrium (rat) mRNA:increased expression:heart (rat)
RGD
PMID:15155264 PMID:15191894
RGD:1581218 , RGD:1581217
NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
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Creb1
cAMP responsive element binding protein 1
treatment
IDA
RGD
PMID:34373768
RGD:401960872
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28919577 PMID:32420686 PMID:34237397 PMID:34983005 More...
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Crym
crystallin, mu
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:174,560,423...174,575,660
Ensembl chr 1:174,560,416...174,575,633
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Cs
citrate synthase
severity treatment
ISO IDA IEP
CTD Direct Evidence: marker/mechanism associated with pulmonary hypertension
CTD RGD
PMID:8922916 PMID:7484170 PMID:23099843 PMID:28492791
RGD:243049253 , RGD:243048480 , RGD:243048466
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Csrp3
cysteine and glycine rich protein 3
ISS
MouseDO
NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
G
Cst3
cystatin C
susceptibility
ISO
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
mRNA, protein:increased expression: paraventricular nucleus of hypothalamus
RGD
PMID:24036597
RGD:9491792
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcr4
C-X-C motif chemokine receptor 4
ISS
MouseDO
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
G
Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IEP
protein:increased expression:heart (rat)
RGD
PMID:19571523
RGD:4891162
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
treatment
IEP
RGD
PMID:34958945
RGD:401900155
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Cyp4f5
cytochrome P450, family 4, subfamily f, polypeptide 5
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr 7:11,544,040...11,558,982
Ensembl chr 7:11,544,082...11,558,978
G
Ddr1
discoidin domain receptor tyrosine kinase 1
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
G
Dio3
iodothyronine deiodinase 3
IEP
associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle
RGD
PMID:18259611
RGD:2303417
NCBI chr 6:129,285,747...129,287,608
Ensembl chr 6:129,285,749...129,286,660
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
G
Dnmt1
DNA methyltransferase 1
IEP
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
G
Dstn
destrin, actin depolymerizing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
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Dynll1
dynein light chain LC8-type 1
IEP
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chr12:41,312,365...41,316,157
Ensembl chr12:41,312,367...41,314,741
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
IMP
associated with myocardial infarction
RGD
PMID:26067684
RGD:11097969
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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Ece1
endothelin converting enzyme 1
ISO IEP IMP
mRNA,protein:increased expression:kidney: associated with myocardial ischemia
RGD
PMID:11145756 PMID:9595392 PMID:19596829
RGD:1580911 , RGD:7244244 , RGD:7243876
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Edn1
endothelin 1
severity treatment
ISO IEP
protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart:
CTD RGD
PMID:7967349 PMID:7969316 PMID:9861300 PMID:11136700 PMID:11707688 PMID:16360360 PMID:16762801 PMID:8149524 PMID:10973842 PMID:10199843 More...
RGD:4144845 , RGD:8661798 , RGD:7244167
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Ednra
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Elovl6
ELOVL fatty acid elongase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 2:218,063,682...218,174,767
Ensembl chr 2:218,063,804...218,171,186
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Endog
endonuclease G
IEP
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
G
Eng
endoglin
treatment
IEP IDA
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938 PMID:20156938
RGD:7257540 , RGD:7257540
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
G
Ep300
E1A binding protein p300
ISO
RGD
PMID:12724418
RGD:2312280
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Ephx2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Epo
erythropoietin
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Erbb2
erb-b2 receptor tyrosine kinase 2
IEP
RGD
PMID:10421602
RGD:1580989
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
IEP
associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium
RGD
PMID:10421602
RGD:1580989
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
G
Esrra
estrogen related receptor, alpha
ISO
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
G
Eya4
EYA transcriptional coactivator and phosphatase 4
ISO
DNA:deletion:introns, exon (human) ClinVar Annotator: match by term: Congestive heart failure
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:15735644
RGD:1598455
NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
Fads1
fatty acid desaturase 1
treatment
IEP
RGD
PMID:22796714
RGD:401901592
NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
G
Fads2
fatty acid desaturase 2
treatment
IMP IEP
associated with Left Ventricular Hypertrophy, Cardiac Fibrosis
RGD
PMID:24284026 PMID:22796714
RGD:401901245 , RGD:401901592
NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
G
Fas
Fas cell surface death receptor
treatment
ISO IEP
mRNA:splice variant:heart left ventricle (human)
RGD
PMID:9367848 PMID:29746994
RGD:8686420 , RGD:13792577
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
treatment
IEP
RGD
PMID:29746994
RGD:13792577
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
G
Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
G
Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708
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Fkbp1b
FKBP prolyl isomerase 1B
IEP
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
RGD
PMID:15623567
RGD:2293777
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fosl1
FOS like 1, AP-1 transcription factor subunit
IEP
RGD
PMID:15623567
RGD:2293777
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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Foxc1
forkhead box C1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
G
Foxc2
forkhead box C2
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxo1
forkhead box O1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
G
Foxp1
forkhead box P1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
G
Foxp4
forkhead box P4
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
G
Fth1
ferritin heavy chain 1
IEP
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
treatment
ISO
mRNA, protein:decreased expression:heart mRNA:increased expression:heart protein:increased expression:heart
RGD
PMID:29997116 PMID:33748197 PMID:36120562 PMID:34728610
RGD:329812009 , RGD:329901854 , RGD:329901853 , RGD:329812038
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Fxyd1
FXYD domain-containing ion transport regulator 1
IEP
protein:increased serine phosphorylation:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
G
Gatm
glycine amidinotransferase
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium
CTD RGD
PMID:16820567 PMID:36071497 PMID:16820567
RGD:329955376
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
G
Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
G
Gch1
GTP cyclohydrolase 1
treatment
IEP
RGD
PMID:30878404
RGD:329961332
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
G
Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Ghrl
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
G
Gnaq
G protein subunit alpha q
disease_progression no_association
ISO ISS
DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) DNA:polymorphisms:promoter:multiple
MouseDO RGD
PMID:17720980 PMID:17720980
RGD:126781754 , RGD:126781754
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
G
Gnb1
G protein subunit beta 1
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Gp6
glycoprotein VI
ISO
protein:increased expression, decreased expression:plasma, platelet (human)
RGD
PMID:27601054
RGD:401794406
NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326
G
Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
G
Grk1
G protein-coupled receptor kinase 1
IDA
RGD
PMID:12456492
RGD:1600002
NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
G
Grk2
G protein-coupled receptor kinase 2
treatment
IEP ISO
associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) mRNA:decreased expression:peripheral blood mononuclear cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:9931137 PMID:26248277 PMID:29247373 PMID:11331748
RGD:1625790 , RGD:11535540 , RGD:13506830 , RGD:737776
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Grk3
G protein-coupled receptor kinase 3
severity
ISO
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
G
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:13506835 , RGD:11535540
NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
G
Grp
gastrin releasing peptide
exacerbates
ISO
protein:increased expression:plasma (human) protein:decreased expression:plasma (human)
RGD
PMID:30145817 PMID:1396815
RGD:329961562 , RGD:401700398
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
G
Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
G
H19
H19 imprinted maternally expressed transcript
severity
ISO
CTD Direct Evidence: marker/mechanism associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
CTD RGD
PMID:36071497 PMID:27317124
RGD:243048444
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
G
Hamp
hepcidin antimicrobial peptide
ISO
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891
G
Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEP ISO
protein:increased expression:heart right ventricle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgb1
high mobility group box 1
treatment
ISO IMP
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 , RGD:10402081
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
G
Hmgcs2
3-hydroxy-3-methylglutaryl-CoA synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
G
Hmox1
heme oxygenase 1
treatment
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hoxa11-as
HOXA11 antisense RNA
ISO
CTD Direct Evidence: marker/mechanism associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
CTD RGD
PMID:36071497 PMID:27317124
RGD:243048444
NCBI chr 4:81,346,416...81,350,190
Ensembl chr 4:81,346,416...81,350,179
G
Hp
haptoglobin
treatment
IEP
RGD
PMID:23494325
RGD:11041812
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hrh2
histamine receptor H 2
susceptibility
ISO
RGD
PMID:24655024
RGD:9685523
NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631
G
Hsf1
heat shock transcription factor 1
IEP
protein:altered localization:heart left ventricle (rat)
RGD
PMID:24285117
RGD:10402754
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
G
Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
G
Htr2a
5-hydroxytryptamine receptor 2A
IDA
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Htr2b
5-hydroxytryptamine receptor 2B
IEP ISO
mRNA:increased expression:left ventricle cardiac muscle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19023134 PMID:17936780
RGD:9698457
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
G
Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Igf1
insulin-like growth factor 1
IEP
RGD
PMID:12835956
RGD:1598415
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Il10
interleukin 10
disease_progression treatment
IEP
mRNA, protein:decreased expression:cardiac ventricle (rat)
RGD
PMID:16461369 PMID:28939262 PMID:23778495
RGD:1598465 , RGD:14975271 , RGD:7365020
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17a
interleukin 17A
IEP IMP
protein:increased expression:heart
RGD
PMID:19909738 PMID:19527710
RGD:2325816 , RGD:4831836
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
IEP ISO IDA
associated with Hypertension;mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
CTD RGD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:28939262 PMID:18999900
RGD:5128682 , RGD:14975271 , RGD:2307285
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il6r
interleukin 6 receptor
IEP
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Inhba
inhibin subunit beta A
severity
ISO IEP
mRNA, protein:increased expression:PBMC, Tcells, serum (human) protein:increased expression:heart (rat)
RGD
PMID:14993131 PMID:22884154
RGD:1580888 , RGD:329849007
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Irx1
iroquois homeobox 1
treatment
IDA
RGD
PMID:31640472
RGD:329950496
NCBI chr 1:31,294,615...31,300,444
Ensembl chr 1:31,294,615...31,300,444
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Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Kat8
lysine acetyltransferase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27768893
NCBI chr 1:182,524,355...182,536,638
Ensembl chr 1:182,515,327...182,536,633
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
IEP ISO
associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum mRNA:increased expression:endocardium of right ventricle:
RGD
PMID:16497176 PMID:17384445
RGD:1642301 , RGD:12910696
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcnk2
potassium two pore domain channel subfamily K member 2
IEP
associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat)
RGD
PMID:25016242
RGD:9831185
NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
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Kdm2a
lysine demethylase 2A
ISO
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787
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Lep
leptin
ISO
RGD
PMID:18006469
RGD:5128823
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO IAGP
protein:increased phosphorylation:heart DNA:mutations:cds: : (rat)
RGD
PMID:18006469 PMID:32710530
RGD:5128823 , RGD:401960103
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lgals3
galectin 3
IEP
RGD
PMID:15520318
RGD:9685214
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lif
LIF, interleukin 6 family cytokine
IEP
RGD
PMID:20051627
RGD:2326058
NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
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Lrrc10
leucine-rich repeat-containing 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
associated with dyspnea;protein:increased expression:plasma (human) mRNA:increased expression:heart (human)
RGD
PMID:22587491 PMID:32478206
RGD:156451376 , RGD:213230162
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Map2k1
mitogen activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k7
mitogen activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Map3k5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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Map3k7
mitogen activated protein kinase kinase kinase 7
treatment
ISO
RGD
PMID:25278099 PMID:10802712 PMID:26706286
RGD:11534146 , RGD:155804285 , RGD:155791673
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mapk10
mitogen activated protein kinase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:6,497,662...6,790,109
Ensembl chr14:6,497,707...6,786,201
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Mas1
MAS1 proto-oncogene, G protein-coupled receptor
IEP
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mdh2
malate dehydrogenase 2
IDA
RGD
PMID:16786185
RGD:1582470
NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
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Med1
mediator complex subunit 1
ISS
MouseDO
NCBI chr10:83,145,538...83,189,260
Ensembl chr10:83,145,568...83,189,299
G
Mir106b
microRNA 106b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
G
Mir107
microRNA 107
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
G
Mir125a
microRNA 125a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
G
Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir140
microRNA 140
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
G
Mir143
microRNA 143
severity
ISO
RGD
PMID:29728596
RGD:155882581
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
G
Mir144
microRNA 144
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
G
Mir145
microRNA 145
disease_progression treatment
IEP ISO
associated with acute myocardial infarction; miRNA:decreased expression:blood plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36071497 PMID:28051023 PMID:32554856
RGD:155260283 , RGD:155260293
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
G
Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
G
Mir151
microRNA 151
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:105,172,377...105,172,473
G
Mir15b
microRNA 15b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:153,245,200...153,245,297
Ensembl chr 2:153,245,200...153,245,297
G
Mir17
microRNA 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir18a
microRNA 18a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:92,180,765...92,180,860
Ensembl chr15:92,180,765...92,180,860
G
Mir191
microRNA 191
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:109,264,098...109,264,188
G
Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
G
Mir195
microRNA 195
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir20a
microRNA 20a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
G
Mir20b
microRNA 20b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:132,422,211...132,422,282
Ensembl chr X:132,422,211...132,422,282
G
Mir21
microRNA 21
disease_progression treatment
ISO IEP
CTD Direct Evidence: marker/mechanism RNA:increased expression:left ventricular myocardium RNA:increased expression:heart, myofibroblast:
CTD RGD
PMID:36071497 PMID:19043405 PMID:19043405 PMID:19043405 PMID:19043405
RGD:41404712 , RGD:41404712 , RGD:41404712 , RGD:41404712
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir210
microRNA 210
severity
ISO
associated with Dyspnea; miRNA:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36071497 PMID:33783502
RGD:155269041
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mir23a
microRNA 23a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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Mir26b
microRNA 26b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
G
Mir27a
microRNA 27a
IEP
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir28
microRNA 28
IEP
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr11:75,975,523...75,975,608
Ensembl chr11:75,975,523...75,975,608
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Mir301a
microRNA 301a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435
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Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
G
Mir30e
microRNA 30e
IEP
miRNA:decreased expression:heart (rat)
RGD
PMID:25950484
RGD:11541106
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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Mir326
microRNA 326
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mir342
microRNA 342
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:127,565,269...127,565,367
Ensembl chr 6:127,565,269...127,565,367
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Mir34a
microRNA 34a
IEP
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mir3582
microRNA 3582
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr18:1,885,063...1,885,180
Ensembl chr18:1,885,063...1,885,180
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Mir361
microRNA 361
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:78,246,206...78,246,275
Ensembl chr X:78,246,206...78,246,275
G
Mir409
microRNA 409
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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Mir423
microRNA 423
ISO
miRNA:increased expression:plasma
RGD
PMID:20185794
RGD:158014892
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
G
Mir484
microRNA 484
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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Mir494
microRNA 494
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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Mir93
microRNA 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
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Mir96
microRNA 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
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Mir98
microRNA 98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:20,981,235...20,981,342
Ensembl chr X:20,981,235...20,981,342
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Mir99b
microRNA 99b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:58,677,015...58,677,084
Ensembl chr 1:58,677,011...58,677,090
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Mirlet7g
microRNA let-7g
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:106,822,293...106,822,380
Ensembl chr 8:106,822,280...106,822,388
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Mirlet7i
microRNA let-7i
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:58,642,485...58,642,569
Ensembl chr 7:58,642,480...58,642,571
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Mme
membrane metallo-endopeptidase
IEP
RGD
PMID:12383878
RGD:13801043
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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Mmp1
matrix metallopeptidase 1
ISO IDA
RGD
PMID:12892382 PMID:21866669
RGD:1582539 , RGD:7207282
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp13
matrix metallopeptidase 13
disease_progression
IEP
protein:increased expression:left ventricle (rat) associated with Hypertension
RGD
PMID:10773235 PMID:10773234
RGD:1582587 , RGD:2290467
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp14
matrix metallopeptidase 14
disease_progression
IEP
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
severity
IEP ISO
mRNA:increased expression:heart left ventricle protein:increased expression:heart left ventricle, plasma
RGD
PMID:10773234 PMID:20606426 PMID:16169329
RGD:2290467 , RGD:8694112 , RGD:1582574
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:heart left ventricle, plasma
RGD
PMID:20606426
RGD:8694112
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp8
matrix metallopeptidase 8
disease_progression
IEP
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Mmp9
matrix metallopeptidase 9
IEP ISO IDA
associated with Hypertension, Pulmonary; protein:increased expression:heart protein:increased expression:heart left ventricle, plasma
RGD
PMID:17913382 PMID:20606426 PMID:11342481 PMID:16952784
RGD:5130174 , RGD:8694112 , RGD:7207137 , RGD:1582647
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mstn
myostatin
IEP ISO
mRNA, protein:increased expression:myocardium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968467 PMID:16968467
RGD:2303554
NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933
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Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608
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Mtor
mechanistic target of rapamycin kinase
ISO
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Mtpn
myotrophin
ISS
MouseDO
NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
G
Mx1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Myh6
myosin heavy chain 6
treatment
ISO IEP
mRNA:decreased expression:heart left ventricle ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure associated with Myocardial Infarction
ClinVar RGD
PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:9410916 PMID:18088389 More...
RGD:1580923 , RGD:12792974
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
treatment
IEP
associated with Myocardial Infarction
RGD
PMID:18088389
RGD:12792974
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Myl2
myosin light chain 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:12404107 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:34,454,223...34,468,554
Ensembl chr12:34,454,218...34,468,983
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Myoc
myocilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Myocd
myocardin
ISO
RGD
PMID:19850880
RGD:11251948
NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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Myod1
myogenic differentiation 1
treatment
IDA
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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Myot
myotilin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 PMID:31404076 More...
NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
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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 chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
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Ncam1
neural cell adhesion molecule 1
IEP
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO IEP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Ngfr
nerve growth factor receptor
IEP
associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nisch
nischarin
ISO
RGD
PMID:12021582
RGD:1581128
NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
protein:increased expression:heart, left ventricle, sarcolemma (human)
RGD
PMID:11121795
RGD:5132888
NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538 Ensembl chr20:78,897,770...78,903,538
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:15466641 PMID:23832698
RGD:1581144 , RGD:7257598
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos1ap
nitric oxide synthase 1 adaptor protein
IEP
mRNA:increased expression:brain
RGD
PMID:21831995
RGD:7327163
NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nox1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 1:140,900,886...141,078,844
Ensembl chr 1:140,901,097...141,077,406
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Nppa
natriuretic peptide A
treatment severity
ISO IDA
mRNA,protein:increased expression:heart,plasma CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:1647690 PMID:8112904 PMID:11136700 PMID:16101196 PMID:11421854 PMID:23931972 PMID:23566312 PMID:2143809 More...
RGD:1580139 , RGD:7297049 , RGD:7247714 , RGD:1580140
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nppb
natriuretic peptide B
severity
ISO IEP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic associated with Diabetes Mellitus;protein:increased expression:plasma mRNA,protein:increased expression:heart,plasma
CTD RGD
PMID:11136700 PMID:11279304 PMID:12628948 PMID:15732037 PMID:15860969 PMID:16101196 PMID:16333235 PMID:16360360 PMID:16762801 PMID:16777915 PMID:19650993 PMID:24535859 PMID:29959987 PMID:2143809 PMID:1831369 PMID:17257273 PMID:11421854 More...
RGD:1580140 , RGD:7247316 , RGD:1642196 , RGD:1580139
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney
CTD RGD
PMID:20881240 PMID:9405681 PMID:17264312
RGD:737701 , RGD:7247730
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Nptxr
neuronal pentraxin receptor
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr 7:111,336,660...111,354,737
Ensembl chr 7:111,336,664...111,354,802
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Npy
neuropeptide Y
IEP
RGD
PMID:17804485
RGD:7175103
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
IMP
RGD
PMID:21737535
RGD:7174712
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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 chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Nrg1
neuregulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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Nrip1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Ogdhl
oxoglutarate dehydrogenase L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:7,578,343...7,604,385
Ensembl chr16:7,578,367...7,604,386
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Ogt
O-linked N-acetylglucosamine (GlcNAc) transferase
IEP
protein:increased expression:heart left ventricle (rat)
RGD
PMID:22128088
RGD:9590202
NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146
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Olr1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
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Opa1
OPA1, mitochondrial dynamin like GTPase
IEP
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Oprk1
opioid receptor, kappa 1
IEP
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
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P2rx4
purinergic receptor P2X 4
IEP
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr12:33,844,609...33,862,265
Ensembl chr12:33,844,396...33,862,253
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Pamr1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 3:88,889,061...88,988,615
Ensembl chr 3:88,889,046...88,988,606
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Parp1
poly (ADP-ribose) polymerase 1
treatment
IMP
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pck1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
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Pde9a
phosphodiesterase 9A
severity treatment
ISO IMP
mRNA:increased expression:heart, peripheral blood mononuclear cell
RGD
PMID:33787083 PMID:28649129
RGD:240191787 , RGD:241060360
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdpk1
3-phosphoinositide dependent protein kinase-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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Pdyn
prodynorphin
IEP
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
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Pgf
placental growth factor
IDA
RGD
PMID:19327525
RGD:6483590
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Phf6
PHD finger protein 6
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Pla2g7
phospholipase A2 group VII
ISO
RGD
PMID:16952920
RGD:6482778
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plcd1
phospholipase C, delta 1
IDA
RGD
PMID:11181012
RGD:2300431
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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Pld2
phospholipase D2
IEP
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
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Pln
phospholamban
treatment
IDA
associated with Hypertension associated with Myocardial Infarction
RGD
PMID:22970977 PMID:22947202
RGD:7327181 , RGD:7327182
NCBI chr20:32,629,537...32,639,559
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35218467
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Postn
periostin
treatment
ISO IMP
mRNA:increased expression:heart
RGD
PMID:16414453 PMID:15381649
RGD:10040951 , RGD:10040999
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
onset
ISO ISS
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart (mouse)
MouseDO CTD RGD
PMID:19808358 PMID:22503866 PMID:23342071 PMID:23297372
RGD:7241838 , RGD:7241843
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ppm1k
protein phosphatase, Mg2+/Mn2+ dependent, 1K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152
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Ppp1ca
protein phosphatase 1 catalytic subunit alpha
ISO
RGD
PMID:12024026
RGD:737728
NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
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Ppp1cc
protein phosphatase 1 catalytic subunit gamma
IEP
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr12:34,383,072...34,400,553
Ensembl chr12:34,383,072...34,400,553
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Ppp1r1a
protein phosphatase 1, regulatory (inhibitor) subunit 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chr 7:134,654,578...134,662,236
Ensembl chr 7:134,654,579...134,662,230
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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 chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkag2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:21409595 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532
NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142
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Prkar2a
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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Prkar2b
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933
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Prkca
protein kinase C, alpha
IEP
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prkcb
protein kinase C, beta
IEP
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgis
prostaglandin I2 synthase
treatment
IDA
RGD
PMID:27802898
RGD:401960097
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
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Rac1
Rac family small GTPase 1
IAGP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16155095 PMID:12642504
RGD:1581295
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Ramp2
receptor activity modifying protein 2
IEP
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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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 chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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Rbfox2
RNA binding fox-1 homolog 2
ISO
protein:decreased expression:heart (mouse)
RGD
PMID:25753418
RGD:329845877
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Rbm10
RNA binding motif protein 10
IEP
protein:decreased expression:heart
RGD
PMID:30257214
RGD:151667449
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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Rbm20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532 PMID:34174465
NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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Rbp4
retinol binding protein 4
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22785609
RGD:329845590
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Ren
renin
exacerbates
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:blood plasma (human)
CTD RGD
PMID:1647690 PMID:7034517 PMID:20811386 PMID:17526990
RGD:126908011
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Retn
resistin
ISO
associated with Coronary Disease CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22240747
RGD:7207075
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Rnls
renalase, FAD-dependent amine oxidase
IEP
RGD
PMID:21297953
RGD:7327162
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Rpph1
ribonuclease P RNA component H1
severity
ISO
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr15:24,033,679...24,033,935
Ensembl chr15:24,033,662...24,033,959
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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 chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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Rsad2
radical S-adenosyl methionine domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:43,046,514...43,059,737
Ensembl chr 6:43,047,658...43,059,699
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Ryr1
ryanodine receptor 1
ISO
RGD
PMID:29593014 PMID:29593014
RGD:329813079 , RGD:329813079
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr2
ryanodine receptor 2
IDA ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar RGD
PMID:25741868 PMID:28404607 PMID:28492532 PMID:16483256
RGD:1599251
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scd
stearoyl-CoA desaturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 1:243,269,745...243,282,878
Ensembl chr 1:243,269,747...243,282,562
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Scn5a
sodium voltage-gated channel alpha subunit 5
IEP
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Scn8a
sodium voltage-gated channel alpha subunit 8
IEP
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Selp
selectin P
IEP
RGD
PMID:19193626
RGD:2312309
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sirt3
sirtuin 3
IEP
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Slc22a5
solute carrier family 22 member 5
treatment
IEP
RGD
PMID:22796714
RGD:401901592
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Slc2a4
solute carrier family 2 member 4
severity
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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Slc6a4
solute carrier family 6 member 4
ISO
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slc8a1
solute carrier family 8 member A1
IEP
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
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Slc9a1
solute carrier family 9 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027022 PMID:18776042
RGD:6771337
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Smc1a
structural maintenance of chromosomes 1A
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Snca
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Sox2
SRY-box transcription factor 2
IMP
RGD
PMID:34321385
RGD:155882552
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Sphkap
SPHK1 interactor, AKAP domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:84,509,383...84,657,582
Ensembl chr 9:84,510,964...84,657,559
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Sra1
steroid receptor RNA activator 1
severity
ISO
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
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Srf
serum response factor
ISO
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Sri
sorcin
IEP
protein:decreased expression:cardiac muscle cell associated with Hypertension
RGD
PMID:20945956 PMID:12754254
RGD:7327198 , RGD:7327200
NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
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Srsf2
serine and arginine rich splicing factor 2
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tbx20
T-box transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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Th
tyrosine hydroxylase
IEP ISO
protein:increased expression:paraventricular thalamic nucleus (rat)
RGD
PMID:21287352 PMID:7715703
RGD:5128674 , RGD:737737
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Timp1
TIMP metallopeptidase inhibitor 1
IEP
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
IEP
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tmem71
transmembrane protein 71
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
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Tnf
tumor necrosis factor
treatment severity
IMP ISS IEP ISO
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction;
MouseDO CTD RGD
PMID:15135663 PMID:15231041 PMID:17337591 PMID:18034274 PMID:29959987 PMID:15210453 PMID:28939262 PMID:11668085 PMID:11100001 More...
RGD:1580213 , RGD:14975271 , RGD:7401242 , RGD:7401241
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
IEP
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Tomm70
translocase of outer mitochondrial membrane 70
ISO IDA
mRNA:decreased expression:heart protein:increased serine phosphorylation:heart, mitochondrion
RGD
PMID:25022898 PMID:24395194
RGD:13464131 , RGD:13464132
NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
IEP
RGD
PMID:33495812
RGD:127229929
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33594499
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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Ttn
titin
ISO
ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:15802564 PMID:17344846 PMID:23396983 PMID:23486992 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24082139 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:28771489 PMID:29361395 PMID:37091313 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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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:24955979 PMID:25741868 PMID:28492532 More...
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Tubb5
tubulin, beta 5 class I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Txnrd1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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Ucn
urocortin
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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Ucn2
urocortin 2
ISO
mRNA, protein:increased expression:myocardium (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:16330704 PMID:12076554
RGD:5508210
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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Ucp1
uncoupling protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
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Ucp2
uncoupling protein 2
IEP
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120 PMID:20193183
RGD:7204424 , RGD:7204426
NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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Ucp3
uncoupling protein 3
IEP
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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Uts2
urotensin 2
severity
ISO
protein:increased expression:plasma
RGD
PMID:16364499 PMID:12791592
RGD:2306804 , RGD:1580809
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vwf
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Xaf1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19933411
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Yy1
YY1 transcription factor
ISO
RGD
PMID:12754214
RGD:1580831
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Zeb2-as1
ZEB2 antisense RNA 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:29,343,078...29,345,943
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Zfpm2
zinc finger protein, multitype 2
exacerbates
ISO
RGD
PMID:18658259
RGD:155882484
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Ppa2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:34400813 More...
NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081
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Abcc8
ATP binding cassette subfamily C member 8
treatment
IMP
RGD
PMID:26010685
RGD:12791997
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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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 chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20363892
RGD:5509101
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532 PMID:28600387 PMID:36413997
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Atg7
autophagy related 7
ameliorates
IMP
RGD
PMID:26071643
RGD:407532703
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Cacna2d1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20817017 PMID:21383000 PMID:22840528 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 PMID:37198425 PMID:38426305 More...
NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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Ccl5
C-C motif chemokine ligand 5
IEP
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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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 More...
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Dpp6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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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 More...
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
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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 PMID:37418234 More...
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20716751 PMID:21606390 PMID:22240500 PMID:24503780 PMID:25227139 PMID:25525159 PMID:25741868 PMID:28492532 PMID:33313835 More...
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Dynll1
dynein light chain LC8-type 1
IEP
RGD
PMID:9522364
RGD:13208524
NCBI chr12:41,312,365...41,316,157
Ensembl chr12:41,312,367...41,314,741
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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 chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ephx2
epoxide hydrolase 2
ISO
RGD
PMID:17728042
RGD:5688386
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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Gas5
growth arrest specific 5
ameliorates
IEP IMP
RNA:increased expression:hippocampus, cortex;
RGD
PMID:30824348 PMID:30824348
RGD:155882547 , RGD:155882547
NCBI chr13:73,303,611...73,306,932
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Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il18
interleukin 18
IEP
RGD
PMID:18679114
RGD:4889454
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
IEP
protein:increased expression:cerebellum (rat)
RGD
PMID:21859719
RGD:6480675
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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Kcnn2
potassium calcium-activated channel subfamily N member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32909839 PMID:33887967
NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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Mir23a
microRNA 23a
IEP
RNA:decreased expression:hippocampus, cortex;
RGD
PMID:30824348
RGD:155882547
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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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 PMID:33035702 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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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 More...
NCBI chr20:32,629,537...32,639,559
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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 PMID:28798025 More...
NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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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 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Slmap
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149
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Sod1
superoxide dismutase 1
ISO
RGD
PMID:15843790
RGD:1581221
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tnf
tumor necrosis factor
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
treatment
IEP ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar RGD
PMID:28492532 PMID:26010685
RGD:12791997
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Ift122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Ubiad1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
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Havcr1
hepatitis A virus cellular receptor 1
susceptibility
ISO IEP
protein:increased expression:kidney tubule:
RGD
PMID:23220287 PMID:22367506
RGD:7245477 , RGD:7245950
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Mir21
microRNA 21
ameliorates
IMP
RGD
PMID:28760335
RGD:41410821
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Myocd
myocardin
ameliorates
ISO IMP
mRNA,protein:increased expression:left ventricle
RGD
PMID:30971740 PMID:30971740
RGD:401793740 , RGD:401793740
NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21450080
RGD:6767563
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20669672
RGD:4143386
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Il27
interleukin 27
disease_progression
ISO
associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human)
RGD
PMID:27403033
RGD:126790503
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ace
angiotensin I converting enzyme
severity treatment susceptibility
ISO IMP
DNS:insertion/deletion:intron: (rs1799752) DNA:insertion/deletion:intron 16:
RGD
PMID:19752885 PMID:14757777 PMID:19021695
RGD:40400704 , RGD:40400723 , RGD:40400906
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adra1d
adrenoceptor alpha 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
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Akip1
A-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:163,734,730...163,743,648
Ensembl chr 1:163,734,798...163,743,648
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Alox15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Ankrd23
ankyrin repeat domain 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:38,773,234...38,778,705
Ensembl chr 9:38,773,240...38,779,839
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Apln
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Cdc25b
cell division cycle 25B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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Col6a1
collagen type VI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col8a1
collagen type VIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:42,776,851...42,906,432
Ensembl chr11:42,777,628...42,906,424
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Creg1
cellular repressor of E1A-stimulated genes 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr13:78,019,814...78,032,310
Ensembl chr13:78,019,843...78,032,308
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Cyrib
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:95,633,876...95,760,588
Ensembl chr 7:95,633,876...95,697,686
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Elk3
ETS transcription factor ELK3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:27,768,582...27,831,088
Ensembl chr 7:27,768,599...27,804,084
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Epn3
epsin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356
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Fhl1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Fibin
fin bud initiation factor homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:96,942,405...96,944,676
Ensembl chr 3:96,942,406...96,944,676
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Fxyd3
FXYD domain-containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:86,305,531...86,312,455
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Hamp
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Kank2
KN motif and ankyrin repeat domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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Klf9
KLF transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:220,700,108...220,725,110
Ensembl chr 1:220,700,108...220,725,037
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Lepr
leptin receptor
treatment
IAGP
RGD
PMID:33568522
RGD:401965412
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Ms4a6a
membrane spanning 4-domains A6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758
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Myh6
myosin heavy chain 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nppa
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Nupr1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:181,213,292...181,215,327
Ensembl chr 1:181,213,368...181,215,281
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Pik3ip1
phosphoinositide-3-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:78,204,668...78,216,616
Ensembl chr14:78,204,053...78,216,608
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Plxnd1
plexin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Ptp4a2
protein tyrosine phosphatase 4A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 5:142,165,405...142,192,412
Ensembl chr 5:142,165,700...142,191,899
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Ptpn3
protein tyrosine phosphatase, non-receptor type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 5:71,908,520...72,027,323
Ensembl chr 5:71,911,135...72,065,443
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Sfrp1
secreted frizzled-related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr16:68,575,763...68,614,180
Ensembl chr16:68,575,763...68,614,286
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Sipa1l1
signal-induced proliferation-associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950
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Trdn
triadin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Zfp532
zinc finger protein 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr18:59,080,082...59,203,672
Ensembl chr18:59,092,789...59,203,666
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Cps1
carbamoyl-phosphate synthase 1
susceptibility
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
ClinVar OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:36340787 More...
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Adora1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adrb2
adrenoceptor beta 2
ISO
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 More...
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Acadl
acyl-CoA dehydrogenase, long chain
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220
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Acvrl1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adam23
ADAM metallopeptidase domain 23
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,862,649...65,009,718
Ensembl chr 9:64,862,878...65,006,515
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Adora2a
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Bmpr2
bone morphogenetic protein receptor type 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD ClinVar MouseDO
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:21920918 PMID:22632830 PMID:22995991 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25460361 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:26820968 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 PMID:36675162 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Cav1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccnyl1
cyclin Y-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,071,721...66,121,742
Ensembl chr 9:66,071,543...66,107,999
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cmklr2
chemerin chemokine-like receptor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,583,310...64,617,883
Ensembl chr 9:64,585,594...64,586,655
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Cpo
carboxypeptidase O
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,319,996...65,338,250
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Cps1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Cryga
crystallin, gamma A
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896
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Crygb
crystallin, gamma B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520
G
Crygc
crystallin, gamma C
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626
G
Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
G
Dytn
dystrotelin
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,037,378...65,098,549
Ensembl chr 9:65,037,493...65,098,549
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Eef1b2
eukaryotic translation elongation factor 1 beta 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,580,163...64,582,737
Ensembl chr 9:64,579,893...64,582,737
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Fastkd2
FAST kinase domains 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
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Fbxo32
F-box protein 32
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial 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 More...
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
G
Fzd5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,113,096...66,120,276
Ensembl chr 9:66,113,112...66,121,457
G
Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
G
Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Id1
inhibitor of DNA binding 1
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr 3:141,210,666...141,212,420
Ensembl chr 3:141,211,267...141,212,419
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Ino80d
INO80 complex subunit D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,447,075...64,514,013
Ensembl chr 9:64,457,165...64,515,242
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Kansl1l
KAT8 regulatory NSL complex subunit 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Klf7
KLF transcription factor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261
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Lancl1
LanC like glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628
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Map2
microtubule-associated protein 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Mdh1b
malate dehydrogenase 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933
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Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:65,978,051...65,987,550
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Mfn1
mitofusin 1
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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Mfn2
mitofusin 2
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mir23a
microRNA 23a
ISO
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr19:23,954,997...23,955,071
Ensembl chr19:23,954,997...23,955,071
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Myl1
myosin, light chain 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,122,815...64,238,007
Ensembl chr 9:64,123,132...64,237,958
G
Pard3b
par-3 family cell polarity regulator beta
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:63,038,435...64,067,178
Ensembl chr 9:63,038,436...64,068,053
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Pikfyve
phosphoinositide kinase, FYVE-type zinc finger containing
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,563,747...66,657,873
Ensembl chr 9:66,563,727...66,657,868
G
Plekhm3
pleckstrin homology domain containing M3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,166,233...66,325,332
Ensembl chr 9:66,166,321...66,325,294
G
Pparg
peroxisome proliferator-activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptgis
prostaglandin I2 synthase
ISO
DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)
RGD
PMID:32236489
RGD:401901150
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
G
Pth2r
parathyroid hormone 2 receptor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
G
Rfc1
replication factor C subunit 1
ISO
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
G
Rpe
ribulose-5-phosphate-3-epimerase
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591
G
Ryr1
ryanodine receptor 1
ISO
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Smad9
SMAD family member 9
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Sox17
SRY-box transcription factor 17
ISO
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
G
Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tnfsf4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Trim63
tripartite motif containing 63
ISO
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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Unc80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
G
Vip
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
G
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:16690726 PMID:16705692 PMID:17384219 PMID:18159113 PMID:18495117 PMID:18498373 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23535011 PMID:23722869 PMID:24753439 PMID:25557927 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:34872578 More...
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
OMIM ClinVar
PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 PMID:34400635 PMID:36675162 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 PMID:30665703 PMID:31019283 More...
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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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 More...
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
G
Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 PMID:8116675 PMID:8304187 PMID:8533759 PMID:8831077 PMID:9634518 PMID:10234516 PMID:10598814 PMID:10693064 PMID:11180595 PMID:11385716 PMID:11461196 PMID:11524738 PMID:11588399 PMID:12409276 PMID:12649065 PMID:12655546 PMID:12655553 PMID:12765842 PMID:15503242 PMID:16601866 PMID:16755493 PMID:16879198 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19394257 PMID:20082265 PMID:20920871 PMID:21147011 PMID:22513348 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23500595 PMID:23792259 PMID:24048906 PMID:24301756 PMID:24350308 PMID:24401910 PMID:25525159 PMID:25596310 PMID:25741868 PMID:26351554 PMID:26467025 PMID:26503515 PMID:26666653 PMID:26982749 PMID:28492532 PMID:28982351 PMID:29499199 PMID:29997390 PMID:30050108 PMID:30067850 PMID:30311390 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 More...
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
G
Smad1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
G
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:28492532 PMID:31515488 More...
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
G
Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:25741868
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
G
Snord11
small nucleolar RNA, C/D box 11
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,715...61,137,798
Ensembl chr 9:61,137,715...61,137,798
G
Snord11b
small nucleolar RNA, C/D box 11B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,137,168...61,137,247
Ensembl chr 9:61,137,168...61,137,247
G
Snord70
small nucleolar RNA, C/D box 70
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,125,974...61,126,060
Ensembl chr 9:61,125,974...61,126,060
G
Snord70b
small nucleolar RNA, C/D box 70B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 9:61,126,745...61,126,828
Ensembl chr 9:61,126,745...61,126,828
G
Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:33066286 PMID:33971972 PMID:34557690 More...
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29631995 PMID:29650961 PMID:30029678 PMID:31727138 More...
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28889099 PMID:29650961 PMID:29743074 PMID:30578397 More...
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Atp13a3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr11:70,364,998...70,442,005
Ensembl chr11:70,365,322...70,441,235
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Capns1
calpain, small subunit 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6
ClinVar OMIM
PMID:21972389 PMID:38230350
NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795
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Acsl3
acyl-CoA synthetase long-chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
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Adra2b
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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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 chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12571597
RGD:734572
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Apob
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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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 More...
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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Dpp6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Gja1
gap junction protein, alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gpd1l
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532
NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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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:25145517 PMID:25467552 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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Il6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Itgb3
integrin subunit beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 PMID:26704558 PMID:28492532 PMID:29725305 PMID:32475984 More...
NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kng1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Kng2
kininogen 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Family history of sudden cardiac death
CTD ClinVar
PMID:15996213 PMID:17711925 PMID:24623722 PMID:25741868 PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mybpc3
myosin binding protein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444
NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730
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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 More...
NCBI chr20:32,629,537...32,639,559
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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:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27930701 PMID:28404607 PMID:28492532 PMID:29350269 PMID:29477366 PMID:30615648 PMID:31913406 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn3b
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19564561 PMID:19841300 PMID:19862833 PMID:20102864 PMID:20129283 PMID:22090166 PMID:22370247 PMID:22581653 PMID:22789973 PMID:22984773 PMID:23631430 PMID:23671135 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26746457 PMID:27000522 PMID:28492532 PMID:30254039 PMID:30662450 PMID:31696929 PMID:32268277 PMID:32533187 PMID:32533946 PMID:32880476 PMID:33164571 PMID:33221895 PMID:33906374 PMID:34135346 PMID:34620408 PMID:34649698 More...
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Sp4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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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 chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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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 More...
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:20562447 PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 PMID:26350513 PMID:28074886 PMID:28315637 PMID:28492532 PMID:29568272 PMID:30142439 PMID:31847883 PMID:35089333 More...
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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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
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Ppa2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: Sudden cardiac failure, infantile
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:33826954 PMID:34400813 More...
NCBI chr 2:221,800,791...221,878,079
Ensembl chr 2:221,800,842...221,878,081
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Ankrd1
ankyrin repeat domain 1
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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Bmp10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627
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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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Hspa1a
heat shock protein family A (Hsp70) member 1A
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:23564583
RGD:7257646
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Nppb
natriuretic peptide B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23725445 PMID:23122795
RGD:7246908 , RGD:7247627
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Ttn
titin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:26516846 PMID:28492532 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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