RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: congestive heart failure
Accession: DOID:6000
browse the term
Definition: A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (DO)
Synonyms: exact_synonym: CHF; Cardiac Failure; Heart Decompensation; Heart Failure; Myocardial Failure; congestive cardiac failure; congestive heart disease; weak heart
narrow_synonym: Chronic Heart Failure; advanced heart failure; high output heart failure; left sided heart failure; moderate heart failure; right sided heart failure; symptomatic heart failure
related_synonym: Beta-2-adrenoreceptor agonist, reduced response to; Congestive heart failure and beta-blocker response, modifier of; Congestive heart failure, modifier of
primary_id: MESH:D006333
xref: EFO:0000373 ; EFO:0003144 ; EFO:0003145 ; EFO:0003146 ; EFO:0003148 ; EFO:0003149 ; ICD10CM:I50 ; ICD10CM:I50.9 ; ICD9CM:428 ; ICD9CM:428.0 ; NCI:C3080 ; NCI:C50577
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
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ACAA1
acetyl-CoA acyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:38,020,439...38,035,341
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ACACA
acetyl-CoA carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
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ACADS
acyl-CoA dehydrogenase short chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chr12:118,309,303...118,323,489
Ensembl chr12:121,682,113...121,696,376
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ACAN
aggrecan
ISO
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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ACE
angiotensin I converting enzyme
treatment
ISO
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction associated with Hypertension
RGD CTD
PMID:15894569 PMID:18586661 PMID:19620082 PMID:22123369
RGD:12859272 RGD:2325224 RGD:6893472
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ACE2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:heart (human)
CTD MouseDO RGD
PMID:25973029 PMID:32227090
RGD:40818416
NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891
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ACLY
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:15,385,335...15,447,269
Ensembl chr17:15,615,994...15,664,800
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ACTN2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
associated with cardiovascular disease; protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:18192035 PMID:19367012 PMID:22032915 PMID:26670611
RGD:5686388 RGD:5686806
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
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ADM
adrenomedullin
ISO
RGD
PMID:12623952
RGD:704370
NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
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ADRA2C
adrenoceptor alpha 2C
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion: :322_325del(human)
CTD RGD
PMID:12374873
RGD:1300355
NCBI chr 4:3,904,346...3,906,577
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ADRB1
adrenoceptor beta 1
ISO
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of
ClinVar
PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726
NCBI chr10:110,642,491...110,646,595
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ADRB2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to
ClinVar
PMID:8383511 PMID:15284533 PMID:16596417
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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ADRB3
adrenoceptor beta 3
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:left ventricle, myocardium (human) protein:increased expression:heart ventricle (rat)
CTD RGD
PMID:11273992 PMID:15009959 PMID:17440824 PMID:21549119
RGD:5684398 RGD:5684917
NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
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AGER
advanced glycosylation end-product specific receptor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AGT
angiotensinogen
onset severity treatment
ISO
DNA:polymorphisms: :p.M235T, p.T174M (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum
RGD CTD
PMID:1330361 PMID:12025466 PMID:17145981 PMID:20811386 PMID:21963897 PMID:24465706 More...
RGD:11039412 RGD:1601140 RGD:8549482
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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AGTR1
angiotensin II receptor type 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897
RGD:8549482
NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
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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:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685
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AGXT2
alanine--glyoxylate aminotransferase 2
ISO
DNA:SNP:CDS:V140I (rs37369) (human)
RGD
PMID:27423328
RGD:329961308
NCBI chr 5:75,322,351...75,373,261
Ensembl chr 5:80,601,554...80,652,575
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AKAP6
A-kinase anchoring protein 6
ISO
RGD
PMID:24812305
RGD:11251930
NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
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ALB
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
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ALOX12
arachidonate 12-lipoxygenase, 12S type
ISO
RGD
PMID:15623566
RGD:5509787
NCBI chr17:7,026,839...7,041,598
Ensembl chr17:7,014,591...7,029,602
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ALOX15
arachidonate 15-lipoxygenase
treatment
ISO
associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176 PMID:19546247 PMID:34958945
RGD:1642301 RGD:401900155 RGD:5509627
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
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AMPD1
adenosine monophosphate deaminase 1
susceptibility
ISO
DNA:SNP:exon 2:CDNA:polymorphism::
RGD
PMID:10086964 PMID:15135700
RGD:329349356 RGD:329349359
NCBI chr 1:87,858,602...87,881,348
Ensembl chr 1:122,912,417...122,934,476
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
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ANKRD23
ankyrin repeat domain 23
ISO
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chr2A:102,469,784...102,476,991
Ensembl chr2A:97,756,775...97,763,360
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APCS
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16129801
NCBI chr 1:134,937,472...134,938,512
Ensembl chr 1:138,734,046...138,735,093
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APLN
apelin
ISO
associated with Hypertension, Pulmonary protein:decreased expression:plasma protein:increased expression:ventricle myocardium
RGD
PMID:16263185 PMID:17055480 PMID:17119870
RGD:1626171 RGD:1626175 RGD:1626186
NCBI chr X:118,775,509...118,785,224
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APOA1
apolipoprotein A1
ISO
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
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APOC1
apolipoprotein C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
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APOE
apolipoprotein E
ISO
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
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ARG2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
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ARRB1
arrestin beta 1
treatment
ISO
RGD
PMID:21232674
RGD:5509888
NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
Ensembl chr16:29,265,516...29,290,807 Ensembl chr16:29,265,516...29,290,807
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chr12:107,857,009...107,924,938
Ensembl chr12:111,246,508...111,311,923
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AVP
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18179782
NCBI chr20:3,169,094...3,172,900
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AVPR2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chr X:143,458,693...143,461,945
Ensembl chr X:153,346,466...153,348,840
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BAMBI
BMP and activin membrane bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr10:28,833,690...28,839,164
Ensembl chr10:29,187,857...29,193,324
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 RGD:13792577
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BECN1
beclin 1
treatment
ISO
RGD
PMID:18619688
RGD:11560532
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
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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 chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
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BNIP3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:23508759
RGD:11561982
NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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CALR
calreticulin
ISO
MouseDO
NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
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CASP1
caspase 1
ISO
mRNA, protein:increased expression:heart left ventricle
RGD
PMID:17303764
RGD:2315913
NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149 Ensembl chr11:103,448,497...103,458,149
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CASP3
caspase 3
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
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CASQ2
calsequestrin 2
ISO
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10618301 PMID:16105639
RGD:1581151
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CBL
Cbl proto-oncogene
disease_progression
ISO
protein:increased expression:left ventricle myocardium, muscle cell (human) DNA:mutations: :
RGD
PMID:24583314 PMID:33779075
RGD:11251947 RGD:155630627
NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
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CCL2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12950323 PMID:29959987
RGD:1581156
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CCN1
cellular communication network factor 1
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30045012
RGD:329845515
NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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CCNA2
cyclin A2
ISO
RGD
PMID:16820573
RGD:2293348
NCBI chr 4:114,016,917...114,024,816
Ensembl chr 4:125,153,810...125,161,302
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CCNT1
cyclin T1
ISO
RGD
PMID:15297879
RGD:1556509
NCBI chr12:40,028,334...40,057,393
Ensembl chr12:40,906,907...40,935,392
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858
RGD:1581177
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CD40LG
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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CDK9
cyclin dependent kinase 9
ISO
protein:increased activity:heart: protein:increased activity:ventricle:
RGD
PMID:15297879
RGD:1556509
NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935
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CFD
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
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CFLAR
CASP8 and FADD like apoptosis regulator
ISO
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045
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CHDH
choline dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:53,751,179...53,784,437
Ensembl chr 3:54,976,780...54,982,991
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CHEK2
checkpoint kinase 2
ISO
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chr22:9,757,038...9,811,171
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
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CHRM4
cholinergic receptor muscarinic 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr11:46,342,384...46,350,366
Ensembl chr11:46,894,615...46,896,054
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
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CIDEA
cell death inducing DFFA like effector a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr18:2,051,880...2,075,909
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CORIN
corin, serine peptidase
ISO
mRNA:increased expression:heart (rat) mRNA:decreased expression:left atrium, right atrium (rat)
RGD
PMID:15155264 PMID:15191894
RGD:1581217 RGD:1581218
NCBI chr 4:74,311,036...74,555,742
Ensembl chr 4:85,043,182...85,286,573
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CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:34373768
RGD:401960872
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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CRP
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr 1:135,062,102...135,064,402
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CRYAB
crystallin alpha B
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28919577 PMID:32420686 PMID:34237397 PMID:34983005 More...
NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
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CRYM
crystallin mu
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:17,127,351...17,147,210
Ensembl chr16:21,290,477...21,310,446
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CS
citrate synthase
severity treatment
ISO
CTD Direct Evidence: marker/mechanism associated with pulmonary hypertension
CTD RGD
PMID:7484170 PMID:8922916 PMID:23099843 PMID:28492791
RGD:243048466 RGD:243048480 RGD:243049253
NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854
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CSF2
colony stimulating factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CSRP3
cysteine and glycine rich protein 3
ISO
MouseDO
NCBI chr11:19,208,025...19,228,000
Ensembl chr11:19,121,234...19,140,820
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CST3
cystatin C
susceptibility
ISO
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
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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 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
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CXCR4
C-X-C motif chemokine receptor 4
ISO
MouseDO
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
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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 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
treatment
ISO
RGD
PMID:34958945
RGD:401900155
NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
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DDR1
discoidin domain receptor tyrosine kinase 1
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455
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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 chr14:82,188,126...82,190,220
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DMD
dystrophin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733
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DNMT1
DNA methyltransferase 1
ISO
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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DSTN
destrin, actin depolymerizing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr20:17,528,574...17,566,925
Ensembl chr20:17,506,262...17,545,331
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DYNLL1
dynein light chain LC8-type 1
ISO
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chr12:118,078,401...118,080,822
Ensembl chr12:121,452,118...121,454,550
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
treatment
ISO
associated with myocardial infarction
RGD
PMID:26067684
RGD:11097969
NCBI chr21:23,729,204...23,878,820
Ensembl chr21:37,137,253...37,231,987
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ECE1
endothelin converting enzyme 1
ISO
associated with myocardial ischemia mRNA,protein:increased expression:kidney:
RGD
PMID:9595392 PMID:11145756 PMID:19596829
RGD:1580911 RGD:7243876 RGD:7244244
NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
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EDN1
endothelin 1
treatment severity
ISO
mRNA,protein:increased expression:heart: protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7967349 PMID:7969316 PMID:8149524 PMID:9861300 PMID:10199843 PMID:10973842 PMID:11136700 PMID:11707688 PMID:16360360 PMID:16762801 More...
RGD:4144845 RGD:7244167 RGD:8661798
NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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EDNRA
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
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EDNRB
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
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ELOVL6
ELOVL fatty acid elongase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:102,545,815...102,695,536
Ensembl chr 4:113,110,466...113,260,444
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ENDOG
endonuclease G
ISO
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chr 9:99,941,856...99,945,957
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ENG
endoglin
treatment
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938
RGD:7257540
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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EP300
E1A binding protein p300
ISO
RGD
PMID:12724418
RGD:2312280
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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EPHX2
epoxide hydrolase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
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EPO
erythropoietin
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:10421602
RGD:1580989
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
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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 chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ESRRA
estrogen related receptor alpha
ISO
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chr11:59,662,565...59,673,789
Ensembl chr11:63,009,295...63,018,744
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EYA4
EYA transcriptional coactivator and phosphatase 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
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FADS1
fatty acid desaturase 1
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr11:57,101,553...57,116,243
Ensembl chr11:60,462,420...60,476,798
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FADS2
fatty acid desaturase 2
treatment
ISO
associated with Left Ventricular Hypertrophy, Cardiac Fibrosis
RGD
PMID:22796714 PMID:24284026
RGD:401901245 RGD:401901592
NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
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FAS
Fas cell surface death receptor
treatment
ISO
mRNA:splice variant:heart left ventricle (human)
RGD
PMID:9367848 PMID:29746994
RGD:13792577 RGD:8686420
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
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FBLN5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
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FIP1L1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 4:70,495,627...70,579,059
Ensembl chr 4:77,050,858...77,133,003
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FKBP1B
FKBP prolyl isomerase 1B
ISO
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chr2A:24,047,287...24,065,765
Ensembl chr2A:24,145,893...24,159,082
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
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FOSL1
FOS like 1, AP-1 transcription factor subunit
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
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FOXC1
forkhead box C1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 6:1,429,051...1,433,180
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FOXC2
forkhead box C2
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr16:67,237,476...67,239,545
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FOXO1
forkhead box O1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr13:21,763,729...21,874,279
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FOXP1
forkhead box P1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
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FOXP4
forkhead box P4
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 6:41,133,751...41,189,709
Ensembl chr 6:42,459,420...42,496,205
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FTH1
ferritin heavy chain 1
ISO
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chr11:57,329,163...57,332,248
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
treatment
ISO
mRNA, protein:decreased expression:heart protein:increased expression:heart mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:heart
RGD
PMID:29997116 PMID:33748197 PMID:34728610 PMID:36120562
RGD:329812009 RGD:329812038 RGD:329901853 RGD:329901854
NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
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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 chr19:32,080,180...32,089,141
Ensembl chr19:40,824,448...40,827,039
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GATM
glycine amidinotransferase
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium
CTD RGD
PMID:16820567 PMID:36071497
RGD:329955376
NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209
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GCG
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:30878404
RGD:329961332
NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393
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GDF15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470
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GHRL
ghrelin and obestatin prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
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GNB1
G protein subunit beta 1
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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GP6
glycoprotein VI platelet
ISO
protein:increased expression, decreased expression:plasma, platelet (human)
RGD
PMID:27601054
RGD:401794406
NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643
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GPX4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr19:20,904...23,828
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GRK1
G protein-coupled receptor kinase 1
ISO
RGD
PMID:12456492
RGD:1600002
NCBI chr13:94,816,045...94,838,509
Ensembl chr13:113,867,002...113,885,610
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GRK2
G protein-coupled receptor kinase 2
treatment
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human) associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9931137 PMID:11331748 PMID:26248277 PMID:26670611 PMID:29247373
RGD:11535540 RGD:13506830 RGD:1625790 RGD:737776
NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
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GRK3
G protein-coupled receptor kinase 3
severity
ISO
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chr22:6,579,664...6,789,846
Ensembl chr22:24,353,533...24,509,560
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GRK5
G protein-coupled receptor kinase 5
severity
ISO
mRNA:decreased expression:heart left ventricle (human) mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:22685168 PMID:26248277
RGD:11535540 RGD:13506835
NCBI chr10:115,776,236...116,026,221
Ensembl chr10:119,200,688...119,450,809
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GRP
gastrin releasing peptide
exacerbates
ISO
protein:increased expression:plasma (human) protein:decreased expression:plasma (human)
RGD
PMID:1396815 PMID:30145817
RGD:329961562 RGD:401700398
NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188
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GSK3B
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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HAMP
hepcidin antimicrobial peptide
ISO
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
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HAND2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 4:165,755,000...165,758,735
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:heart right ventricle (rat)
CTD RGD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HMGB1
high mobility group box 1
treatment
ISO
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 RGD:10402081
NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
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HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679
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HMOX1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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HRH2
histamine receptor H2
susceptibility
ISO
RGD
PMID:24655024
RGD:9685523
NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566
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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 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866
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HSPB1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
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HTR2B
5-hydroxytryptamine receptor 2B
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle cardiac muscle (rat)
CTD RGD
PMID:17936780 PMID:19023134
RGD:9698457
NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
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IFIT3
interferon induced protein with tetratricopeptide repeats 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:12835956
RGD:1598415
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IL10
interleukin 10
disease_progression treatment
ISO
mRNA, protein:decreased expression:cardiac ventricle (rat)
RGD
PMID:16461369 PMID:23778495 PMID:28939262
RGD:14975271 RGD:1598465 RGD:7365020
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
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IL17A
interleukin 17A
ISO
protein:increased expression:heart
RGD
PMID:19527710 PMID:19909738
RGD:2325816 RGD:4831836
NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) CTD Direct Evidence: marker/mechanism associated with Hypertension;mRNA:increased expression:heart
RGD CTD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:18999900 PMID:28939262
RGD:14975271 RGD:2307285 RGD:5128682
NCBI chr 7:23,415,922...23,420,767
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IL6R
interleukin 6 receptor
ISO
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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INHBA
inhibin subunit beta A
severity
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 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
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INS
insulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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IRX1
iroquois homeobox 1
treatment
ISO
RGD
PMID:31640472
RGD:329950496
NCBI chr 5:3,922,252...3,927,836
Ensembl chr 5:3,610,225...3,615,279
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ITGB1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
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KAT8
lysine acetyltransferase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27768893
NCBI chr16:23,837,540...23,851,376
Ensembl chr16:31,486,098...31,500,185
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KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
mRNA:increased expression:endocardium of right ventricle: associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176 PMID:17384445
RGD:12910696 RGD:1642301
NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441
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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 1:190,576,180...190,807,367
Ensembl chr 1:195,430,994...195,662,840
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KDM2A
lysine demethylase 2A
ISO
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chr11:62,470,549...62,616,135
Ensembl chr11:65,793,464...65,930,498
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LEP
leptin
ISO
RGD
PMID:18006469
RGD:5128823
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
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LEPR
leptin receptor
ISO
protein:increased phosphorylation:heart DNA:mutations:cds: : (rat)
RGD
PMID:18006469 PMID:32710530
RGD:401960103 RGD:5128823
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LGALS3
galectin 3
ISO
RGD
PMID:15520318
RGD:9685214
NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
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LIF
LIF interleukin 6 family cytokine
ISO
RGD
PMID:20051627
RGD:2326058
NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608
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LOC100974886
uncharacterized LOC100974886
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555
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LOC100978529
myosin-7
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:18088389
RGD:12792974
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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LOC100982531
cytochrome b-245 heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183
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LOC100986730
guanine nucleotide-binding protein G(q) subunit alpha
disease_progression no_association
ISO
DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) DNA:polymorphisms:promoter:multiple
RGD MouseDO
PMID:17720980
RGD:126781754
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
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LOC100990437
NADPH--cytochrome P450 reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530
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LOC100995017
XIAP-associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:6,785,040...6,806,177
Ensembl chr17:6,774,951...6,794,947
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LRRC10
leucine rich repeat containing 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:67,135,114...67,137,929
Ensembl chr12:69,907,049...69,907,882
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LTBP2
latent transforming growth factor beta binding protein 2
ISO
associated with dyspnea;protein:increased expression:plasma (human) mRNA:increased expression:heart (human)
RGD
PMID:22587491 PMID:32478206
RGD:156451376 RGD:213230162
NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
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MAP2K7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
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MAP3K7
mitogen-activated protein kinase kinase kinase 7
treatment
ISO
RGD
PMID:10802712 PMID:25278099 PMID:26706286
RGD:11534146 RGD:155791673 RGD:155804285
NCBI chr 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
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MAPK10
mitogen-activated protein kinase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:78,326,129...78,756,794
Ensembl chr 4:89,059,579...89,392,196
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MAS1
MAS1 proto-oncogene, G protein-coupled receptor
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chr 6:157,774,098...157,799,983
Ensembl chr 6:162,801,416...162,802,393
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MDH2
malate dehydrogenase 2
ISO
RGD
PMID:16786185
RGD:1582470
NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526
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MED1
mediator complex subunit 1
ISO
MouseDO
NCBI chr17:17,836,350...17,883,610
Ensembl chr17:18,050,474...18,095,118
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MME
membrane metalloendopeptidase
ISO
RGD
PMID:12383878
RGD:13801043
NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119
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MMP1
matrix metallopeptidase 1
ISO
RGD
PMID:12892382 PMID:21866669
RGD:1582539 RGD:7207282
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP13
matrix metallopeptidase 13
disease_progression
ISO
associated with Hypertension protein:increased expression:left ventricle (rat)
RGD
PMID:10773234 PMID:10773235
RGD:1582587 RGD:2290467
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MMP14
matrix metallopeptidase 14
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
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MMP2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:heart left ventricle, plasma mRNA:increased expression:heart left ventricle
RGD
PMID:10773234 PMID:16169329 PMID:20606426
RGD:1582574 RGD:2290467 RGD:8694112
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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MMP3
matrix metallopeptidase 3
ISO
protein:increased expression:heart left ventricle, plasma
RGD
PMID:20606426
RGD:8694112
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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MMP8
matrix metallopeptidase 8
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:heart left ventricle, plasma associated with Hypertension, Pulmonary; protein:increased expression:heart
RGD
PMID:11342481 PMID:16952784 PMID:17913382 PMID:20606426
RGD:1582647 RGD:5130174 RGD:7207137 RGD:8694112
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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MSTN
myostatin
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:myocardium
CTD RGD
PMID:16968467
RGD:2303554
NCBI chr2B:77,364,927...77,452,426
Ensembl chr2B:195,283,903...195,290,922
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MTHFD2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr2A:74,270,161...74,285,790
Ensembl chr2A:75,777,028...75,792,699
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MTOR
mechanistic target of rapamycin kinase
ISO
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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MTPN
myotrophin
ISO
MouseDO
NCBI chr 7:127,896,148...127,947,122
Ensembl chr 7:140,392,620...140,443,591
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MX1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019
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MYH6
myosin heavy chain 6
treatment
ISO
associated with Myocardial Infarction ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
RGD ClinVar
PMID:18088389 PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
RGD:12792974
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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MYL2
myosin light chain 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:12404107 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:108,479,941...108,489,739
Ensembl chr12:111,873,270...111,883,047
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MYOC
myocilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
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MYOCD
myocardin
ISO
RGD
PMID:19850880
RGD:11251948
NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
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MYOD1
myogenic differentiation 1
treatment
ISO
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690
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MYOT
myotilin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 PMID:31404076 More...
NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960
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MYPN
myopalladin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967
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NCAM1
neural cell adhesion molecule 1
ISO
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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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 chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
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NISCH
nischarin
ISO
RGD
PMID:12021582
RGD:1581128
NCBI chr 3:52,397,576...52,435,127
Ensembl chr 3:53,626,317...53,662,567
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NME2
NME/NM23 nucleoside diphosphate kinase 2
ISO
protein:increased expression:heart, left ventricle, sarcolemma (human)
RGD
PMID:11121795
RGD:5132888
NCBI chr17:45,255,982...45,261,541
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NOS1
nitric oxide synthase 1
ISO
RGD
PMID:15466641 PMID:23832698
RGD:1581144 RGD:7257598
NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
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NOS3
nitric oxide synthase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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NOX1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192
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NOX4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr11:84,330,362...84,496,755
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NPPA
natriuretic peptide A
severity treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma mRNA,protein:increased expression:heart,plasma
CTD RGD
PMID:1647690 PMID:2143809 PMID:8112904 PMID:11136700 PMID:11421854 PMID:16101196 PMID:23566312 PMID:23931972 More...
RGD:1580139 RGD:1580140 RGD:7247714 RGD:7297049
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NPPB
natriuretic peptide B
severity
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic mRNA,protein:increased expression:heart,plasma associated with Diabetes Mellitus;protein:increased expression:plasma
RGD CTD
PMID:1831369 PMID:2143809 PMID:11136700 PMID:11279304 PMID:11421854 PMID:12628948 PMID:15732037 PMID:15860969 PMID:16101196 PMID:16333235 PMID:16360360 PMID:16762801 PMID:16777915 PMID:17257273 PMID:19650993 PMID:24535859 PMID:29959987 More...
RGD:1580139 RGD:1580140 RGD:1642196 RGD:7247316
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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NPR1
natriuretic peptide receptor 1
ISO
protein:decreased expression:kidney associated with Hypertension CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9405681 PMID:17264312 PMID:20881240
RGD:7247730 RGD:737701
NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327
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NPTXR
neuronal pentraxin receptor
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr22:19,731,443...19,757,125
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NPY
neuropeptide Y
ISO
RGD
PMID:17804485
RGD:7175103
NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
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NR3C1
nuclear receptor subfamily 3 group C member 1
treatment
ISO
RGD
PMID:21737535
RGD:7174712
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
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NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15722665 PMID:21321305
NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
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NRG1
neuregulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
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NRIP1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr21:1,565,149...1,801,358
Ensembl chr21:15,065,197...15,068,673
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OGDHL
oxoglutarate dehydrogenase L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:44,476,006...44,504,578
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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:60,798,219...60,840,948
Ensembl chr X:70,852,687...70,894,921
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OLR1
oxidized low density lipoprotein receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr12:10,196,712...10,210,432
Ensembl chr12:10,445,202...10,461,071
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OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
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OPRK1
opioid receptor kappa 1
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 8:49,650,844...49,677,494
Ensembl chr 8:47,029,313...47,056,577
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P2RX4
purinergic receptor P2X 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum
RGD
PMID:16497176
RGD:1642301
NCBI chr12:118,807,961...118,832,267
Ensembl chr12:122,178,672...122,202,959
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PAMR1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr11:35,404,636...35,498,705
Ensembl chr11:35,279,225...35,373,862
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PARP1
poly(ADP-ribose) polymerase 1
treatment
ISO
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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PCK1
phosphoenolpyruvate carboxykinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chr 6:147,564,783...147,623,402
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PDE9A
phosphodiesterase 9A
severity treatment
ISO
mRNA:increased expression:heart, peripheral blood mononuclear cell
RGD
PMID:28649129 PMID:33787083
RGD:240191787 RGD:241060360
NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
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PDGFRA
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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PDPK1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chr16:1,394,447...1,463,735
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PDYN
prodynorphin
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
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PEBP1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr12:115,716,953...115,726,412
Ensembl chr12:119,093,952...119,105,054
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PGF
placental growth factor
ISO
RGD
PMID:19327525
RGD:6483590
NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964
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PHF6
PHD finger protein 6
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:123,521,956...123,578,256
Ensembl chr X:133,822,260...133,873,990
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
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PLA2G7
phospholipase A2 group VII
ISO
RGD
PMID:16952920
RGD:6482778
NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
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PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
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PLCD1
phospholipase C delta 1
ISO
RGD
PMID:11181012
RGD:2300431
NCBI chr 3:37,906,359...37,928,564
Ensembl chr 3:38,189,496...38,206,886
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PLD2
phospholipase D2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chr17:4,853,919...4,870,254
Ensembl chr17:4,843,217...4,858,425
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PLN
phospholamban
treatment
ISO
associated with Myocardial Infarction associated with Hypertension
RGD
PMID:22947202 PMID:22970977
RGD:7327181 RGD:7327182
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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PNPLA2
patatin like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35218467
NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
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POSTN
periostin
treatment
ISO
mRNA:increased expression:heart
RGD
PMID:15381649 PMID:16414453
RGD:10040951 RGD:10040999
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
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PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PPARGC1A
PPARG coactivator 1 alpha
onset
ISO
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart (mouse)
RGD MouseDO CTD
PMID:19808358 PMID:22503866 PMID:23297372 PMID:23342071
RGD:7241838 RGD:7241843
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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PPM1K
protein phosphatase, Mg2+/Mn2+ dependent 1K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:80,548,652...80,575,555
Ensembl chr 4:91,272,142...91,298,274
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PPP1CA
protein phosphatase 1 catalytic subunit alpha
ISO
RGD
PMID:12024026
RGD:737728
NCBI chr11:62,756,659...62,760,369
Ensembl chr11:66,068,007...66,071,611
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PPP1CC
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr12:108,288,158...108,311,128
Ensembl chr12:111,681,611...111,705,658
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PPP1R1A
protein phosphatase 1 regulatory inhibitor subunit 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chr12:34,158,956...34,167,350
Ensembl chr12:34,882,975...34,898,218
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PPP2CA
protein phosphatase 2 catalytic subunit alpha
ISO
mRNA:increased expression:vastus lateralis muscle (human)
RGD
PMID:14567976
RGD:8693707
NCBI chr 5:129,599,606...129,629,312
Ensembl chr 5:135,751,958...135,765,786
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
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PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
ISO
ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:21409595 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532
NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
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PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382
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PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:99,021,209...99,140,652
Ensembl chr 7:111,748,463...111,866,044
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PRKCA
protein kinase C alpha
ISO
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
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PRKCB
protein kinase C beta
ISO
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203
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PRL
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
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PTGIS
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:27802898
RGD:401960097
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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PTH
parathyroid hormone
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
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PTPRF
protein tyrosine phosphatase receptor type F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
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RAC1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12642504 PMID:16155095
RGD:1581295
NCBI chr 7:7,039,379...7,068,866
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RAMP2
receptor activity modifying protein 2
ISO
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chr17:14,554,888...14,557,175
Ensembl chr17:14,779,666...14,781,481
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RAPGEF3
Rap guanine nucleotide exchange factor 3
ISO
mRNA, protein:increased expression:left ventricle myocardium (human)
RGD
PMID:18323524
RGD:9835356
NCBI chr12:40,974,756...40,999,471
Ensembl chr12:41,848,785...41,873,252
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RBFOX2
RNA binding fox-1 homolog 2
ISO
protein:decreased expression:heart (mouse)
RGD
PMID:25753418
RGD:329845877
NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257
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RBM10
RNA binding motif protein 10
ISO
protein:decreased expression:heart
RGD
PMID:30257214
RGD:151667449
NCBI chr X:39,582,480...39,623,749
Ensembl chr X:47,440,815...47,481,204
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RBM20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532 PMID:34174465
NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909
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RBP4
retinol binding protein 4
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22785609 PMID:26670611
RGD:329845590
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
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REN
renin
exacerbates
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:blood plasma (human)
CTD RGD
PMID:1647690 PMID:7034517 PMID:17526990 PMID:20811386
RGD:126908011
NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
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RETN
resistin
ISO
CTD Direct Evidence: marker/mechanism associated with Coronary Disease
CTD RGD
PMID:22240747 PMID:26670611
RGD:7207075
NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
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RNLS
renalase, FAD dependent amine oxidase
ISO
RGD
PMID:21297953
RGD:7327162
NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
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ROCK2
Rho associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr2A:11,167,353...11,331,339
Ensembl chr2A:11,318,370...11,478,986
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RRAD
RRAD, Ras related glycolysis inhibitor and calcium channel regulator
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:18056528
RGD:2311701
NCBI chr16:47,236,886...47,240,799
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RSAD2
radical S-adenosyl methionine domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr2A:6,873,821...6,906,087
Ensembl chr2A:7,021,937...7,042,961
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RYR1
ryanodine receptor 1
ISO
RGD
PMID:29593014
RGD:329813079
NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28404607 PMID:28492532
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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SELP
selectin P
ISO
RGD
PMID:19193626
RGD:2312309
NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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SERPINE1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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SIRT1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
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SIRT3
sirtuin 3
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732
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SLC22A5
solute carrier family 22 member 5
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr 5:127,791,984...127,817,870
Ensembl chr 5:133,954,678...133,979,066
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SLC2A4
solute carrier family 2 member 4
severity
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chr17:7,312,605...7,319,430
Ensembl chr17:7,299,966...7,306,344
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SLC6A4
solute carrier family 6 member 4
ISO
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
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SLC8A1
solute carrier family 8 member A1
ISO
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chr2A:40,169,339...40,586,546
Ensembl chr2A:40,939,900...41,363,038
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SLC9A1
solute carrier family 9 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18776042 PMID:19027022
RGD:6771337
NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
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SMC1A
structural maintenance of chromosomes 1A
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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SNCA
synuclein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr21:18,029,831...18,037,526
G
SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SOD3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781
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SOX2
SRY-box transcription factor 2
ISO
RGD
PMID:34321385
RGD:155882552
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
G
SOX4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 6:21,422,846...21,427,779
G
SPHKAP
SPHK1 interactor, AKAP domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr2B:115,218,846...115,420,826
Ensembl chr2B:234,028,622...234,229,874
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SRA1
steroid receptor RNA activator 1
severity
ISO
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr 5:135,914,506...135,922,704
Ensembl chr 5:142,032,119...142,039,188
G
SRF
serum response factor
ISO
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768
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SRI
sorcin
ISO
protein:decreased expression:cardiac muscle cell associated with Hypertension
RGD
PMID:12754254 PMID:20945956
RGD:7327198 RGD:7327200
NCBI chr 7:80,199,719...80,214,733
Ensembl chr 7:93,850,496...93,864,029
G
SRSF2
serine and arginine rich splicing factor 2
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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TBX20
T-box transcription factor 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 7:35,855,969...35,878,533
G
TH
tyrosine hydroxylase
ISO
protein:increased expression:paraventricular thalamic nucleus (rat)
RGD
PMID:7715703 PMID:21287352
RGD:5128674 RGD:737737
NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
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TIMP1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419
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TIMP2
TIMP metallopeptidase inhibitor 2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
G
TLR2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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TMEM71
transmembrane protein 71
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:129,363,661...129,429,101
Ensembl chr 8:132,339,621...132,388,523
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TNF
tumor necrosis factor
treatment severity
ISO
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction;
RGD MouseDO CTD
PMID:11100001 PMID:11668085 PMID:15135663 PMID:15210453 PMID:15231041 PMID:17337591 PMID:18034274 PMID:28939262 PMID:29959987 More...
RGD:14975271 RGD:1580213 RGD:7401241 RGD:7401242
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF11B
TNF receptor superfamily member 11b
ISO
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chr 1:176,957,298...176,976,033
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TOMM70
translocase of outer mitochondrial membrane 70
ISO
mRNA:decreased expression:heart protein:increased serine phosphorylation:heart, mitochondrion
RGD
PMID:24395194 PMID:25022898
RGD:13464131 RGD:13464132
NCBI chr 3:97,459,180...97,497,175
Ensembl chr 3:104,139,473...104,178,074
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:33495812
RGD:127229929
NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
G
TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33594499
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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TTN
titin
ISO
ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:15802564 PMID:17344846 PMID:23396983 PMID:23486992 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24231549 PMID:24271327 PMID:24503780 PMID:24569025 PMID:24578547 PMID:25589632 PMID:25741868 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27194543 PMID:27843123 PMID:28256728 PMID:28492532 PMID:28771489 PMID:29361395 PMID:37091313 More...
NCBI chr2B:65,783,512...66,064,618
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TTR
transthyretin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 PMID:6736244 PMID:7923855 PMID:8102146 PMID:9090525 PMID:14640030 PMID:15185492 PMID:19428025 PMID:22332999 PMID:24955979 PMID:25741868 PMID:28492532 More...
NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
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TUBB
tubulin beta class I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr 6:30,465,367...30,470,451
G
TXNRD1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:101,862,703...101,925,104
Ensembl chr12:105,187,128...105,321,112
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UCN
urocortin
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chr2A:27,309,458...27,311,268
Ensembl chr2A:27,397,295...27,397,669
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UCN2
urocortin 2
ISO
CTD Direct Evidence: therapeutic mRNA, protein:increased expression:myocardium (human)
CTD RGD
PMID:12076554 PMID:16330704
RGD:5508210
NCBI chr 3:48,484,628...48,485,179
G
UCP1
uncoupling protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 4:132,921,033...132,930,714
Ensembl chr 4:144,230,858...144,240,178
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UCP2
uncoupling protein 2
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20193183 PMID:20809120
RGD:7204424 RGD:7204426
NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
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UCP3
uncoupling protein 3
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274
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UTS2
urotensin 2
severity
ISO
protein:increased expression:plasma
RGD
PMID:12791592 PMID:16364499
RGD:1580809 RGD:2306804
NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688
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VCL
vinculin
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567
NCBI chr10:70,521,259...70,641,917
Ensembl chr10:73,191,375...73,311,296
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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VWF
von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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XDH
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19933411
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
G
YY1
YY1 transcription factor
ISO
RGD
PMID:12754214
RGD:1580831
NCBI chr14:80,859,491...80,903,651
G
ZFPM2
zinc finger protein, FOG family member 2
exacerbates
ISO
RGD
PMID:18658259
RGD:155882484
NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
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PPA2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:34400813 More...
NCBI chr 4:97,836,518...97,941,041
Ensembl chr 4:108,449,806...108,553,709
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
RGD
PMID:26010685
RGD:12791997
NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
G
AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20363892
RGD:5509101
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532 PMID:28600387 PMID:36413997
NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
G
ATG7
autophagy related 7
ameliorates
ISO
RGD
PMID:26071643
RGD:407532703
NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
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CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20817017 PMID:21383000 PMID:22840528 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 PMID:37198425 PMID:38426305 More...
NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482
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CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
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CEP85L
centrosomal protein 85 like
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:22820313 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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DPP6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 7:145,356,340...146,492,773
Ensembl chr 7:157,635,828...158,220,345
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DSC2
desmocollin 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 PMID:25741868 PMID:27153395 PMID:28492532 More...
NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
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DSG2
desmoglein 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20400443 PMID:23071725 PMID:23861362 PMID:24070718 PMID:25741868 PMID:28492532 PMID:28600387 PMID:37418234 More...
NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20716751 PMID:21606390 PMID:22240500 PMID:24503780 PMID:25227139 PMID:25525159 PMID:25741868 PMID:28492532 PMID:33313835 More...
NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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DYNLL1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr12:118,078,401...118,080,822
Ensembl chr12:121,452,118...121,454,550
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EP300
E1A binding protein p300
ISO
associated with Diabetes Mellitus; mRNA:increased expression:blood (human)
RGD
PMID:19577077
RGD:2312286
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:17728042
RGD:5688386
NCBI chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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IFNG
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL18
interleukin 18
ISO
RGD
PMID:18679114
RGD:4889454
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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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 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532
NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128
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KCNN2
potassium calcium-activated channel subfamily N member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32909839 PMID:33887967
NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079
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MYBPC3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:14563344 PMID:15519027 PMID:16352453 PMID:20624503 PMID:22361390 PMID:23140321 PMID:23299917 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24510615 PMID:25163546 PMID:25741868 PMID:28492532 PMID:33035702 More...
NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
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MYH6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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MYOM1
myomesin 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
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PLN
phospholamban
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:22820313 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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RBM20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 PMID:27896284 PMID:28492532 PMID:28798025 More...
NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18452873 PMID:19412328 PMID:20403459 PMID:20875080 PMID:22378279 PMID:22581653 PMID:23008441 PMID:23098067 PMID:24033266 PMID:24653702 PMID:25741868 PMID:26209461 PMID:26467025 PMID:26749013 PMID:27287068 PMID:28265756 PMID:28492532 PMID:28781330 PMID:29032884 More...
NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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SLMAP
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 3:57,688,669...57,864,355
Ensembl chr 3:59,108,247...59,280,713
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SOD1
superoxide dismutase 1
ISO
RGD
PMID:15843790
RGD:1581221
NCBI chr21:18,029,831...18,037,526
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TRPM4
transient receptor potential cation channel subfamily M member 4
treatment
ISO
ClinVar Annotator: match by term: Cardiac arrest
RGD ClinVar
PMID:26010685 PMID:28492532
RGD:12791997
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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VCL
vinculin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:70,521,259...70,641,917
Ensembl chr10:73,191,375...73,311,296
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AQP1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
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IFT122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
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UBIAD1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381
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HAVCR1
hepatitis A virus cellular receptor 1
susceptibility
ISO
protein:increased expression:kidney tubule:
RGD
PMID:22367506 PMID:23220287
RGD:7245477 RGD:7245950
NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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MYOCD
myocardin
ameliorates
ISO
mRNA,protein:increased expression:left ventricle
RGD
PMID:30971740
RGD:401793740
NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21450080
RGD:6767563
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20669672
RGD:4143386
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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IL27
interleukin 27
disease_progression
ISO
associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human)
RGD
PMID:27403033
RGD:126790503
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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ACE
angiotensin I converting enzyme
severity treatment susceptibility
ISO
DNS:insertion/deletion:intron: (rs1799752) DNA:insertion/deletion:intron 16:
RGD
PMID:14757777 PMID:19021695 PMID:19752885
RGD:40400704 RGD:40400723 RGD:40400906
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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ADRA1D
adrenoceptor alpha 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:4,242,788...4,271,295
Ensembl chr20:4,040,888...4,068,018
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AKIP1
A-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:9,040,057...9,049,095
Ensembl chr11:8,781,702...8,790,267
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ALOX15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
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ANKRD23
ankyrin repeat domain 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr2A:102,469,784...102,476,991
Ensembl chr2A:97,756,775...97,763,360
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APLN
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:118,775,509...118,785,224
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CDC25B
cell division cycle 25B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
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COL4A1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
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COL6A1
collagen type VI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr21:32,322,185...32,346,850
Ensembl chr21:45,584,096...45,607,240
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COL8A1
collagen type VIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:96,732,445...96,892,726
Ensembl chr 3:103,521,159...103,573,617
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CREG1
cellular repressor of E1A stimulated genes 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:142,974,260...142,987,071
Ensembl chr 1:146,758,325...146,770,978
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CXCL3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:50,152,730...50,154,974
Ensembl chr 4:55,925,562...55,986,555
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CYRIB
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:126,478,020...126,653,936
Ensembl chr 8:129,209,655...129,272,844
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ELK3
ETS transcription factor ELK3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr12:93,781,034...93,863,042
Ensembl chr12:97,223,198...97,276,120
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EPN3
epsin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr17:44,626,114...44,636,646
Ensembl chr17:49,504,119...49,509,729
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FHL1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:125,270,340...125,334,961
Ensembl chr X:135,559,321...135,602,375
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FIBIN
fin bud initiation factor homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:26,947,970...26,950,278
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FXYD3
FXYD domain containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:32,036,936...32,070,374
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HAMP
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
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KANK2
KN motif and ankyrin repeat domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
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KLF9
KLF transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:54,387,404...54,417,095
Ensembl chr 9:69,142,283...69,170,664
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LEPR
leptin receptor
treatment
ISO
RGD
PMID:33568522
RGD:401965412
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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LOC100978529
myosin-7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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MS4A6A
membrane spanning 4-domains A6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:55,402,207...55,413,959
Ensembl chr11:58,847,867...58,860,947
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MYH6
myosin heavy chain 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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NPPA
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NUPR1
nuclear protein 1, transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
Ensembl chr16:29,015,155...29,016,987
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PIK3IP1
phosphoinositide-3-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr22:12,305,518...12,316,434
Ensembl chr22:30,141,326...30,152,397
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PLXND1
plexin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 3:126,613,065...126,664,643
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PTP4A2
protein tyrosine phosphatase 4A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:31,193,735...31,222,731
Ensembl chr 1:32,209,863...32,231,847
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PTPN3
protein tyrosine phosphatase non-receptor type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:80,528,896...80,651,629
Ensembl chr 9:108,699,761...108,787,464
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SFRP1
secreted frizzled related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:40,507,027...40,555,053
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SIPA1L1
signal induced proliferation associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:51,909,444...52,328,719
Ensembl chr14:71,038,600...71,192,916
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TRDN
triadin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
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WDR45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960
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ZNF532
zinc finger protein 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr18:52,257,241...52,380,431
Ensembl chr18:55,640,924...55,706,365
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CPS1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
ClinVar OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:36340787 More...
NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
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ADORA1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
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ADRB2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to
ClinVar
PMID:7706471 PMID:9399946 PMID:9399966 PMID:9522789 PMID:11739457 PMID:14557466 PMID:15500895 PMID:15867853 PMID:16596417 PMID:28492532 More...
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
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ABI2
abl interactor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,561,708...90,663,072
Ensembl chr2B:208,702,092...208,797,499
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ACADL
acyl-CoA dehydrogenase long chain
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,445,421...97,483,514
Ensembl chr2B:215,847,775...215,885,524
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ACVRL1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
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ADAM23
ADAM metallopeptidase domain 23
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,677,971...93,855,647
Ensembl chr2B:211,806,871...211,980,399
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ADORA2A
adenosine A2a receptor
ISO
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623
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BMPR1B
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension
ClinVar
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532
NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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BMPR2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
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: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:24583436 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:26820968 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29718794 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30084161 PMID:30578397 PMID:30679663 PMID:30809644 PMID:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 PMID:34589526 PMID:36675162 More...
NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
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C13H2orf80
chromosome 13 C2orf80 homolog
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,396,712...95,421,688
Ensembl chr2B:213,519,806...213,544,445
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CARF
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028
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CAV1
caveolin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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CCNYL1
cyclin Y like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:94,947,540...94,996,820
Ensembl chr2B:213,073,689...213,122,423
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CD28
CD28 molecule
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213
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CDK15
cyclin dependent kinase 15
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr2B:89,060,334...89,149,106
Ensembl chr2B:207,215,058...207,304,029
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CMKLR2
chemerin chemokine-like receptor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,412,985...93,455,750
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CPO
carboxypeptidase O
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:94,033,058...94,205,134
Ensembl chr2B:212,301,718...212,331,611
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CPS1
carbamoyl-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
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CREB1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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CRYGA
crystallin gamma A
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,392,084...95,395,480
Ensembl chr2B:213,515,174...213,518,022
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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CYP20A1
cytochrome P450 family 20 subfamily A member 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,473,024...90,539,177
Ensembl chr2B:208,615,273...208,672,731
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DYTN
dystrotelin
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,886,337...93,952,708
Ensembl chr2B:212,014,554...212,073,079
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EEF1B2
eukaryotic translation elongation factor 1 beta 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,399,413...93,402,779
Ensembl chr2B:211,528,497...211,531,826
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FAM117B
family with sequence similarity 117 member B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:89,896,400...90,030,724
Ensembl chr2B:208,042,146...208,173,180
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FASTKD2
FAST kinase domains 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,999,837...94,030,683
Ensembl chr2B:212,129,283...212,154,329
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FBXO32
F-box protein 32
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 8:120,192,822...120,236,116
Ensembl chr 8:122,954,343...122,992,157
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FGFR2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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FOXF1
forkhead box F1
ISO
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar
PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 PMID:23034409 PMID:23074687 PMID:23335808 PMID:23505205 PMID:23943206 PMID:24033266 PMID:24842713 PMID:26462560 More...
NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949
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FZD5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,003,246...95,010,577
Ensembl chr2B:213,133,017...213,134,774
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FZD7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr2B:89,290,929...89,294,873
Ensembl chr2B:207,439,942...207,446,283
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HDAC1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
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HDAC4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
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HDAC5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr17:13,273,052...13,319,695
Ensembl chr17:13,446,836...13,479,140
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ICA1L
islet cell autoantigen 1 like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254
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ICOS
inducible T cell costimulator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
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ID1
inhibitor of DNA binding 1
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr20:27,895,177...27,896,414
Ensembl chr20:28,535,582...28,536,311
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
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INO80D
INO80 complex subunit D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,233,672...93,325,871
Ensembl chr2B:211,373,993...211,433,124
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KANSL1L
KAT8 regulatory NSL complex subunit 1 like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,279,218...97,429,158
Ensembl chr2B:215,683,077...215,816,666
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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KLF7
KLF transcription factor 7
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:94,307,334...94,399,553
Ensembl chr2B:212,448,337...212,525,403
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LANCL1
LanC like glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,689,353...97,735,403
Ensembl chr2B:216,090,580...216,136,826
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LOC100978046
gamma-crystallin D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,352,149...95,356,237
Ensembl chr2B:213,476,336...213,479,279
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LOC100978392
gamma-crystallin C
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,359,514...95,361,201
Ensembl chr2B:213,482,830...213,484,517
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LOC100978706
gamma-crystallin B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,373,199...95,378,131
Ensembl chr2B:213,497,286...213,500,951
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MAP2
microtubule associated protein 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
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MDH1B
malate dehydrogenase 1B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,972,114...93,999,996
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METTL21A
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:94,814,225...94,856,558
Ensembl chr2B:212,969,269...212,983,177
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MFN1
mitofusin 1
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
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MFN2
mitofusin 2
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
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MYL1
myosin light chain 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,548,013...97,573,336
Ensembl chr2B:215,950,087...215,974,852
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NBEAL1
neurobeachin like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273
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NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496
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NOP58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763
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NRP2
neuropilin 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:92,911,721...93,027,032
Ensembl chr2B:211,042,324...211,157,547
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PARD3B
par-3 family cell polarity regulator beta
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:91,774,815...92,848,957
Ensembl chr2B:210,056,697...210,975,405
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PIKFYVE
phosphoinositide kinase, FYVE-type zinc finger containing
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,505,376...95,597,792
Ensembl chr2B:213,628,997...213,721,299
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PLEKHM3
pleckstrin homology domain containing M3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,061,743...95,265,162
Ensembl chr2B:213,193,876...213,389,109
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PPARG
peroxisome proliferator activated receptor gamma
ISO
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PTGIS
prostaglandin I2 synthase
ISO
DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)
RGD
PMID:32236489
RGD:401901150
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
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PTH2R
parathyroid hormone 2 receptor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:95,598,732...95,746,699
Ensembl chr2B:213,769,735...213,866,519
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RAPH1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624
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RFC1
replication factor C subunit 1
ISO
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548
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RPE
ribulose-5-phosphate-3-epimerase
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,260,348...97,282,397
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RYR1
ryanodine receptor 1
ISO
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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SMAD9
SMAD family member 9
ISO
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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SOX17
SRY-box transcription factor 17
ISO
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808
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SUMO1
small ubiquitin like modifier 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590
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TNFSF4
TNF superfamily member 4
ISO
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845 Ensembl chr 1:152,391,450...152,415,845
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TRIM63
tripartite motif containing 63
ISO
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 1:25,309,949...25,373,658
Ensembl chr 1:26,378,373...26,392,041
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UNC80
unc-80 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423
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VIP
vasoactive intestinal peptide
ISO
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
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WDR12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783
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ZDBF2
zinc finger DBF-type containing 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047
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ACVRL1
activin A receptor like type 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16690726 PMID:16705692 PMID:17384219 PMID:18159113 PMID:18495117 PMID:18498373 PMID:19555857 PMID:20414677 PMID:20501893 PMID:21158752 PMID:22632830 PMID:23298310 PMID:23535011 PMID:23722869 PMID:24753439 PMID:25557927 PMID:25741868 PMID:26387786 PMID:27316748 PMID:28492532 PMID:28918311 PMID:29449337 PMID:29515340 PMID:31400083 PMID:31727138 PMID:32300199 PMID:32503579 PMID:32581362 PMID:34872578 More...
NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
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BMPR2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
OMIM ClinVar
PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24583436 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29718794 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30084161 PMID:30578397 PMID:30679663 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 PMID:34400635 PMID:34589526 PMID:36675162 More...
NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 PMID:26387786 PMID:28492532 PMID:30029678 PMID:30665703 PMID:31019283 More...
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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KCNA5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:28492532 More...
NCBI chr12:5,165,057...5,168,307
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380
NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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NOP58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763
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PAH
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 PMID:8116675 PMID:8304187 PMID:8533759 PMID:8831077 PMID:9634518 PMID:10234516 PMID:10598814 PMID:10693064 PMID:11180595 PMID:11385716 PMID:11461196 PMID:11524738 PMID:11588399 PMID:12409276 PMID:12649065 PMID:12655546 PMID:12655553 PMID:12765842 PMID:15503242 PMID:16601866 PMID:16755493 PMID:16879198 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19394257 PMID:20082265 PMID:20920871 PMID:21147011 PMID:22513348 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23500595 PMID:23792259 PMID:24048906 PMID:24301756 PMID:24350308 PMID:24401910 PMID:25525159 PMID:25596310 PMID:25741868 PMID:26351554 PMID:26467025 PMID:26503515 PMID:26666653 PMID:26982749 PMID:28492532 PMID:28982351 PMID:29499199 PMID:29997390 PMID:30050108 PMID:30067850 PMID:30311390 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 PMID:34828281 More...
NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
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SMAD1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135
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SMAD4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:28492532 PMID:31515488 More...
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
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SMAD9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:25741868
NCBI chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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TBX4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID: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 PMID:36085161 More...
NCBI chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413
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SMAD9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29631995 PMID:29650961 PMID:30029678 PMID:31727138 More...
NCBI chr13:18,055,427...18,130,571
Ensembl chr13:36,486,597...36,521,646
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BMPR1B
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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CAV1
caveolin 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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KCNK3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28889099 PMID:29650961 PMID:29743074 PMID:30578397 More...
NCBI chr2A:26,688,938...26,729,860
Ensembl chr2A:26,780,475...26,819,123
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ATP13A3
ATPase 13A3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 PMID:35204766 More...
NCBI chr 3:191,698,896...191,782,643
Ensembl chr 3:202,013,633...202,096,324
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CAPNS1
calpain small subunit 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6
ClinVar OMIM
PMID:21972389 PMID:38230350
NCBI chr19:33,059,291...33,069,311
Ensembl chr19:41,806,746...41,816,858
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ACSL3
acyl-CoA synthetase long chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chr2B:110,100,210...110,181,277
Ensembl chr2B:228,706,142...228,759,882
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ADRA2B
adrenoceptor alpha 2B
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472
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AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
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APOB
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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CEP85L
centrosomal protein 85 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:22820313 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
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DPP6
dipeptidyl peptidase like 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 7:145,356,340...146,492,773
Ensembl chr 7:157,635,828...158,220,345
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DSG2
desmoglein 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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DSP
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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GJA1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:22093512
RGD:12910124
NCBI chr 6:119,213,513...119,227,617
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GPD1L
glycerol-3-phosphate dehydrogenase 1 like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:27930701 PMID:28492532
NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
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HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:25145517 PMID:25467552 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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IL6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chr 7:23,415,922...23,420,767
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ITGB3
integrin subunit beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382
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KCNH2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 PMID:26704558 PMID:28492532 PMID:29725305 PMID:32475984 More...
NCBI chr 7:142,528,979...142,562,074
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KCNQ1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr11:2,469,750...2,874,467
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KNG1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149
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LMNA
lamin A/C
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:17711925 PMID:24623722 PMID:25741868 PMID:28492532
NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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LOC100978529
myosin-7
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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MYBPC3
myosin binding protein C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
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MYOM1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
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NEBL
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236
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PKP2
plakophilin 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:27532257 PMID:28492532 PMID:29802319 PMID:31402444
NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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PLN
phospholamban
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:22820313 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
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RYR2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27930701 PMID:28404607 PMID:28492532 PMID:29350269 PMID:29477366 PMID:30615648 More...
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
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SCN3B
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
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SCN5A
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19167345 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:26798387 PMID:27000522 PMID:28492532 PMID:29798782 PMID:29806494 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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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SLC25A4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:177,310,982...177,315,016
Ensembl chr 4:189,531,914...189,534,549
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SP4
Sp4 transcription factor
ISO
RGD
PMID:11007485
RGD:1580019
NCBI chr 7:22,113,013...22,200,012
Ensembl chr 7:21,421,259...21,512,238
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TMEM43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
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TNNI3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219
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TNNT2
troponin T2, cardiac type
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532
NCBI chr 1:176,957,298...176,976,033
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TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:20562447 PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 PMID:26350513 PMID:28074886 PMID:28315637 PMID:28492532 PMID:29568272 PMID:30142439 PMID:31847883 PMID:35089333 More...
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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TTN
titin
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr2B:65,783,512...66,064,618
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PPA2
inorganic pyrophosphatase 2
ISO
ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: Sudden cardiac failure, infantile
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:33826954 PMID:34400813 PMID:34758253 PMID:34930847 More...
NCBI chr 4:97,836,518...97,941,041
Ensembl chr 4:108,449,806...108,553,709
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ANKRD1
ankyrin repeat domain 1
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
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BMP10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr2A:68,901,944...68,912,559
Ensembl chr2A:70,023,655...70,034,420
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
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HSPA1A
heat shock protein family A (Hsp70) member 1A
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:23564583
RGD:7257646
NCBI chr 6:31,476,710...31,491,411
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NPPB
natriuretic peptide B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23122795 PMID:23725445
RGD:7246908 RGD:7247627
NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
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TTN
titin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:26516846 PMID:28492532 More...
NCBI chr2B:65,783,512...66,064,618
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all