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
IAGP
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 chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
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ACAA1
acetyl-CoA acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:38,122,715...38,137,127
Ensembl chr 3:38,103,129...38,137,242
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ACACA
acetyl-CoA carboxylase alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
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ACADS
acyl-CoA dehydrogenase short chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
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ACAN
aggrecan
ISO
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ACE
angiotensin I converting enzyme
treatment
ISO EXP
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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACE2
angiotensin converting enzyme 2
EXP ISS IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:heart (human)
CTD MouseDO RGD
PMID:25973029 PMID:32227090
RGD:40818416
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
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ACLY
ATP citrate lyase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:41,866,917...41,930,545
Ensembl chr17:41,866,917...41,930,542
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ACTN2
actinin alpha 2
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP EXP
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 chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADM
adrenomedullin
ISO
RGD
PMID:12623952
RGD:704370
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADRA2C
adrenoceptor alpha 2C
IAGP EXP
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 chr 4:3,766,385...3,768,526
Ensembl chr 4:3,766,348...3,768,526
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ADRB1
adrenoceptor beta 1
ISO IAGP EXP
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:25741868 PMID:19587314 PMID:14502278 More...
RGD:5129119 , RGD:737774
NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
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ADRB2
adrenoceptor beta 2
ISO IAGP
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 chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ADRB3
adrenoceptor beta 3
IEP EXP ISO
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 chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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AGER
advanced glycosylation end-product specific receptor
severity
IEP
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AGT
angiotensinogen
onset severity treatment
IAGP EXP IEP ISO
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 chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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AGTR1
angiotensin II receptor type 1
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897
RGD:8549482
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2
angiotensin II receptor type 2
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:18768398 PMID:21963897
RGD:6903846 , RGD:8549482
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AGXT2
alanine--glyoxylate aminotransferase 2
IAGP
DNA:SNP:CDS:V140I (rs37369) (human)
RGD
PMID:27423328
RGD:329961308
NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135
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AKAP6
A-kinase anchoring protein 6
ISO
RGD
PMID:24812305
RGD:11251930
NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
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AKAP9
A-kinase anchoring protein 9
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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ALB
albumin
disease_progression
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
RGD
PMID:15623566
RGD:5509787
NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
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ALOX15
arachidonate 15-lipoxygenase
treatment
ISO
associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176 PMID:34958945 PMID:19546247
RGD:1642301 , RGD:401900155 , RGD:5509627
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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AMPD1
adenosine monophosphate deaminase 1
susceptibility
IAGP
DNA:SNP:exon 2:CDNA:polymorphism::
RGD
PMID:15135700 PMID:10086964
RGD:329349356 , RGD:329349359
NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
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ANK2
ankyrin 2
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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ANKRD23
ankyrin repeat domain 23
IEP
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chr 2:96,837,912...96,844,021
Ensembl chr 2:96,824,526...96,857,934
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AOC3
amine oxidase copper containing 3
severity
IEP
protein:increased expression:plasma
RGD
PMID:11052858
RGD:2313827
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
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APCS
amyloid P component, serum
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16129801
NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
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APLN
apelin
ISO IEP
protein:increased expression:ventricle myocardium protein:decreased expression:plasma associated with Hypertension, Pulmonary
RGD
PMID:17119870 PMID:16263185 PMID:17055480
RGD:1626186 , RGD:1626175 , RGD:1626171
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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APOA1
apolipoprotein A1
IEP
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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APOC1
apolipoprotein C1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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APOE
apolipoprotein E
IAGP
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ARG2
arginase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708
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ARRB1
arrestin beta 1
treatment
ISO
RGD
PMID:21232674
RGD:5509888
NCBI chr11:75,260,122...75,351,661
Ensembl chr11:75,260,122...75,351,705
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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AVP
arginine vasopressin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18179782
NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
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AVPR2
arginine vasopressin receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166
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BAMBI
BMP and activin membrane bound inhibitor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr10:28,677,521...28,682,932
Ensembl chr10:28,677,510...28,682,932
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BCYRN1
brain cytoplasmic RNA 1
IEP
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr 2:47,335,315...47,335,514
Ensembl chr 2:47,335,315...47,335,514
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BECN1
beclin 1
treatment
ISO
RGD
PMID:18619688
RGD:11560532
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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BIRC5
baculoviral IAP repeat containing 5
ISO
associated with Hypertension;protein:decreased expression:cardiac muscle cell
RGD
PMID:16257070
RGD:2293134
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BNIP3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:23508759
RGD:11561982
NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CALR
calreticulin
ISS
MouseDO
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CASP1
caspase 1
IEP
protein:increased expression:heart left ventricle
RGD
PMID:17303764
RGD:2315913
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CASP12
caspase 12 (gene/pseudogene)
treatment
ISO
associated with Hypertension associated with myocardial infarction
RGD
PMID:18787714 PMID:27346262
RGD:2311453 , RGD:13782169
NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670
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CASP3
caspase 3
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASQ2
calsequestrin 2
ISO
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,793,195
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CAT
catalase
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16105639 PMID:10618301
RGD:1581151
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CBL
Cbl proto-oncogene
disease_progression
IEP IAGP
protein:increased expression:left ventricle myocardium, muscle cell (human) DNA:mutations: :
RGD
PMID:24583314 PMID:33779075
RGD:11251947 , RGD:155630627
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CCL2
C-C motif chemokine ligand 2
ISO EXP
mRNA:increased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29959987 PMID:12950323
RGD:1581156
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCN1
cellular communication network factor 1
severity
IEP
protein:increased expression:blood serum (human)
RGD
PMID:30045012
RGD:329845515
NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
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CCN2
cellular communication network factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCNA2
cyclin A2
ISO
RGD
PMID:16820573
RGD:2293348
NCBI chr 4:121,816,444...121,823,883
Ensembl chr 4:121,816,444...121,823,883
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CCNT1
cyclin T1
ISO
RGD
PMID:15297879
RGD:1556509
NCBI chr12:48,688,458...48,716,707
Ensembl chr12:48,688,458...48,716,998
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CCR2
C-C motif chemokine receptor 2
IAGP
RGD
PMID:12719858
RGD:1581177
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CD40LG
CD40 ligand
IEP
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CDK9
cyclin dependent kinase 9
IEP ISO
protein:increased activity:ventricle: protein:increased activity:heart:
RGD
PMID:15297879 PMID:15297879
RGD:1556509 , RGD:1556509
NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
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CDKN2B-AS1
CDKN2B antisense RNA 1
severity
EXP IEP
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 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,128,103
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CFD
complement factor D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CFLAR
CASP8 and FADD like apoptosis regulator
IEP
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
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CHDH
choline dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:53,812,335...53,846,419
Ensembl chr 3:53,812,335...53,846,419
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CHEK2
checkpoint kinase 2
IEP
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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CHRM4
cholinergic receptor muscarinic 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr11:46,383,789...46,391,776
Ensembl chr11:46,383,789...46,391,776
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
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CIDEA
cell death inducing DFFA like effector a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr18:12,254,361...12,277,595
Ensembl chr18:12,254,361...12,277,595
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CORIN
corin, serine peptidase
ISO
mRNA:decreased expression:left atrium, right atrium (rat) mRNA:increased expression:heart (rat)
RGD
PMID:15155264 PMID:15191894
RGD:1581218 , RGD:1581217
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:34373768
RGD:401960872
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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CRP
C-reactive protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CRYAB
crystallin alpha B
IAGP
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 chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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CRYM
crystallin mu
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083
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CS
citrate synthase
severity treatment
EXP ISO
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 chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
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CSF2
colony stimulating factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CSF3
colony stimulating factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CSRP3
cysteine and glycine rich protein 3
ISS
MouseDO
NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
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CST3
cystatin C
susceptibility
IEP
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
mRNA, protein:increased expression: paraventricular nucleus of hypothalamus
RGD
PMID:24036597
RGD:9491792
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCL2
C-X-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR4
C-X-C motif chemokine receptor 4
ISS
MouseDO
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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CYBB
cytochrome b-245 beta chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYP11B1
cytochrome P450 family 11 subfamily B member 1
ISO
protein:increased expression:heart (rat)
RGD
PMID:19571523
RGD:4891162
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
ISO
protein:increased expression:heart (rat)
RGD
PMID:19571523
RGD:4891162
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
treatment
ISO
RGD
PMID:34958945
RGD:401900155
NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
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DDR1
discoidin domain receptor tyrosine kinase 1
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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DIO3
iodothyronine deiodinase 3
ISO
associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle
RGD
PMID:18259611
RGD:2303417
NCBI chr14:101,561,495...101,563,452
Ensembl chr14:101,560,139...101,563,452
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DMD
dystrophin
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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DSTN
destrin, actin depolymerizing factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr20:17,570,075...17,609,919
Ensembl chr20:17,570,075...17,609,919
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DYNLL1
dynein light chain LC8-type 1
ISO
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
ISO
associated with myocardial infarction
RGD
PMID:26067684
RGD:11097969
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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ECE1
endothelin converting enzyme 1
IEP ISO
mRNA,protein:increased expression:kidney: associated with myocardial ischemia
RGD
PMID:11145756 PMID:9595392 PMID:19596829
RGD:1580911 , RGD:7244244 , RGD:7243876
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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EDN1
endothelin 1
severity treatment
IEP EXP IDA ISO
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 chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EDNRA
endothelin receptor type A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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EDNRB
endothelin receptor type B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
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EGOT
eosinophil granule ontogeny transcript
severity
IEP
associated with ischemic cardiomyopathy; RNA:decreased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr 3:4,749,192...4,751,590
Ensembl chr 3:4,749,192...4,751,590
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ELOVL6
ELOVL fatty acid elongase 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:110,045,846...110,199,202
Ensembl chr 4:110,045,846...110,199,199
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ENDOG
endonuclease G
ISO
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chr 9:128,818,500...128,822,676
Ensembl chr 9:128,818,500...128,822,676
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ENG
endoglin
treatment
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938 PMID:20156938
RGD:7257540 , RGD:7257540
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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EP300
E1A binding protein p300
IMP
RGD
PMID:12724418
RGD:2312280
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPHX2
epoxide hydrolase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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EPO
erythropoietin
treatment
IDA
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:10421602
RGD:1580989
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium
RGD
PMID:10421602
RGD:1580989
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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ESRRA
estrogen related receptor alpha
IEP
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
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EYA4
EYA transcriptional coactivator and phosphatase 4
IAGP
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 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
IAGP
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FADS1
fatty acid desaturase 1
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr11:61,799,627...61,817,003
Ensembl chr11:61,799,627...61,829,318
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FADS2
fatty acid desaturase 2
treatment
ISO
associated with Left Ventricular Hypertrophy, Cardiac Fibrosis
RGD
PMID:24284026 PMID:22796714
RGD:401901245 , RGD:401901592
NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354
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FAS
Fas cell surface death receptor
treatment
IEP ISO
mRNA:splice variant:heart left ventricle (human)
RGD
PMID:9367848 PMID:29746994
RGD:8686420 , RGD:13792577
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FASN
fatty acid synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
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FBLN5
fibulin 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
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FIP1L1
factor interacting with PAPOLA and CPSF1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
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FKBP1B
FKBP prolyl isomerase 1B
ISO
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
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FOXC1
forkhead box C1
IEP
RGD
PMID:16952980
RGD:1582564
NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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FOXC2
forkhead box C2
IEP
RGD
PMID:16952980
RGD:1582564
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
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FOXO1
forkhead box O1
IEP
RGD
PMID:16952980
RGD:1582564
NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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FOXP1
forkhead box P1
IEP
RGD
PMID:16952980
RGD:1582564
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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FOXP4
forkhead box P4
IEP
RGD
PMID:16952980
RGD:1582564
NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384
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FTH1
ferritin heavy chain 1
ISO
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
treatment
IEP ISO
mRNA, protein:decreased expression:heart mRNA:increased expression:peripheral blood mononuclear cell protein:increased expression:heart
RGD
PMID:29997116 PMID:33748197 PMID:36120562 PMID:34728610
RGD:329812009 , RGD:329901854 , RGD:329901853 , RGD:329812038
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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FXYD1
FXYD domain containing ion transport regulator 1
ISO
protein:increased serine phosphorylation:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109
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GATM
glycine amidinotransferase
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium
CTD RGD
PMID:16820567 PMID:36071497 PMID:16820567
RGD:329955376
NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
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GCG
glucagon
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:30878404
RGD:329961332
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GDF15
growth differentiation factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176
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GHRL
ghrelin and obestatin prepropeptide
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
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GNAQ
G protein subunit alpha q
disease_progression no_association
IAGP 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 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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GNB1
G protein subunit beta 1
disease_progression
IAGP
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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GP6
glycoprotein VI platelet
IEP
protein:increased expression, decreased expression:plasma, platelet (human)
RGD
PMID:27601054
RGD:401794406
NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
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GPX4
glutathione peroxidase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GRK1
G protein-coupled receptor kinase 1
ISO
RGD
PMID:12456492
RGD:1600002
NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736
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GRK2
G protein-coupled receptor kinase 2
treatment
ISO IEP EXP
mRNA:decreased expression:peripheral blood mononuclear cell (human) CTD Direct Evidence: marker/mechanism associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat)
CTD RGD
PMID:26670611 PMID:11331748 PMID:26248277 PMID:29247373 PMID:9931137
RGD:737776 , RGD:11535540 , RGD:13506830 , RGD:1625790
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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GRK3
G protein-coupled receptor kinase 3
severity
IEP
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294
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GRK5
G protein-coupled receptor kinase 5
severity
IEP
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 chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
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GRP
gastrin releasing peptide
exacerbates
IEP
protein:increased expression:plasma (human) protein:decreased expression:plasma (human)
RGD
PMID:30145817 PMID:1396815
RGD:329961562 , RGD:401700398
NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774
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GSK3B
glycogen synthase kinase 3 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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H19
H19 imprinted maternally expressed transcript
severity
EXP IEP
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 chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
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HAMP
hepcidin antimicrobial peptide
IEP
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HAND2
heart and neural crest derivatives expressed 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO EXP
protein:increased expression:heart right ventricle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HMGB1
high mobility group box 1
treatment
IEP ISO
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 , RGD:10402081
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
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HMOX1
heme oxygenase 1
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HOTAIR
HOX transcript antisense RNA
severity
IEP
associated with ischemic cardiomyopathy; RNA:decreased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr12:53,962,312...53,974,954
Ensembl chr12:53,962,308...53,974,956
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HOTTIP
HOXA distal transcript antisense RNA
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:27,200,421...27,207,259
Ensembl chr 7:27,198,575...27,207,259
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HOXA11-AS
HOXA11 antisense RNA
EXP IEP
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 7:27,185,408...27,189,293
Ensembl chr 7:27,184,507...27,189,298
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HP
haptoglobin
treatment
ISO
RGD
PMID:23494325
RGD:11041812
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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HRH2
histamine receptor H2
susceptibility
ISO
RGD
PMID:24655024
RGD:9685523
NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756
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HSF1
heat shock transcription factor 1
ISO
protein:altered localization:heart left ventricle (rat)
RGD
PMID:24285117
RGD:10402754
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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HSPB1
heat shock protein family B (small) member 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
G
HTR2A
5-hydroxytryptamine receptor 2A
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
G
HTR2B
5-hydroxytryptamine receptor 2B
ISO EXP
mRNA:increased expression:left ventricle cardiac muscle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19023134 PMID:17936780
RGD:9698457
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
G
IFIT3
interferon induced protein with tetratricopeptide repeats 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:89,327,997...89,340,968
Ensembl chr10:89,327,307...89,377,473
G
IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:12835956
RGD:1598415
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL10
interleukin 10
disease_progression treatment
ISO
mRNA, protein:decreased expression:cardiac ventricle (rat)
RGD
PMID:16461369 PMID:28939262 PMID:23778495
RGD:1598465 , RGD:14975271 , RGD:7365020
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL17A
interleukin 17A
ISO
protein:increased expression:heart
RGD
PMID:19909738 PMID:19527710
RGD:2325816 , RGD:4831836
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL6
interleukin 6
ISO EXP
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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6R
interleukin 6 receptor
ISO
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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INHBA
inhibin subunit beta A
severity
IEP ISO
mRNA, protein:increased expression:PBMC, Tcells, serum (human) protein:increased expression:heart (rat)
RGD
PMID:14993131 PMID:22884154
RGD:1580888 , RGD:329849007
NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
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INS
insulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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IRX1
iroquois homeobox 1
treatment
ISO
RGD
PMID:31640472
RGD:329950496
NCBI chr 5:3,595,832...3,601,403
Ensembl chr 5:3,595,832...3,601,403
G
ITGB1
integrin subunit beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
G
KAT8
lysine acetyltransferase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27768893
NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
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KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO IEP
associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum (rat) mRNA:increased expression:endocardium of right ventricle:
RGD
PMID:16497176 PMID:17384445
RGD:1642301 , RGD:12910696
NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
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KCNK2
potassium two pore domain channel subfamily K member 2
ISO
associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat)
RGD
PMID:25016242
RGD:9831185
NCBI chr 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090
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KDM2A
lysine demethylase 2A
ISO
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chr11:67,119,263...67,258,082
Ensembl chr11:67,119,263...67,258,082
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KRASP1
KRAS proto-oncogene, GTPase pseudogene 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:54,770,474...54,775,706
Ensembl chr 6:54,770,583...54,771,134
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LEP
leptin
ISO
RGD
PMID:18006469
RGD:5128823
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
ISO
protein:increased phosphorylation:heart DNA:mutations:cds: : (rat)
RGD
PMID:18006469 PMID:32710530
RGD:5128823 , RGD:401960103
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LGALS3
galectin 3
ISO
RGD
PMID:15520318
RGD:9685214
NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
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LIF
LIF interleukin 6 family cytokine
ISO
RGD
PMID:20051627
RGD:2326058
NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759
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LOC114827850
VISTA enhancer hs2149
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:110,918,953...110,921,387
G
LOC114827851
VISTA enhancer hs2155
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:23,404,568...23,409,443
G
LOC129994952
ATAC-STARR-seq lymphoblastoid silent region 16492
IAGP
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to
ClinVar
PMID:16596417
NCBI chr 5:148,826,740...148,826,879
G
LRRC10
leucine rich repeat containing 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:69,608,564...69,610,907
Ensembl chr12:69,608,564...69,610,907
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LTBP2
latent transforming growth factor beta binding protein 2
IEP HEP
associated with dyspnea;protein:increased expression:plasma (human) mRNA:increased expression:heart (human)
RGD
PMID:22587491 PMID:32478206
RGD:156451376 , RGD:213230162
NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
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MAP2K1
mitogen-activated protein kinase kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
G
MAP2K7
mitogen-activated protein kinase kinase 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097
G
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 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
G
MAPK10
mitogen-activated protein kinase 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:86,010,405...86,594,074
Ensembl chr 4:85,990,007...86,594,625
G
MAS1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447
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MDH2
malate dehydrogenase 2
ISO
RGD
PMID:16786185
RGD:1582470
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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MED1
mediator complex subunit 1
ISS
MouseDO
NCBI chr17:39,404,285...39,451,263
Ensembl chr17:39,404,285...39,451,272
G
MIR106B
microRNA 106b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:100,093,993...100,094,074
Ensembl chr 7:100,093,993...100,094,074
G
MIR107
microRNA 107
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:89,592,747...89,592,827
Ensembl chr10:89,592,747...89,592,827
G
MIR125A
microRNA 125a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
G
MIR126
microRNA 126
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
G
MIR1268A
microRNA 1268a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:22,225,278...22,225,329
Ensembl chr15:22,225,278...22,225,329
G
MIR1275
microRNA 1275
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:33,999,972...34,000,051
Ensembl chr 6:33,999,972...34,000,051
G
MIR133A2
microRNA 133a-2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
G
MIR140
microRNA 140
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:69,933,081...69,933,180
Ensembl chr16:69,933,081...69,933,180
G
MIR143
microRNA 143
severity
IEP
RGD
PMID:29728596
RGD:155882581
NCBI chr 5:149,428,918...149,429,023
Ensembl chr 5:149,428,918...149,429,023
G
MIR144
microRNA 144
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:28,861,533...28,861,618
Ensembl chr17:28,861,533...28,861,618
G
MIR145
microRNA 145
disease_progression treatment
ISO EXP
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 chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
G
MIR148A
microRNA 148a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:25,949,919...25,949,986
Ensembl chr 7:25,949,919...25,949,986
G
MIR150
microRNA 150
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:49,500,785...49,500,868
Ensembl chr19:49,500,785...49,500,868
G
MIR151A
microRNA 151a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:140,732,564...140,732,653
Ensembl chr 8:140,732,564...140,732,653
G
MIR15A
microRNA 15a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:50,049,119...50,049,201
Ensembl chr13:50,049,119...50,049,201
G
MIR15B
microRNA 15b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:160,404,588...160,404,685
Ensembl chr 3:160,404,588...160,404,685
G
MIR17
microRNA 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688
G
MIR18A
microRNA 18a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:91,350,751...91,350,821
Ensembl chr13:91,350,751...91,350,821
G
MIR18B
microRNA 18b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:134,170,041...134,170,111
Ensembl chr X:134,170,041...134,170,111
G
MIR191
microRNA 191
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709
G
MIR193B
microRNA 193b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:14,303,967...14,304,049
Ensembl chr16:14,303,967...14,304,049
G
MIR195
microRNA 195
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701
G
MIR19A
microRNA 19a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:91,350,891...91,350,972
Ensembl chr13:91,350,891...91,350,972
G
MIR20A
microRNA 20a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135
G
MIR20B
microRNA 20b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:134,169,809...134,169,877
Ensembl chr X:134,169,809...134,169,877
G
MIR21
microRNA 21
disease_progression treatment
ISO EXP 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 chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
G
MIR210
microRNA 210
severity
IEP EXP
associated with Dyspnea; miRNA:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36071497 PMID:33783502
RGD:155269041
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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MIR23A
microRNA 23a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
G
MIR26B
microRNA 26b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:218,402,646...218,402,722
Ensembl chr 2:218,402,646...218,402,722
G
MIR27A
microRNA 27a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517
G
MIR28
microRNA 28
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 3:188,688,781...188,688,866
Ensembl chr 3:188,688,781...188,688,866
G
MIR29C
microRNA 29c
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
G
MIR301A
microRNA 301a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:59,151,136...59,151,221
Ensembl chr17:59,151,136...59,151,221
G
MIR30B
microRNA 30b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:134,800,520...134,800,607
Ensembl chr 8:134,800,520...134,800,607
G
MIR30E
microRNA 30e
ISO
miRNA:decreased expression:heart (rat)
RGD
PMID:25950484
RGD:11541106
NCBI chr 1:40,754,355...40,754,446
Ensembl chr 1:40,754,355...40,754,446
G
MIR3135B
microRNA 3135b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:32,749,912...32,749,979
Ensembl chr 6:32,749,912...32,749,979
G
MIR326
microRNA 326
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:75,335,092...75,335,186
Ensembl chr11:75,335,092...75,335,186
G
MIR342
microRNA 342
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:100,109,655...100,109,753
Ensembl chr14:100,109,655...100,109,753
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MIR34A
microRNA 34a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
G
MIR361
microRNA 361
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:85,903,636...85,903,707
Ensembl chr X:85,903,636...85,903,707
G
MIR374A
microRNA 374a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:74,287,286...74,287,357
Ensembl chr X:74,287,286...74,287,357
G
MIR378F
microRNA 378f
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:23,929,070...23,929,147
Ensembl chr 1:23,929,070...23,929,147
G
MIR409
microRNA 409
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378
G
MIR423
microRNA 423
IEP
miRNA:increased expression:plasma
RGD
PMID:20185794
RGD:158014892
NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
G
MIR4428
microRNA 4428
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:237,471,119...237,471,191
Ensembl chr 1:237,471,119...237,471,191
G
MIR4485
microRNA 4485
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:10,508,270...10,508,326
Ensembl chr11:10,508,270...10,508,326
G
MIR4497
microRNA 4497
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:109,833,348...109,833,436
Ensembl chr12:109,833,348...109,833,436
G
MIR454
microRNA 454
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:59,137,758...59,137,872
Ensembl chr17:59,137,758...59,137,872
G
MIR4721
microRNA 4721
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:28,843,919...28,844,007
Ensembl chr16:28,843,919...28,844,007
G
MIR4732
microRNA 4732
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:28,861,655...28,861,730
Ensembl chr17:28,861,655...28,861,730
G
MIR484
microRNA 484
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:15,643,294...15,643,372
Ensembl chr16:15,643,294...15,643,372
G
MIR494
microRNA 494
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
G
MIR5189
microRNA 5189
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:88,468,918...88,469,031
Ensembl chr16:88,468,918...88,469,031
G
MIR532
microRNA 532
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:50,003,148...50,003,238
Ensembl chr X:50,003,148...50,003,238
G
MIR574
microRNA 574
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:38,868,032...38,868,127
Ensembl chr 4:38,868,032...38,868,127
G
MIR5787
microRNA 5787
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:50,227,436...50,227,490
Ensembl chr 3:50,227,436...50,227,490
G
MIR590
microRNA 590
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:74,191,198...74,191,294
Ensembl chr 7:74,191,198...74,191,294
G
MIR6125
microRNA 6125
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:62,260,359...62,260,454
Ensembl chr12:62,260,359...62,260,454
G
MIR6132
microRNA 6132
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:117,020,211...117,020,319
Ensembl chr 7:117,020,211...117,020,319
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MIR642A
microRNA 642a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:45,674,928...45,675,024
Ensembl chr19:45,674,928...45,675,024
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MIR660
microRNA 660
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:50,013,241...50,013,337
Ensembl chr X:50,013,241...50,013,337
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MIR664B
microRNA 664b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:154,768,596...154,768,656
Ensembl chr X:154,768,596...154,768,656
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MIR6769B
microRNA 6769b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:206,474,803...206,474,864
Ensembl chr 1:206,474,803...206,474,864
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MIR6785
microRNA 6785
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:75,498,548...75,498,628
Ensembl chr17:75,498,548...75,498,628
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MIR6794
microRNA 6794
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:12,852,260...12,852,327
Ensembl chr19:12,852,260...12,852,327
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MIR6869
microRNA 6869
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr20:1,392,900...1,392,961
Ensembl chr20:1,392,900...1,392,961
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MIR6893
microRNA 6893
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:144,435,551...144,435,619
Ensembl chr 8:144,435,551...144,435,619
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MIR766
microRNA 766
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:119,646,738...119,646,848
Ensembl chr X:119,646,738...119,646,848
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MIR8485
microRNA 8485
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:50,696,172...50,696,262
Ensembl chr 2:50,696,172...50,696,262
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MIR93
microRNA 93
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:100,093,768...100,093,847
Ensembl chr 7:100,093,768...100,093,847
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MIR942
microRNA 942
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:117,094,643...117,094,728
Ensembl chr 1:117,094,643...117,094,728
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MIR96
microRNA 96
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
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MIR98
microRNA 98
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:53,556,223...53,556,341
Ensembl chr X:53,556,223...53,556,341
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MIR99B
microRNA 99b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:51,692,612...51,692,681
Ensembl chr19:51,692,612...51,692,681
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MIRLET7G
microRNA let-7g
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:52,268,278...52,268,361
Ensembl chr 3:52,268,278...52,268,361
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MIRLET7I
microRNA let-7i
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:62,603,686...62,603,769
Ensembl chr12:62,603,686...62,603,769
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MME
membrane metalloendopeptidase
ISO
RGD
PMID:12383878
RGD:13801043
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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MMP1
matrix metallopeptidase 1
IDA ISO
RGD
PMID:12892382 PMID:21866669
RGD:1582539 , RGD:7207282
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP13
matrix metallopeptidase 13
disease_progression
ISO
protein:increased expression:left ventricle (rat) associated with Hypertension
RGD
PMID:10773235 PMID:10773234
RGD:1582587 , RGD:2290467
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP14
matrix metallopeptidase 14
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2
matrix metallopeptidase 2
severity
ISO IEP
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 chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP3
matrix metallopeptidase 3
IEP
protein:increased expression:heart left ventricle, plasma
RGD
PMID:20606426
RGD:8694112
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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MMP8
matrix metallopeptidase 8
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
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MMP9
matrix metallopeptidase 9
ISO IEP
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MSTN
myostatin
ISO EXP
mRNA, protein:increased expression:myocardium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968467 PMID:16968467
RGD:2303554
NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
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MTHFD2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:74,198,615...74,217,565
Ensembl chr 2:74,186,172...74,217,565
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MTOR
mechanistic target of rapamycin kinase
IEP
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MTPN
myotrophin
ISS
MouseDO
NCBI chr 7:135,926,760...135,977,359
Ensembl chr 7:135,926,760...135,977,359
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MX1
MX dynamin like GTPase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071
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MYH6
myosin heavy chain 6
treatment
IEP IAGP ISO
mRNA:decreased expression:heart left ventricle ClinVar Annotator: match by term: Heart failure ClinVar Annotator: match by term: Congestive 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 chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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MYH7
myosin heavy chain 7
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:18088389
RGD:12792974
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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MYL2
myosin light chain 2
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:12404107 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
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MYOC
myocilin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
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MYOCD
myocardin
ISO
RGD
PMID:19850880
RGD:11251948
NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
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MYOD1
myogenic differentiation 1
treatment
ISO
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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MYOT
myotilin
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 PMID:31404076 More...
NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
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MYPN
myopalladin
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
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NCAM1
neural cell adhesion molecule 1
ISO
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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NFE2L2
NFE2 like bZIP transcription factor 2
EXP ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NGFR
nerve growth factor receptor
ISO
associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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NISCH
nischarin
IMP
RGD
PMID:12021582
RGD:1581128
NCBI chr 3:52,455,604...52,493,068
Ensembl chr 3:52,455,118...52,493,068
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NME2
NME/NM23 nucleoside diphosphate kinase 2
IEP
protein:increased expression:heart, left ventricle, sarcolemma (human)
RGD
PMID:11121795
RGD:5132888
NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:15466641 PMID:23832698
RGD:1581144 , RGD:7257598
NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
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NOS1AP
nitric oxide synthase 1 adaptor protein
ISO
mRNA:increased expression:brain
RGD
PMID:21831995
RGD:7327163
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NOX1
NADPH oxidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:100,843,324...100,874,359
Ensembl chr X:100,843,324...100,874,359
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NOX4
NADPH oxidase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
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NPPA
natriuretic peptide A
treatment severity
IEP EXP ISO
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 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
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NPPB
natriuretic peptide B
severity
IEP EXP ISO
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:17257273 PMID:1831369 PMID:11421854 More...
RGD:1580140 , RGD:1642196 , RGD:7247316 , RGD:1580139
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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NPR1
natriuretic peptide receptor 1
ISO EXP
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 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
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NPTXR
neuronal pentraxin receptor
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr22:38,818,452...38,844,028
Ensembl chr22:38,818,452...38,844,028
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NPY
neuropeptide Y
ISO
RGD
PMID:17804485
RGD:7175103
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NR3C1
nuclear receptor subfamily 3 group C member 1
treatment
ISO
RGD
PMID:21737535
RGD:7174712
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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NR3C2
nuclear receptor subfamily 3 group C member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15722665 PMID:21321305
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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NRG1
neuregulin 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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NRIP1
nuclear receptor interacting protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
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OGDHL
oxoglutarate dehydrogenase L
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379
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OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:22128088
RGD:9590202
NCBI chr X:71,533,104...71,575,892
Ensembl chr X:71,533,087...71,575,892
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OLR1
oxidized low density lipoprotein receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138
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OPA1
OPA1 mitochondrial dynamin like GTPase
IEP
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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OPRK1
opioid receptor kappa 1
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 8:53,225,724...53,251,637
Ensembl chr 8:53,225,724...53,251,637
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P2RX4
purinergic receptor P2X 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr12:121,210,129...121,234,106
Ensembl chr12:121,210,065...121,234,106
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PAMR1
peptidase domain containing associated with muscle regeneration 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr11:35,431,827...35,530,300
Ensembl chr11:35,431,823...35,530,300
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PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PCAT14
prostate cancer associated transcript 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr22:23,538,102...23,547,306
Ensembl chr22:23,536,881...23,547,797
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PCGEM1
PCGEM1 prostate-specific transcript
EXP IEP
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 2:192,749,845...192,776,899
Ensembl chr 2:192,749,845...192,776,899
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PCK1
phosphoenolpyruvate carboxykinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420
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PDE9A
phosphodiesterase 9A
severity treatment
IEP ISO
mRNA:increased expression:heart, peripheral blood mononuclear cell
RGD
PMID:33787083 PMID:28649129
RGD:240191787 , RGD:241060360
NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509
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PDGFRA
platelet derived growth factor receptor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PDPK1
3-phosphoinositide dependent protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chr16:2,538,021...2,603,188
Ensembl chr16:2,537,979...2,603,188
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PDYN
prodynorphin
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
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PEBP1
phosphatidylethanolamine binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr12:118,136,124...118,145,584
Ensembl chr12:118,136,124...118,145,584
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PGF
placental growth factor
ISO
RGD
PMID:19327525
RGD:6483590
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PHF6
PHD finger protein 6
disease_progression
IAGP
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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PKD2L2-DT
PKD2L2 divergent transcript
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 PMID:31404076 More...
NCBI chr 5:137,853,811...137,889,319
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PLA2G7
phospholipase A2 group VII
IEP
RGD
PMID:16952920
RGD:6482778
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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PLAT
plasminogen activator, tissue type
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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PLCD1
phospholipase C delta 1
ISO
RGD
PMID:11181012
RGD:2300431
NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
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PLD2
phospholipase D2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chr17:4,807,152...4,823,430
Ensembl chr17:4,807,152...4,823,434
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PLN
phospholamban
treatment
ISO
associated with Hypertension associated with Myocardial Infarction
RGD
PMID:22970977 PMID:22947202
RGD:7327181 , RGD:7327182
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
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PNPLA2
patatin like phospholipase domain containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35218467
NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
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POMC
proopiomelanocortin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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PON1
paraoxonase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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POR
cytochrome p450 oxidoreductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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POSTN
periostin
treatment
IEP ISO
mRNA:increased expression:heart
RGD
PMID:16414453 PMID:15381649
RGD:10040951 , RGD:10040999
NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
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PPARG
peroxisome proliferator activated receptor gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPARGC1A
PPARG coactivator 1 alpha
onset
ISO ISS EXP
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 chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PPM1K
protein phosphatase, Mg2+/Mn2+ dependent 1K
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:88,257,620...88,284,561
Ensembl chr 4:88,257,620...88,284,769
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PPP1CA
protein phosphatase 1 catalytic subunit alpha
ISO
RGD
PMID:12024026
RGD:737728
NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183
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PPP1CC
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr12:110,708,376...110,742,891
Ensembl chr12:110,719,680...110,742,939
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PPP1R1A
protein phosphatase 1 regulatory inhibitor subunit 1A
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chr12:54,579,246...54,588,659
Ensembl chr12:54,575,387...54,588,659
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PPP2CA
protein phosphatase 2 catalytic subunit alpha
IEP
mRNA:increased expression:vastus lateralis muscle (human)
RGD
PMID:14567976
RGD:8693707
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
IDA
RGD
PMID:10830164
RGD:1580714
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
IAGP
ClinVar Annotator: match by term: Heart failure ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:21409595 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532
NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
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PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
IDA
RGD
PMID:10830164
RGD:1580714
NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874
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PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:107,044,705...107,161,811
Ensembl chr 7:107,044,705...107,161,811
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PRKCA
protein kinase C alpha
ISO
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
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PRKCB
protein kinase C beta
ISO
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
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PRL
prolactin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PTGIS
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:27802898
RGD:401960097
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTGS1
prostaglandin-endoperoxide synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTH
parathyroid hormone
IEP EXP
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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PTPRF
protein tyrosine phosphatase receptor type F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
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RAC1
Rac family small GTPase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAMP2
receptor activity modifying protein 2
ISO
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
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RAPGEF3
Rap guanine nucleotide exchange factor 3
IEP
mRNA, protein:increased expression:left ventricle myocardium (human)
RGD
PMID:18323524
RGD:9835356
NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
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RBFOX2
RNA binding fox-1 homolog 2
ISO
protein:decreased expression:heart (mouse)
RGD
PMID:25753418
RGD:329845877
NCBI chr22:35,738,736...36,028,824
Ensembl chr22:35,738,736...36,028,824
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RBM10
RNA binding motif protein 10
ISO
protein:decreased expression:heart
RGD
PMID:30257214
RGD:151667449
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
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RBM20
RNA binding motif protein 20
IAGP
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532 PMID:31376648
NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468
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RBP4
retinol binding protein 4
treatment
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22785609
RGD:329845590
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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REN
renin
exacerbates
EXP IEP
CTD Direct Evidence: marker/mechanism protein:increased activity:blood plasma (human)
CTD RGD
PMID:1647690 PMID:7034517 PMID:20811386 PMID:17526990
RGD:126908011
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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RETN
resistin
IEP EXP
associated with Coronary Disease CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22240747
RGD:7207075
NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
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RMST
rhabdomyosarcoma 2 associated transcript
EXP IEP
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 chr12:97,462,804...97,565,035
Ensembl chr12:97,430,884...97,598,415
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RNLS
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:21297953
RGD:7327162
NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530
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RNY5
RNA, Ro60-associated Y5
severity
IEP
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr 7:148,941,488...148,941,571
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ROCK2
Rho associated coiled-coil containing protein kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330
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RPPH1
ribonuclease P RNA component H1
severity
IEP
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr14:20,343,071...20,343,411
Ensembl chr14:20,343,075...20,343,407
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RRAD
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
IEP
mRNA, protein:decreased expression:heart
RGD
PMID:18056528
RGD:2311701
NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,685...66,925,535
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RSAD2
radical S-adenosyl methionine domain containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:6,865,885...6,898,239
Ensembl chr 2:6,865,557...6,898,239
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RYR1
ryanodine receptor 1
IDA ISO
RGD
PMID:29593014 PMID:29593014
RGD:329813079 , RGD:329813079
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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RYR2
ryanodine receptor 2
ISO IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar RGD
PMID:25741868 PMID:28404607 PMID:28492532 PMID:16483256
RGD:1599251
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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SELP
selectin P
ISO
RGD
PMID:19193626
RGD:2312309
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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SERPINE1
serpin family E member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SIRT1
sirtuin 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SIRT3
sirtuin 3
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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SLC22A5
solute carrier family 22 member 5
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613
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SLC2A4
solute carrier family 2 member 4
severity
IEP
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
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SLC6A4
solute carrier family 6 member 4
IAGP
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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SLC8A1
solute carrier family 8 member A1
ISO
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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SLC9A1
solute carrier family 9 member A1
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027022 PMID:18776042
RGD:6771337
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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SMC1A
structural maintenance of chromosomes 1A
disease_progression
IAGP
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SNCA
synuclein alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SOD1
superoxide dismutase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD2
superoxide dismutase 2
EXP ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOD3
superoxide dismutase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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SOX2
SRY-box transcription factor 2
ISO
RGD
PMID:34321385
RGD:155882552
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX2-OT
SOX2 overlapping transcript
severity
EXP IEP
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 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880
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SOX4
SRY-box transcription factor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SPHKAP
SPHK1 interactor, AKAP domain containing
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:227,979,955...228,181,687
Ensembl chr 2:227,979,955...228,181,687
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SRA1
steroid receptor RNA activator 1
severity
IEP
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677
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SRF
serum response factor
IEP
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
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SRI
sorcin
ISO
protein:decreased expression:cardiac muscle cell associated with Hypertension
RGD
PMID:20945956 PMID:12754254
RGD:7327198 , RGD:7327200
NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
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SRSF2
serine and arginine rich splicing factor 2
disease_progression
IAGP
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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STAT3
signal transducer and activator of transcription 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TBX20
T-box transcription factor 20
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
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TH
tyrosine hydroxylase
ISO
protein:increased expression:paraventricular thalamic nucleus (rat)
RGD
PMID:21287352 PMID:7715703
RGD:5128674 , RGD:737737
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr X:47,582,436...47,586,789
Ensembl chr X:47,582,408...47,586,789
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
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TLR2
toll like receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TMEM71
transmembrane protein 71
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:132,705,839...132,775,999
Ensembl chr 8:132,685,007...132,760,712
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TNF
tumor necrosis factor
treatment severity
TAS ISS ISO EXP IEP
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction;
MouseDO CTD RGD
PMID:15135663 PMID:15231041 PMID:17337591 PMID:18034274 PMID:29959987 PMID:14685701 PMID:28939262 PMID:15210453 PMID:11668085 PMID:11100001 More...
RGD:1580317 , RGD:14975271 , RGD:1580213 , RGD:7401242 , RGD:7401241
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TNFRSF1A
TNF receptor superfamily member 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IMP
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TNNT2
troponin T2, cardiac type
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
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TOMM70
translocase of outer mitochondrial membrane 70
IEP ISO
mRNA:decreased expression:heart protein:increased serine phosphorylation:heart, mitochondrion
RGD
PMID:25022898 PMID:24395194
RGD:13464131 , RGD:13464132
NCBI chr 3:100,363,431...100,401,089
Ensembl chr 3:100,363,431...100,401,089
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:33495812
RGD:127229929
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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TRPM4
transient receptor potential cation channel subfamily M member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33594499
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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TTN
titin
IAGP
ClinVar Annotator: match by term: Heart failure 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 More...
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TTN-AS1
TTN antisense RNA 1
IAGP
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:24231549 PMID:24271327 PMID:24569025 PMID:24578547 PMID:25741868 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27194543 PMID:27843123 PMID:28256728 PMID:28492532 PMID:29361395 More...
NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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TTR
transthyretin
IAGP
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 chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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TUBB
tubulin beta class I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
G
TXNRD1
thioredoxin reductase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307
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UCN
urocortin
IEP
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
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UCN2
urocortin 2
IEP EXP
mRNA, protein:increased expression:myocardium (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:16330704 PMID:12076554
RGD:5508210
NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
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UCP1
uncoupling protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
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UCP2
uncoupling protein 2
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120 PMID:20193183
RGD:7204424 , RGD:7204426
NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
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UCP3
uncoupling protein 3
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
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UTS2
urotensin 2
severity
IEP
protein:increased expression:plasma
RGD
PMID:16364499 PMID:12791592
RGD:2306804 , RGD:1580809
NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512
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VCL
vinculin
IAGP
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567
NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
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VEGFA
vascular endothelial growth factor A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VWF
von Willebrand factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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XAF1
XIAP associated factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:6,755,447...6,775,647
Ensembl chr17:6,755,447...6,775,647
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XDH
xanthine dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19933411
NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
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YY1
YY1 transcription factor
IDA
RGD
PMID:12754214
RGD:1580831
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZEB2-AS1
ZEB2 antisense RNA 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:144,519,614...144,520,899
Ensembl chr 2:144,517,978...144,521,477
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ZFPM2
zinc finger protein, FOG family member 2
exacerbates
ISO
RGD
PMID:18658259
RGD:155882484
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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PPA2
inorganic pyrophosphatase 2
IAGP EXP
ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:34400813 More...
NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:26010685
RGD:12791997
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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AKAP9
A-kinase anchoring protein 9
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20363892
RGD:5509101
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ANK2
ankyrin 2
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532 PMID:28600387 PMID:36413997
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20817017 PMID:21383000 PMID:22840528 PMID:25527503 PMID:25741868 PMID:28492532 More...
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CEP85L
centrosomal protein 85 like
IAGP
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 chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
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DPP6
dipeptidyl peptidase like 6
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
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DSC2
desmocollin 2
IAGP
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 chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
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DSG2
desmoglein 2
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20400443 PMID:23861362 PMID:24070718 PMID:25741868 PMID:28492532 PMID:28600387 More...
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
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DSG2-AS1
DSG2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
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DSP
desmoplakin
IAGP
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 chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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DYNLL1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
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EP300
E1A binding protein p300
IEP
associated with Diabetes Mellitus; mRNA:increased expression:blood (human)
RGD
PMID:19577077
RGD:2312286
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:17728042
RGD:5688386
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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ERBB4
erb-b2 receptor tyrosine kinase 4
treatment
ISO
associated with hypothermia;
RGD
PMID:26647012
RGD:405650401
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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GAS5
growth arrest specific 5
ameliorates
ISO
RNA:increased expression:hippocampus, cortex;
RGD
PMID:30824348 PMID:30824348
RGD:155882547 , RGD:155882547
NCBI chr 1:173,863,901...173,869,045
Ensembl chr 1:173,858,559...173,868,882
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL18
interleukin 18
ISO
RGD
PMID:18679114
RGD:4889454
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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INS
insulin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
protein:increased expression:cerebellum (rat)
RGD
PMID:21859719
RGD:6480675
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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LOC126807136
MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr 4:113,353,775...113,354,974
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LOC126807137
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532 PMID:36413997
NCBI chr 4:113,355,404...113,356,603
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LOC126861896
BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:23,385,695...23,386,894
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MIR23A
microRNA 23a
ISO
RNA:decreased expression:hippocampus, cortex;
RGD
PMID:30824348
RGD:155882547
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
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MYBPC3
myosin binding protein C3
IAGP
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 chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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MYH6
myosin heavy chain 6
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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MYOM1
myomesin 1
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
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NRG1
neuregulin 1
treatment
ISO
associated with hypothermia;
RGD
PMID:26647012
RGD:405650401
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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PLN
phospholamban
IAGP
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 chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
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RBM20
RNA binding motif protein 20
IAGP
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 chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468
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RYR2
ryanodine receptor 2
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
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 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SLMAP
sarcolemma associated protein
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
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SOD1
superoxide dismutase 1
ISO
RGD
PMID:15843790
RGD:1581221
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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TNF
tumor necrosis factor
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TRPM4
transient receptor potential cation channel subfamily M member 4
treatment
ISO IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar RGD
PMID:28492532 PMID:26010685
RGD:12791997
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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VCL
vinculin
IAGP
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
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AQP1
aquaporin 1 (Colton blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
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IFT122
intraflagellar transport 122
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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UBIAD1
UbiA prenyltransferase domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 1:11,273,198...11,299,574
Ensembl chr 1:11,273,198...11,296,049
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HAVCR1
hepatitis A virus cellular receptor 1
susceptibility
IEP ISO
protein:increased expression:kidney tubule:
RGD
PMID:23220287 PMID:22367506
RGD:7245477 , RGD:7245950
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
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MIR21
microRNA 21
ameliorates
ISO
RGD
PMID:28760335
RGD:41410821
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MYOCD
myocardin
ameliorates
IEP ISO
mRNA,protein:increased expression:left ventricle
RGD
PMID:30971740 PMID:30971740
RGD:401793740 , RGD:401793740
NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949
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AGER
advanced glycosylation end-product specific receptor
IEP
RGD
PMID:21450080
RGD:6767563
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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CX3CL1
C-X3-C motif chemokine ligand 1
IDA
RGD
PMID:20669672
RGD:4143386
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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IL27
interleukin 27
disease_progression
IEP
associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human)
RGD
PMID:27403033
RGD:126790503
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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TNF
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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ACE
angiotensin I converting enzyme
severity susceptibility treatment
IAGP ISO
DNS:insertion/deletion:intron: (rs1799752) DNA:insertion/deletion:intron 16:
RGD
PMID:19752885 PMID:19021695 PMID:14757777
RGD:40400704 , RGD:40400906 , RGD:40400723
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADRA1D
adrenoceptor alpha 1D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:4,220,630...4,249,287
Ensembl chr20:4,220,630...4,249,287
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AKIP1
A-kinase interacting protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:8,911,189...8,920,079
Ensembl chr11:8,911,139...8,920,084
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ALOX15
arachidonate 15-lipoxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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ANKRD23
ankyrin repeat domain 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:96,837,912...96,844,021
Ensembl chr 2:96,824,526...96,857,934
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APLN
apelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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CDC25B
cell division cycle 25B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
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COL4A1
collagen type IV alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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COL6A1
collagen type VI alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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COL8A1
collagen type VIII alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:99,638,594...99,799,217
Ensembl chr 3:99,638,475...99,799,226
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CREG1
cellular repressor of E1A stimulated genes 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:167,541,013...167,553,762
Ensembl chr 1:167,529,117...167,553,805
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CXCL3
C-X-C motif chemokine ligand 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
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CYRIB
CYFIP related Rac1 interactor B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:129,839,593...130,017,129
Ensembl chr 8:129,839,593...130,017,504
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ELK3
ETS transcription factor ELK3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr12:96,194,375...96,269,824
Ensembl chr12:96,194,375...96,269,824
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EPN3
epsin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr17:50,532,735...50,543,750
Ensembl chr17:50,532,682...50,543,750
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FHL1
four and a half LIM domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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FIBIN
fin bud initiation factor homolog
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:26,994,112...26,997,087
Ensembl chr11:26,994,112...26,997,087
G
FXYD3
FXYD domain containing ion transport regulator 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324
G
HAMP
hepcidin antimicrobial peptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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KANK2
KN motif and ankyrin repeat domains 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
G
KLF9
KLF transcription factor 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:70,384,604...70,414,657
Ensembl chr 9:70,384,604...70,414,657
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LEPR
leptin receptor
treatment
ISO
DNA:mutations:cds: : (rat)
RGD
PMID:33568522
RGD:401965412
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
G
MS4A6A
membrane spanning 4-domains A6A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:60,171,607...60,184,666
Ensembl chr11:60,172,015...60,184,666
G
MYH6
myosin heavy chain 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
G
MYH7
myosin heavy chain 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NPPA
natriuretic peptide A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
G
NUPR1
nuclear protein 1, transcriptional regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr16:28,532,708...28,538,974
Ensembl chr16:28,532,708...28,539,008
G
PIK3IP1
phosphoinositide-3-kinase interacting protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr22:31,281,593...31,292,534
Ensembl chr22:31,281,594...31,292,534
G
PLXND1
plexin D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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PTP4A2
protein tyrosine phosphatase 4A2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:31,906,421...31,938,368
Ensembl chr 1:31,906,421...31,944,856
G
PTPN3
protein tyrosine phosphatase non-receptor type 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
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SFRP1
secreted frizzled related protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:41,261,962...41,309,473
Ensembl chr 8:41,261,962...41,309,473
G
SIPA1L1
signal induced proliferation associated 1 like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:71,320,476...71,741,209
Ensembl chr14:71,320,449...71,741,229
G
TRDN
triadin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
G
WDR45
WD repeat domain 45
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:49,074,442...49,101,178
Ensembl chr X:49,074,433...49,101,170
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ZNF532
zinc finger protein 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr18:58,862,924...58,986,480
Ensembl chr18:58,862,600...58,986,480
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CPS1
carbamoyl-phosphate synthase 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD OMIM ClinVar
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: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 More...
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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ADORA1
adenosine A1 receptor
IMP
RGD
PMID:21388992
RGD:5129099
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
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ADRB2
adrenoceptor beta 2
IAGP
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 chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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LOC129994952
ATAC-STARR-seq lymphoblastoid silent region 16492
IAGP
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 chr 5:148,826,740...148,826,879
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ABI2
abl interactor 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728
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ACADL
acyl-CoA dehydrogenase long chain
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADAM23
ADAM metallopeptidase domain 23
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127
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ADORA2A
adenosine A2a receptor
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BMPR2
bone morphogenetic protein receptor type 2
EXP IAGP ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
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: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:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 More...
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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C2orf80
chromosome 2 open reading frame 80
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,165,347...208,190,030
Ensembl chr 2:208,165,343...208,190,030
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CARF
calcium responsive transcription factor
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263
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CAV1
caveolin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCNYL1
cyclin Y like 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,711,640...207,756,174
Ensembl chr 2:207,711,540...207,761,839
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CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CDK15
cyclin dependent kinase 15
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550
G
CMKLR2
chemerin chemokine-like receptor 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,175,316...206,217,912
Ensembl chr 2:206,175,316...206,218,047
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CPO
carboxypeptidase O
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,939,518...206,969,474
Ensembl chr 2:206,939,518...206,969,474
G
CPS1
carbamoyl-phosphate synthase 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CREB1
cAMP responsive element binding protein 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
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CRYGA
crystallin gamma A
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589
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CRYGB
crystallin gamma B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158
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CRYGC
crystallin gamma C
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
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CRYGD
crystallin gamma D
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026
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DYTN
dystrotelin
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,651,621...206,718,396
Ensembl chr 2:206,651,621...206,721,570
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EEF1B2
eukaryotic translation elongation factor 1 beta 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928
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FAM117B
family with sequence similarity 117 member B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
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FASTKD2
FAST kinase domains 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189
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FBXO32
F-box protein 32
IEP
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 8:123,497,889...123,541,206
Ensembl chr 8:123,497,889...123,541,206
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FGFR2
fibroblast growth factor receptor 2
IEP
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FOXF1
forkhead box F1
IAGP
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 chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
G
FZD5
frizzled class receptor 5
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906
G
FZD7
frizzled class receptor 7
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441
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HDAC1
histone deacetylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
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HDAC4
histone deacetylase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDAC5
histone deacetylase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702
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ICA1L
islet cell autoantigen 1 like
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766
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ICOS
inducible T cell costimulator
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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ID1
inhibitor of DNA binding 1
IEP
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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INO80D
INO80 complex subunit D
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303
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KANSL1L
KAT8 regulatory NSL complex subunit 1 like
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,021,421...210,172,760
Ensembl chr 2:210,021,421...210,171,409
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KCNK3
potassium two pore domain channel subfamily K member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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KLF7
KLF transcription factor 7
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,074,137...207,173,851
Ensembl chr 2:207,074,137...207,173,856
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LANCL1
LanC like glutathione S-transferase 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,431,251...210,477,584
Ensembl chr 2:210,427,131...210,477,652
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LOC129935434
ATAC-STARR-seq lymphoblastoid silent region 12244
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:19223935 PMID:25741868 PMID:28492532
NCBI chr 2:202,376,775...202,376,834
G
MAP2
microtubule associated protein 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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MDH1B
malate dehydrogenase 1B
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,737,763...206,765,328
Ensembl chr 2:206,737,763...206,765,328
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METTL21A
methyltransferase 21A, HSPA lysine
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928
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MFN1
mitofusin 1
IEP
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
G
MFN2
mitofusin 2
IEP
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MIR23A
microRNA 23a
IEP
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
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MYL1
myosin light chain 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174
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NBEAL1
neurobeachin like 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378
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NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
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NOP58
NOP58 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
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NRP2
neuropilin 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:205,682,501...205,798,131
Ensembl chr 2:205,681,990...205,798,133
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PARD3B
par-3 family cell polarity regulator beta
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:204,545,475...205,620,162
Ensembl chr 2:204,545,475...205,620,162
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PIKFYVE
phosphoinositide kinase, FYVE-type zinc finger containing
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,266,056...208,358,746
Ensembl chr 2:208,266,255...208,358,746
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PLEKHM3
pleckstrin homology domain containing M3
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:207,821,288...208,025,527
Ensembl chr 2:207,821,288...208,025,527
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PPARG
peroxisome proliferator activated receptor gamma
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PTGIS
prostaglandin I2 synthase
IAGP
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 chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTH2R
parathyroid hormone 2 receptor
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:208,359,692...208,494,506
Ensembl chr 2:208,359,714...208,854,503
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335
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RFC1
replication factor C subunit 1
HEP
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375
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RPE
ribulose-5-phosphate-3-epimerase
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:210,002,638...210,022,260
Ensembl chr 2:210,002,565...210,022,260
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RYR1
ryanodine receptor 1
IDA
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SMAD9
SMAD family member 9
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SOX17
SRY-box transcription factor 17
IEP
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SUMO1
small ubiquitin like modifier 1
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TNFSF4
TNF superfamily member 4
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
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TRIM63
tripartite motif containing 63
IEP
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436
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UNC80
unc-80 homolog, NALCN channel complex subunit
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300
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VIP
vasoactive intestinal peptide
ISS
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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WDR12
WD repeat domain 12
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798
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ZDBF2
zinc finger DBF-type containing 2
IAGP
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427
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ABCA3
ATP binding cassette subfamily A member 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 PMID:18676873 PMID:22145626 PMID:22304854 PMID:22434821 PMID:22435821 PMID:22800827 PMID:22866751 PMID:23166334 PMID:23625987 PMID:24033266 PMID:24136335 PMID:24871971 PMID:25073622 PMID:25553246 PMID:25741868 PMID:27374344 PMID:27516224 PMID:28034695 PMID:28492532 PMID:29431110 PMID:29505158 PMID:29566461 PMID:30609409 PMID:30755392 PMID:31589614 PMID:31980526 PMID:32238781 PMID:32692933 PMID:33110422 PMID:33526094 PMID:34132118 PMID:34715861 PMID:35170262 PMID:35626240 More...
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746
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ABCC8
ATP binding cassette subfamily C member 8
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25117148 PMID:25741868
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ABI2
abl interactor 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728
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ACVRL1
activin A receptor like type 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:9245985 PMID:11484689 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15517393 PMID:15687131 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16690726 PMID:16705692 PMID:16752392 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22632830 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23722869 PMID:23919827 PMID:24033266 PMID:24753439 PMID:25557927 PMID:25741868 PMID:25970827 PMID:26387786 PMID:27316748 PMID:27587546 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:29650961 PMID:29743074 PMID:30260738 PMID:30303062 PMID:30578383 PMID:31019026 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:32899377 PMID:34872578 More...
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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AL162586.1
novel transcript
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:28492532 PMID:30029678 PMID:32581362 More...
NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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AOX1
aldehyde oxidase 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064
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ATP13A3
ATPase 13A3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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BMPR1A
bone morphogenetic protein receptor type 1A
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BMPR2
bone morphogenetic protein receptor type 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension | 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: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:25326637 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:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 More...
NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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BZW1
basic leucine zipper and W2 domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338
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C2CD6
C2 calcium dependent domain containing 6
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178
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CARF
calcium responsive transcription factor
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263
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CASP10
caspase 10
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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CASP8
caspase 8
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CDK15
cyclin dependent kinase 15
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550
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CFLAR
CASP8 and FADD like apoptosis regulator
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
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CLK1
CDC like kinase 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,853,009...200,864,658
Ensembl chr 2:200,853,009...200,864,691
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026
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EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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ENG
endoglin
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16690726 PMID:16705692 PMID:16754821 PMID:17384219 PMID:17786384 PMID:18498373 PMID:19270816 PMID:21158752 PMID:22991266 PMID:23298310 PMID:23722869 PMID:24033266 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:28492532 PMID:29650961 PMID:30029678 PMID:30665703 PMID:31019283 PMID:31727138 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32933640 PMID:33919892 PMID:34872578 More...
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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FAM117B
family with sequence similarity 117 member B
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
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FLACC1
flagellum associated containing coiled-coil domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398
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FZD7
frizzled class receptor 7
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441
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GDF2
growth differentiation factor 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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GJB2
gap junction protein beta 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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HYCC2
hyccin PI4KA lipid kinase complex subunit 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,973,718...201,071,671
Ensembl chr 2:200,973,718...201,071,671
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HYDIN
HYDIN axonemal central pair apparatus protein
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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ICA1L
islet cell autoantigen 1 like
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766
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ICOS
inducible T cell costimulator
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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KCNA5
potassium voltage-gated channel subfamily A member 5
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:25741868 PMID:28492532 More...
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
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KCNK3
potassium two pore domain channel subfamily K member 3
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23883380 PMID:32581362
NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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KCTD18
potassium channel tetramerization domain containing 18
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,488,958...200,510,068
Ensembl chr 2:200,488,958...200,519,784
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LOC129388983
MPRA-validated peak4014 silencer
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,312,153...202,312,353
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LOC129935429
ATAC-STARR-seq lymphoblastoid active region 16999
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,375,175...202,375,334
G
LOC129935430
ATAC-STARR-seq lymphoblastoid active region 17000
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,375,445...202,375,734
G
LOC129935431
ATAC-STARR-seq lymphoblastoid silent region 12241
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,375,825...202,375,874
G
LOC129935432
ATAC-STARR-seq lymphoblastoid silent region 12242
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,376,025...202,376,514
G
LOC129935433
ATAC-STARR-seq lymphoblastoid silent region 12243
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,376,645...202,376,704
G
LOC129935434
ATAC-STARR-seq lymphoblastoid silent region 12244
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:19223935 PMID:23579436 PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr 2:202,376,775...202,376,834
G
LOC129935435
ATAC-STARR-seq lymphoblastoid active region 17001
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:11115378 PMID:16429403 PMID:16728714 PMID:18356561 PMID:19555857 PMID:20534176 PMID:21801371 PMID:23298310 PMID:23579436 PMID:23675998 PMID:26387786 PMID:32581362 More...
NCBI chr 2:202,377,675...202,377,744
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LOC129935436
ATAC-STARR-seq lymphoblastoid silent region 12245
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:16429403 PMID:16728714 PMID:18356561 PMID:20534176 PMID:21737554 PMID:21801371 PMID:23579436 PMID:26387786 PMID:32581362 More...
NCBI chr 2:202,545,681...202,545,750
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LOC130009576
ATAC-STARR-seq lymphoblastoid silent region 5268
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr13:36,920,149...36,920,218
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MPP4
MAGUK p55 scaffold protein 4
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694
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NBEAL1
neurobeachin like 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378
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NDUFB3
NADH:ubiquinone oxidoreductase subunit B3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750
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NIF3L1
NGG1 interacting factor 3 like 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,889,327...200,903,932
Ensembl chr 2:200,889,327...200,903,938
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NOP58
NOP58 ribonucleoprotein
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:23579436 PMID:32581362
NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
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NOTCH1
notch receptor 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20951801 PMID:20981092 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28387797 PMID:28492532 PMID:29641532 PMID:30059548 PMID:30582441 PMID:35288444 More...
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NOTCH3
notch receptor 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 PMID:26467025 PMID:26894465 PMID:28492532 More...
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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ORC2
origin recognition complex subunit 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,908,977...200,963,660
Ensembl chr 2:200,908,977...200,963,680
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PAH
phenylalanine hydroxylase
IAGP
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 chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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PHF6
PHD finger protein 6
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PMS2
PMS1 homolog 2, mismatch repair system component
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 PMID:20205264 PMID:21239990 PMID:21376568 PMID:22658618 PMID:23012243 PMID:24362816 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26895986 PMID:27273229 PMID:28492532 PMID:29489754 PMID:31433215 PMID:33753322 More...
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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PPIL3
peptidylprolyl isomerase like 3
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,870,907...200,889,291
Ensembl chr 2:200,870,907...200,889,303
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335
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SGO2
shugoshin 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,526,142...200,584,096
Ensembl chr 2:200,510,008...200,584,096
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SMAD1
SMAD family member 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
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SMAD1-AS1
SMAD1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 4:145,514,578...145,517,194
Ensembl chr 4:145,514,615...145,517,118
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25559809 PMID:25741868 PMID:26387786 PMID:26467025 PMID:28492532 PMID:29684080 PMID:31515488 More...
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD9
SMAD family member 9
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SNORD11
small nucleolar RNA, C/D box 11
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,293,051...202,293,134
Ensembl chr 2:202,293,051...202,293,134
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SNORD11B
small nucleolar RNA, C/D box 11B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,291,317...202,291,428
Ensembl chr 2:202,291,332...202,291,421
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SNORD70
small nucleolar RNA, C/D box 70
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,276,431...202,276,518
Ensembl chr 2:202,276,431...202,276,518
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SNORD70B
small nucleolar RNA, C/D box 70B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 2:202,278,113...202,278,187
Ensembl chr 2:202,278,108...202,278,192
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SOX17
SRY-box transcription factor 17
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SPATS2L
spermatogenesis associated serine rich 2 like
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:200,305,879...200,482,264
Ensembl chr 2:200,305,881...200,482,264
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STRADB
STE20 related adaptor beta
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846
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SUMO1
small ubiquitin like modifier 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TBX4
T-box transcription factor 4
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 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 chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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TMEM237
transmembrane protein 237
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TOPBP1
DNA topoisomerase II binding protein 1
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:25741868
NCBI chr 3:133,600,238...133,661,941
Ensembl chr 3:133,598,175...133,662,380
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TRAK2
trafficking kinesin protein 2
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500
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WDR12
WD repeat domain 12
IAGP
ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar
PMID:32581362
NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798
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SMAD9
SMAD family member 9
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
ClinVar OMIM
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 chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CAV1
caveolin 1
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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LOC129999168
ATAC-STARR-seq lymphoblastoid silent region 18557
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:28492532
NCBI chr 7:116,526,018...116,526,407
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LOC129999169
ATAC-STARR-seq lymphoblastoid silent region 18558
IAGP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:28492532
NCBI chr 7:116,526,638...116,526,737
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KCNK3
potassium two pore domain channel subfamily K member 3
IAGP
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 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
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ATP13A3
ATPase 13A3
IAGP
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 chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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ACSL3
acyl-CoA synthetase long chain family member 3
disease_progression
IAGP
RGD
PMID:22661490
RGD:13831296
NCBI chr 2:222,861,036...222,944,639
Ensembl chr 2:222,860,942...222,944,639
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ADRA2B
adrenoceptor alpha 2B
IAGP
RGD
PMID:12535806
RGD:1559314
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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AKAP9
A-kinase anchoring protein 9
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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ANK2
ankyrin 2
IAGP
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12571597
RGD:734572
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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APOB
apolipoprotein B
IEP
RGD
PMID:17045270
RGD:1601197
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CACNA1C-AS1
CACNA1C antisense RNA 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
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CEP85L
centrosomal protein 85 like
IAGP
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 chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
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DPP6
dipeptidyl peptidase like 6
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
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DSG2
desmoglein 2
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
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DSG2-AS1
DSG2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
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DSP
desmoplakin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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GJA1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GPD1L
glycerol-3-phosphate dehydrogenase 1 like
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532
NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
IAGP
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 chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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IL6
interleukin 6
susceptibility
IEP
RGD
PMID:23906927
RGD:12792237
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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ITGB3
integrin subunit beta 3
IAGP
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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KCNH2
potassium voltage-gated channel subfamily H member 2
IAGP
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 PMID:26704558 PMID:28492532 PMID:29725305 PMID:32475984 More...
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
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KCNQ1
potassium voltage-gated channel subfamily Q member 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
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KNG1
kininogen 1
susceptibility
IAGP
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
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LMNA
lamin A/C
EXP IAGP
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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LOC110121269
VISTA enhancer hs2177
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:16712702 PMID:19841300 PMID:19862833 PMID:20102864 PMID:22581653 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26746457 PMID:27000522 PMID:28492532 PMID:32880476 PMID:33906374 More...
NCBI chr 3:38,578,362...38,581,496
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MT-TT
mitochondrially encoded tRNA-Thr (ACN)
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 PMID:29760464 PMID:30236074 More...
NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
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MYBPC3
myosin binding protein C3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
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MYH6
myosin heavy chain 6
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24119082 PMID:25741868 PMID:27194543 PMID:28088328 PMID:28492532 More...
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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MYH7
myosin heavy chain 7
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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MYOM1
myomesin 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
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NEBL
nebulette
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
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PKP2
plakophilin 2
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444
NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
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PLN
phospholamban
IAGP
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 chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
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RYR2
ryanodine receptor 2
IAGP EXP
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest CTD Direct Evidence: marker/mechanism
ClinVar CTD
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 chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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SCN3B
sodium voltage-gated channel beta subunit 3
IAGP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Sudden cardiac arrest
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 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SLC25A4
solute carrier family 25 member 4
IAGP
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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SP4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chr 7:21,428,083...21,514,822
Ensembl chr 7:21,428,043...21,514,822
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TMEM43
transmembrane protein 43
EXP IAGP
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 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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TNNI3
troponin I3, cardiac type
IAGP
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
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TNNT2
troponin T2, cardiac type
EXP IAGP
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 chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
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TRPM4
transient receptor potential cation channel subfamily M member 4
IAGP
ClinVar Annotator: match by term: Sudden cardiac death ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 PMID:26350513 PMID:28074886 PMID:28492532 PMID:30142439 More...
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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TTN
titin
IAGP
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 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TTN-AS1
TTN antisense RNA 1
IAGP
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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PPA2
inorganic pyrophosphatase 2
IAGP EXP
ClinVar Annotator: match by term: Sudden cardiac failure, infantile CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:33826954 PMID:34400813 More...
NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
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ANKRD1
ankyrin repeat domain 1
IAGP
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
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BMP10
bone morphogenetic protein 10
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397
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DSP
desmoplakin
IAGP
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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HSPA1A
heat shock protein family A (Hsp70) member 1A
disease_progression
IEP
protein:increased expression:serum:
RGD
PMID:23564583
RGD:7257646
NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
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NPPB
natriuretic peptide B
IEP IDA
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23725445 PMID:23122795
RGD:7246908 , RGD:7247627
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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TTN
titin
IAGP
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 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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