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, sub-family C member 8
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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Abcg2
ATP binding cassette subfamily G member 2 (Junior blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
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Acaa1b
acetyl-Coenzyme A acyltransferase 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 9:118,977,111...118,986,149
Ensembl chr 9:118,977,091...118,986,161
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Acaca
acetyl-Coenzyme A carboxylase alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr11:84,020,461...84,292,477
Ensembl chr11:84,020,498...84,292,477
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Acads
acyl-Coenzyme A dehydrogenase, short chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30827304
NCBI chr 5:115,248,358...115,257,405
Ensembl chr 5:115,248,358...115,257,405
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Acan
aggrecan
ISO
mRNA:increased expression:myocardium
RGD
PMID:24595230
RGD:11570548
NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
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Ace
angiotensin I converting enzyme
treatment
ISO
associated with Myocardial Infarction CTD Direct Evidence: marker/mechanism associated with Hypertension
CTD RGD
PMID:18586661 PMID:19620082 PMID:15894569 PMID:22123369
RGD:2325224 , RGD:12859272 , RGD:6893472
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Ace2
angiotensin converting enzyme 2
IAGP ISO
mRNA, protein:increased expression:heart (human) CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:25973029 PMID:32227090
RGD:40818416
NCBI chr X:162,922,338...162,971,414
Ensembl chr X:162,922,328...162,971,416
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Acly
ATP citrate lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr11:100,367,178...100,418,826
Ensembl chr11:100,367,179...100,418,826
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641
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Adam17
a disintegrin and metallopeptidase domain 17
treatment
ISO
associated with pulmonary hypertension
RGD
PMID:22628376
RGD:13703064
NCBI chr12:21,373,510...21,423,633
Ensembl chr12:21,373,510...21,423,633
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
associated with cardiovascular disease; protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:19367012 PMID:26670611 PMID:22032915 PMID:18192035
RGD:5686388 , RGD:5686806
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Adm
adrenomedullin
ISO
RGD
PMID:12623952
RGD:704370
NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
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Adra2c
adrenergic receptor, alpha 2c
ISO
DNA:deletion: :322_325del(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of
CTD ClinVar RGD
PMID:12374873 PMID:17496726 PMID:12374873
RGD:1300355
NCBI chr 5:35,435,910...35,439,107
Ensembl chr 5:35,435,663...35,439,107
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Adrb1
adrenergic receptor, beta 1
ISO
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.R389G (human)
ClinVar CTD RGD
PMID:7586371 PMID:10212248 PMID:12374873 PMID:14502278 PMID:15816327 PMID:16844790 PMID:17496726 PMID:21516734 PMID:25741868 PMID:19587314 PMID:14502278 More...
RGD:5129119 , RGD:737774
NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
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Adrb2
adrenergic receptor, beta 2
ISO
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to protein:altered localization:cardiac muscle cell
ClinVar RGD
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19587314 PMID:20185685
RGD:5129119 , RGD:4144900
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Adrb3
adrenergic receptor, beta 3
ISO
protein:increased expression:left ventricle, myocardium (human) CTD Direct Evidence: marker/mechanism protein:increased expression:heart ventricle (rat)
CTD RGD
PMID:15009959 PMID:17440824 PMID:11273992 PMID:21549119
RGD:5684398 , RGD:5684917
NCBI chr 8:27,715,804...27,720,833
Ensembl chr 8:27,715,804...27,740,644
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:20685687
RGD:7244134
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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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
CTD RGD
PMID:1330361 PMID:12025466 PMID:20811386 PMID:17145981 PMID:24465706 PMID:21963897 More...
RGD:1601140 , RGD:11039412 , RGD:8549482
NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
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Agtr1a
angiotensin II receptor, type 1a
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897
RGD:8549482
NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850
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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:21,350,863...21,355,072
Ensembl chr X:21,350,783...21,355,403
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Agxt2
alanine-glyoxylate aminotransferase 2
ISO
DNA:SNP:CDS:V140I (rs37369) (human)
RGD
PMID:27423328
RGD:329961308
NCBI chr15:10,358,602...10,410,244
Ensembl chr15:10,358,618...10,410,239
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Akap6
A kinase anchor protein 6
IMP
RGD
PMID:24812305
RGD:11251930
NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382
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Akap9
A kinase (PRKA) anchor protein (yotiao) 9
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
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Alb
albumin
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11771600 PMID:22158777
RGD:11036096
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Aldh1a7
aldehyde dehydrogenase family 1, subfamily A7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:20,670,318...20,704,920
Ensembl chr19:20,670,317...20,704,926
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Alox12
arachidonate 12-lipoxygenase
ISO
RGD
PMID:15623566
RGD:5509787
NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179
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Alox15
arachidonate 15-lipoxygenase
treatment
ISO IDA
associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176 PMID:34958945 PMID:19546247
RGD:1642301 , RGD:401900155 , RGD:5509627
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ampd1
AMP deaminase 1
susceptibility
ISO
DNA:SNP:exon 2:CDNA:polymorphism::
RGD
PMID:15135700 PMID:10086964
RGD:329349356 , RGD:329349359
NCBI chr 3:102,981,330...103,007,038
Ensembl chr 3:102,981,330...103,007,036
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Ank2
ankyrin 2, brain
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Ankrd23
ankyrin repeat domain 23
ISO
associated with Cardiomyopathy, Congestive
RGD
PMID:15238456
RGD:2314858
NCBI chr 1:36,569,269...36,578,380
Ensembl chr 1:36,569,269...36,575,964 Ensembl chr 1:36,569,269...36,575,964
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Aoc3
amine oxidase, copper containing 3
severity
ISO
protein:increased expression:plasma
RGD
PMID:11052858
RGD:2313827
NCBI chr11:101,221,432...101,230,256
Ensembl chr11:101,221,431...101,232,764
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Apcs
amyloid P component, serum
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16129801
NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608
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Apln
apelin
ISO
protein:increased expression:ventricle myocardium protein:decreased expression:plasma associated with Hypertension, Pulmonary
RGD
PMID:17119870 PMID:16263185 PMID:17055480
RGD:1626186 , RGD:1626175 , RGD:1626171
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
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Apoa1
apolipoprotein A-I
ISO
protein: decreased expression: serum
RGD
PMID:17517342
RGD:5508219
NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
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Apoc1
apolipoprotein C-I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 7:19,423,405...19,426,584
Ensembl chr 7:19,423,406...19,426,585
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Apoe
apolipoprotein E
ISO
associated with Beta-Thalassemia
RGD
PMID:9787187
RGD:11039487
NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
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Arg2
arginase type II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075
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Arrb1
arrestin, beta 1
treatment
ISO
RGD
PMID:21232674
RGD:5509888
NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978
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Atp1a3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18418421
NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383
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Atp2a1
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19776660
NCBI chr 7:126,045,032...126,062,245
Ensembl chr 7:126,045,030...126,062,280
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Atp2a2
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19776660 PMID:21691940
RGD:6903963
NCBI chr 5:122,591,576...122,640,288
Ensembl chr 5:122,591,576...122,640,288
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18179782
NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
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Avpr2
arginine vasopressin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12145768
NCBI chr X:72,935,371...72,938,034
Ensembl chr X:72,935,708...72,939,108
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Bambi
BMP and activin membrane-bound inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr18:3,507,011...3,516,404
Ensembl chr18:3,507,923...3,516,404
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Bax
BCL2-associated X protein
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
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Bcl2
B cell leukemia/lymphoma 2
treatment
ISO
RGD
PMID:18097624 PMID:29746994
RGD:10054097 , RGD:13792577
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Becn1
beclin 1, autophagy related
treatment
ISO
RGD
PMID:18619688
RGD:11560532
NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
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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 chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
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Bnip3
BCL2/adenovirus E1B interacting protein 3
treatment
ISO
RGD
PMID:23508759
RGD:11561982
NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248
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Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
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Calr
calreticulin
IAGP
MouseDO
NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
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Casp1
caspase 1
IEP
mRNA, protein:increased expression:heart left ventricle
RGD
PMID:17303764
RGD:2315913
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Casp12
caspase 12
treatment
ISO
associated with Hypertension associated with myocardial infarction
RGD
PMID:18787714 PMID:27346262
RGD:2311453 , RGD:13782169
NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032
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Casp3
caspase 3
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
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Casq2
calsequestrin 2
ISO
mRNA:increased expression:sinoatrial node
RGD
PMID:21565973
RGD:6771208
NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16105639 PMID:10618301
RGD:1581151
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Cbl
Casitas B-lineage lymphoma
disease_progression
ISO
protein:increased expression:left ventricle myocardium, muscle cell (human) DNA:mutations: :
RGD
PMID:24583314 PMID:33779075
RGD:11251947 , RGD:155630627
NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:heart left ventricle CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29959987 PMID:12950323
RGD:1581156
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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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 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17229371
NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581
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Ccna2
cyclin A2
IMP
RGD
PMID:16820573
RGD:2293348
NCBI chr 3:36,619,014...36,627,187
Ensembl chr 3:36,619,014...36,626,299
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Ccnt1
cyclin T1
IMP
RGD
PMID:15297879
RGD:1556509
NCBI chr15:98,436,570...98,468,340
Ensembl chr15:98,436,570...98,468,804
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:12719858
RGD:1581177
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum
RGD
PMID:15716285
RGD:2314219
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cdk9
cyclin dependent kinase 9
ISO IEP
protein:increased activity:ventricle: protein:increased activity:heart:
RGD
PMID:15297879 PMID:15297879
RGD:1556509 , RGD:1556509
NCBI chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088
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Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
mRNA,protein:increased expression:cardiomyocyte:
RGD
PMID:11033112
RGD:11341730
NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043
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Chdh
choline dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:29,730,957...29,762,423
Ensembl chr14:29,730,980...29,762,484
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Chek2
checkpoint kinase 2
ISO
protein:increased phosphorylation:heart myocardium
RGD
PMID:12702777
RGD:2289708
NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19961288
RGD:4892629
NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
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Chrm4
cholinergic receptor, muscarinic 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr 2:91,752,531...91,760,180
Ensembl chr 2:91,757,594...91,759,033
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Chrna4
cholinergic receptor, nicotinic, alpha polypeptide 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339
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Cidea
cell death-inducing DNA fragmentation factor, alpha subunit-like effector A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr18:67,476,634...67,500,864
Ensembl chr18:67,476,674...67,500,855
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Corin
corin, serine peptidase
ISO
mRNA:increased expression:heart (rat) mRNA:decreased expression:left atrium, right atrium (rat)
RGD
PMID:15191894 PMID:15155264
RGD:1581217 , RGD:1581218
NCBI chr 5:72,457,291...72,661,884
Ensembl chr 5:72,457,368...72,661,816
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Creb1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:34373768
RGD:401960872
NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
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Crp
C-reactive protein, pentraxin-related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28919577 PMID:32420686 PMID:34237397 PMID:34983005 More...
NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936
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Crym
crystallin, mu
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334
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Cs
citrate synthase
severity treatment
ISO
CTD Direct Evidence: marker/mechanism associated with pulmonary hypertension
CTD RGD
PMID:8922916 PMID:7484170 PMID:23099843 PMID:28492791
RGD:243049253 , RGD:243048480 , RGD:243048466
NCBI chr10:128,173,596...128,198,351
Ensembl chr10:128,173,603...128,198,348
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Csf2
colony stimulating factor 2 (granulocyte-macrophage)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11732872
NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
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Csf3
colony stimulating factor 3 (granulocyte)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15585077
NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
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Csrp3
cysteine and glycine-rich protein 3
IAGP
MouseDO
NCBI chr 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781
G
Cst3
cystatin C
susceptibility
ISO
protein:increased expression:serum (human)
RGD
PMID:19539088
RGD:2314311
NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
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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 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797
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Cxcr4
C-X-C motif chemokine receptor 4
IAGP
MouseDO
NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
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Cybb
cytochrome b-245, beta polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
protein:increased expression:heart (rat)
RGD
PMID:19571523
RGD:4891162
NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,859...74,728,167
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
treatment
ISO
RGD
PMID:34958945
RGD:401900155
NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
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Cyp4f16
cytochrome P450, family 4, subfamily f, polypeptide 16
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr17:32,755,517...32,770,772
Ensembl chr17:32,755,532...32,770,772
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Ddr1
discoidin domain receptor family, member 1
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
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Dio3
deiodinase, iodothyronine type III
ISO
associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle
RGD
PMID:18259611
RGD:2303417
NCBI chr12:110,245,664...110,247,531
Ensembl chr12:110,245,502...110,247,531
G
Dmd
dystrophin, muscular dystrophy
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:81,858,244...84,248,656
Ensembl chr X:81,992,476...84,249,747
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Dnmt1
DNA methyltransferase 1
ISO
protein:increased expression:atrium:
RGD
PMID:23573917
RGD:9588286
NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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Dstn
destrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 2:143,757,251...143,785,244
Ensembl chr 2:143,757,240...143,785,244
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Dynll1
dynein light chain LC8-type 1
ISO
protein:increased expression:paraventricular nucleus
RGD
PMID:23832698
RGD:7257598
NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058
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Dyrk1a
dual-specificity tyrosine phosphorylation regulated kinase 1a
treatment
ISO
associated with myocardial infarction
RGD
PMID:26067684
RGD:11097969
NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376
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Ece1
endothelin converting enzyme 1
ISO
mRNA,protein:increased expression:kidney: associated with myocardial ischemia
RGD
PMID:11145756 PMID:9595392 PMID:19596829
RGD:1580911 , RGD:7244244 , RGD:7243876
NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540
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Edn1
endothelin 1
severity treatment
ISO
protein:increased secretion:plasma (human) CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:heart:
CTD RGD
PMID:7967349 PMID:7969316 PMID:9861300 PMID:11136700 PMID:11707688 PMID:16360360 PMID:16762801 PMID:8149524 PMID:10973842 PMID:10199843 More...
RGD:4144845 , RGD:8661798 , RGD:7244167
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Ednra
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
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Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28095452
NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
G
Elovl6
ELOVL fatty acid elongase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 3:129,326,035...129,432,144
Ensembl chr 3:129,326,004...129,432,144
G
Endog
endonuclease G
ISO
mRNa:decreased expression:heart:
RGD
PMID:17292393
RGD:9685393
NCBI chr 2:30,061,525...30,064,057
Ensembl chr 2:30,061,505...30,064,081
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Eng
endoglin
treatment
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:20156938 PMID:20156938
RGD:7257540 , RGD:7257540
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Ep300
E1A binding protein p300
ISO
RGD
PMID:12724418
RGD:2312280
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Ephx2
epoxide hydrolase 2, cytoplasmic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18443590
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
G
Epo
erythropoietin
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:20139114
RGD:10401073
NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
G
Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:10421602
RGD:1580989
NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium
RGD
PMID:10421602
RGD:1580989
NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
G
Esrra
estrogen related receptor, alpha
ISO
protein:decreased expression:heart:
RGD
PMID:21825219
RGD:10401867
NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
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Eya4
EYA transcriptional coactivator and phosphatase 4
ISO
DNA:deletion:introns, exon (human) ClinVar Annotator: match by term: Congestive heart failure
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:15735644
RGD:1598455
NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
G
Fads1
fatty acid desaturase 1
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr19:10,160,245...10,174,238
Ensembl chr19:10,160,252...10,174,241
G
Fads2
fatty acid desaturase 2
treatment
ISO
associated with Left Ventricular Hypertrophy, Cardiac Fibrosis
RGD
PMID:24284026 PMID:22796714
RGD:401901245 , RGD:401901592
NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110
G
Fas
Fas cell surface death receptor
treatment
ISO
mRNA:splice variant:heart left ventricle (human)
RGD
PMID:9367848 PMID:29746994
RGD:8686420 , RGD:13792577
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fasl
Fas ligand
treatment
ISO
RGD
PMID:29746994
RGD:13792577
NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
G
Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
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Fbln5
fibulin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12189163
NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314
G
Fip1l1
factor interacting with PAPOLA and CPSF1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 5:74,695,774...74,759,451
Ensembl chr 5:74,696,110...74,759,461
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Fkbp1b
FK506 binding protein 1b
ISO
associated with Shock, Septic
RGD
PMID:17637193
RGD:2302075
NCBI chr12:4,883,174...4,891,736
Ensembl chr12:4,883,174...4,891,591
G
Fos
FBJ osteosarcoma oncogene
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
G
Fosl1
fos-like antigen 1
ISO
RGD
PMID:15623567
RGD:2293777
NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974
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Foxc1
forkhead box C1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
G
Foxc2
forkhead box C2
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
G
Foxo1
forkhead box O1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642
G
Foxp1
forkhead box P1
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
G
Foxp4
forkhead box P4
ISO
RGD
PMID:16952980
RGD:1582564
NCBI chr17:48,178,058...48,235,401
Ensembl chr17:48,178,058...48,235,570
G
Fth1
ferritin heavy polypeptide 1
ISO
protein:decreased expression:heart
RGD
PMID:18992754
RGD:2315110
NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462
G
Fto
FTO alpha-ketoglutarate dependent dioxygenase
treatment
ISO IEP IMP
mRNA, protein:decreased expression:heart mRNA:increased expression:heart protein:increased expression:heart
RGD
PMID:29997116 PMID:33748197 PMID:36120562 PMID:34728610
RGD:329812009 , RGD:329901854 , RGD:329901853 , RGD:329812038
NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
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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 chr 7:30,751,103...30,758,332
Ensembl chr 7:30,751,103...30,756,624
G
Gatm
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:left ventricle myocardium
CTD RGD
PMID:16820567 PMID:36071497 PMID:16820567
RGD:329955376
NCBI chr 2:122,424,954...122,441,758
Ensembl chr 2:122,424,948...122,441,784
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Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7608802
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
G
Gch1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:30878404
RGD:329961332
NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870
G
Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20855664
NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106
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Ghrl
ghrelin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20572026
NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
G
Gnaq
guanine nucleotide binding protein, alpha q polypeptide
disease_progression no_association
ISO IAGP
DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) DNA:polymorphisms:promoter:multiple
MouseDO RGD
PMID:17720980 PMID:17720980
RGD:126781754 , RGD:126781754
NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827
G
Gnb1
guanine nucleotide binding protein (G protein), beta 1
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
G
Gp6
glycoprotein 6 (platelet)
ISO
protein:increased expression, decreased expression:plasma, platelet (human)
RGD
PMID:27601054
RGD:401794406
NCBI chr 7:4,365,852...4,400,849
Ensembl chr 7:4,366,964...4,400,743
G
Gpx4
glutathione peroxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273
G
Grk1
G protein-coupled receptor kinase 1
ISO
RGD
PMID:12456492
RGD:1600002
NCBI chr 8:13,455,081...13,471,951
Ensembl chr 8:13,455,081...13,471,951
G
Grk2
G protein-coupled receptor kinase 2
treatment
IAGP ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human) CTD Direct Evidence: marker/mechanism associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat)
CTD RGD
PMID:26670611 PMID:11331748 PMID:26248277 PMID:29247373 PMID:9931137
RGD:737776 , RGD:11535540 , RGD:13506830 , RGD:1625790
NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250
G
Grk3
G protein-coupled receptor kinase 3
severity
ISO
mRNA:decreased expression:heart left ventricle (human)
RGD
PMID:22685168
RGD:13506835
NCBI chr 5:113,058,344...113,163,518
Ensembl chr 5:113,058,348...113,163,657
G
Grk5
G protein-coupled receptor kinase 5
severity
ISO
mRNA:decreased expression:heart left ventricle (human) mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:22685168 PMID:26248277
RGD:13506835 , RGD:11535540
NCBI chr19:60,877,995...61,084,406
Ensembl chr19:60,878,187...61,084,406
G
Grp
gastrin releasing peptide
exacerbates
ISO
protein:increased expression:plasma (human) protein:decreased expression:plasma (human)
RGD
PMID:30145817 PMID:1396815
RGD:329961562 , RGD:401700398
NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667
G
Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17901358
NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446
G
H19
H19, imprinted maternally expressed transcript
severity
ISO
CTD Direct Evidence: marker/mechanism associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
CTD RGD
PMID:36071497 PMID:27317124
RGD:243048444
NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,131,917
G
Hamp
hepcidin antimicrobial peptide
ISO
protein:increased expression:serum, urine
RGD
PMID:21080339
RGD:11041621
NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
G
Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668
G
Hcn4
hyperpolarization-activated, cyclic nucleotide-gated K+ 4
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458
G
Hif1a
hypoxia inducible factor 1, alpha subunit
ISO
protein:increased expression:heart right ventricle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15732037 PMID:17582388
RGD:9068910
NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
G
Hmgb1
high mobility group box 1
treatment
ISO
protein:decreased expression:heart
RGD
PMID:23708738 PMID:24204700
RGD:10402070 , RGD:10402081
NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
G
Hmgcs2
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:98,187,747...98,218,054
Ensembl chr 3:98,187,751...98,218,054
G
Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22352330 PMID:23592614
RGD:10755584
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
Hotair
HOX transcript antisense RNA (non-protein coding)
severity
ISO
associated with ischemic cardiomyopathy; RNA:decreased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr15:102,852,497...102,856,381
Ensembl chr15:102,852,494...102,856,165
G
Hottip
Hoxa distal transcript antisense RNA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:52,239,760...52,244,588
Ensembl chr 6:52,239,760...52,244,588
G
Hoxa11os
homeobox A11, opposite strand
ISO
CTD Direct Evidence: marker/mechanism associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
CTD RGD
PMID:36071497 PMID:27317124
RGD:243048444
NCBI chr 6:52,222,013...52,226,770
Ensembl chr 6:52,221,373...52,226,779
G
Hp
haptoglobin
treatment
ISO
RGD
PMID:23494325
RGD:11041812
NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
G
Hrh2
histamine receptor H2
susceptibility
IMP
RGD
PMID:24655024
RGD:9685523
NCBI chr13:54,345,990...54,390,201
Ensembl chr13:54,346,148...54,390,199
G
Hsf1
heat shock factor 1
ISO
protein:altered localization:heart left ventricle (rat)
RGD
PMID:24285117
RGD:10402754
NCBI chr15:76,361,562...76,385,355
Ensembl chr15:76,361,622...76,386,113
G
Hspb1
heat shock protein 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17481944
NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417
G
Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
mRNA:increased expression:heart left ventricle
RGD
PMID:16002744
RGD:1600503
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
G
Htr2b
5-hydroxytryptamine (serotonin) receptor 2B
ISO
mRNA:increased expression:left ventricle cardiac muscle (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19023134 PMID:17936780
RGD:9698457
NCBI chr 1:86,025,268...86,043,960
Ensembl chr 1:86,026,748...86,039,692
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Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:34,560,519...34,566,382
Ensembl chr19:34,560,931...34,566,131
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:20938210
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:12835956
RGD:1598415
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il10
interleukin 10
disease_progression treatment
ISO
mRNA, protein:decreased expression:cardiac ventricle (rat)
RGD
PMID:16461369 PMID:28939262 PMID:23778495
RGD:1598465 , RGD:14975271 , RGD:7365020
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il17a
interleukin 17A
ISO
protein:increased expression:heart
RGD
PMID:19909738 PMID:19527710
RGD:2325816 , RGD:4831836
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135663
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il6
interleukin 6
ISO
associated with Hypertension;mRNA:increased expression:heart CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
CTD RGD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:28939262 PMID:18999900
RGD:5128682 , RGD:14975271 , RGD:2307285
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Il6ra
interleukin 6 receptor, alpha
ISO
protein:increased expression:paraventricular hypothalamic nucleus
RGD
PMID:17095650
RGD:1625433
NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
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Inhba
inhibin 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 chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206
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Ins2
insulin II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15628829
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Irx1
Iroquois homeobox 1
treatment
ISO
RGD
PMID:31640472
RGD:329950496
NCBI chr13:72,106,351...72,111,842
Ensembl chr13:72,106,040...72,111,842
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Itgb1
integrin beta 1 (fibronectin receptor beta)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11884376
NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681
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Kat8
K(lysine) acetyltransferase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27768893
NCBI chr 7:127,511,689...127,525,010
Ensembl chr 7:127,511,688...127,525,009
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Kcne1
potassium voltage-gated channel, Isk-related subfamily, member 1
ISO
associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum (rat) mRNA:increased expression:endocardium of right ventricle:
RGD
PMID:16497176 PMID:17384445
RGD:1642301 , RGD:12910696
NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356
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Kcnk2
potassium channel, subfamily K, member 2
ISO
associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat)
RGD
PMID:25016242
RGD:9831185
NCBI chr 1:188,940,127...189,134,951
Ensembl chr 1:188,940,127...189,134,470
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Kdm2a
lysine (K)-specific demethylase 2A
IEP
protein:altered localization:promoter (mouse)
RGD
PMID:25181347
RGD:9588275
NCBI chr19:4,366,172...4,448,749
Ensembl chr19:4,364,447...4,448,313
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Lep
leptin
IMP
RGD
PMID:18006469
RGD:5128823
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Lepr
leptin receptor
IEP ISO
protein:increased phosphorylation:heart DNA:mutations:cds: : (rat)
RGD
PMID:18006469 PMID:32710530
RGD:5128823 , RGD:401960103
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Lgals3
lectin, galactose binding, soluble 3
ISO
RGD
PMID:15520318
RGD:9685214
NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
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Lif
leukemia inhibitory factor
ISO
RGD
PMID:20051627
RGD:2326058
NCBI chr11:4,207,587...4,222,514
Ensembl chr11:4,207,557...4,222,514
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Lrrc10
leucine rich repeat containing 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:116,881,246...116,882,673
Ensembl chr10:116,881,246...116,882,673
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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 chr12:84,829,986...84,923,581
Ensembl chr12:84,829,986...84,923,306
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Map2k1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
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Map2k7
mitogen-activated protein kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 Ensembl chr 8:4,288,740...4,297,897
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Map3k5
mitogen-activated protein kinase kinase kinase 5
IEP
protein:increased activity:heart:
RGD
PMID:17562954
RGD:10412331
NCBI chr10:19,809,847...20,018,496
Ensembl chr10:19,810,218...20,018,499
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Map3k7
mitogen-activated protein kinase kinase kinase 7
treatment
IMP IEP
RGD
PMID:25278099 PMID:10802712 PMID:26706286
RGD:11534146 , RGD:155804285 , RGD:155791673
NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467
G
Mapk10
mitogen-activated protein kinase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 5:103,056,413...103,359,200
Ensembl chr 5:103,055,814...103,359,200
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Mas1
MAS1 oncogene
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:21963897
RGD:8549482
NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030
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Mdh2
malate dehydrogenase 2, NAD (mitochondrial)
ISO
RGD
PMID:16786185
RGD:1582470
NCBI chr 5:135,807,503...135,819,240
Ensembl chr 5:135,807,334...135,819,252
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Med1
mediator complex subunit 1
IAGP
MouseDO
NCBI chr11:98,042,980...98,084,121
Ensembl chr11:98,042,980...98,084,119
G
Mir106b
microRNA 106b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 5:138,163,999...138,164,080
Ensembl chr 5:138,163,999...138,164,080
G
Mir107
microRNA 107
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr19:34,798,087...34,798,173
Ensembl chr19:34,798,087...34,798,173
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Mir125a
microRNA 125a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:18,051,074...18,051,141
Ensembl chr17:18,051,074...18,051,141
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Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441
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Mir133a-2
microRNA 133a-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 2:180,040,172...180,040,275
Ensembl chr 2:180,040,172...180,040,275
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Mir140
microRNA 140
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:108,277,876...108,277,945
Ensembl chr 8:108,277,876...108,277,945
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Mir143
microRNA 143
severity
ISO
RGD
PMID:29728596
RGD:155882581
NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329
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Mir144
microRNA 144
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:77,963,831...77,963,896
Ensembl chr11:77,963,831...77,963,896
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Mir145a
microRNA 145a
disease_progression treatment
ISO
associated with acute myocardial infarction; miRNA:decreased expression:blood plasma (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36071497 PMID:28051023 PMID:32554856
RGD:155260283 , RGD:155260293
NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965
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Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:51,246,792...51,246,890
Ensembl chr 6:51,246,792...51,246,890
G
Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:44,771,181...44,771,245
Ensembl chr 7:44,771,181...44,771,245
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Mir151
microRNA 151
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:73,126,664...73,126,731
Ensembl chr15:73,126,664...73,126,731
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Mir15a
microRNA 15a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
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Mir15b
microRNA 15b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 3:68,917,105...68,917,168
Ensembl chr 3:68,917,105...68,917,168
G
Mir17
microRNA 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:115,281,103...115,281,186
Ensembl chr14:115,281,103...115,281,186
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Mir18
microRNA 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:115,281,283...115,281,378
Ensembl chr14:115,281,283...115,281,378
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Mir18b
microRNA 18b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:51,831,208...51,831,290
Ensembl chr X:51,831,208...51,831,290
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Mir191
microRNA 191
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591
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Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:13,267,387...13,267,465
Ensembl chr16:13,267,387...13,267,465
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Mir195a
microRNA 195a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:70,125,868...70,125,961
Ensembl chr11:70,125,868...70,125,961
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:115,281,432...115,281,513
Ensembl chr14:115,281,432...115,281,513
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Mir20a
microRNA 20a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695
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Mir20b
microRNA 20b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:51,830,990...51,831,069
Ensembl chr X:51,830,990...51,831,069
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Mir210
microRNA 210
severity
ISO
associated with Dyspnea; miRNA:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36071497 PMID:33783502
RGD:155269041
NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406
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Mir21a
microRNA 21a
disease_progression treatment
IEP ISO IMP
CTD Direct Evidence: marker/mechanism RNA:increased expression:left ventricular myocardium RNA:increased expression:heart, myofibroblast:
CTD RGD
PMID:36071497 PMID:19043405 PMID:19043405 PMID:19043405 PMID:19043405
RGD:41404712 , RGD:41404712 , RGD:41404712 , RGD:41404712
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Mir23a
microRNA 23a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
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Mir26b
microRNA 26b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:74,433,469...74,433,553
Ensembl chr 1:74,433,469...74,433,553
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Mir27a
microRNA 27a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 8:84,935,301...84,935,387
Ensembl chr 8:84,935,301...84,935,387
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Mir28a
microRNA 28a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr16:24,646,605...24,646,690
Ensembl chr16:24,646,605...24,646,690
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Mir29c
microRNA 29c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942
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Mir301
microRNA 301
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:87,003,830...87,003,915
Ensembl chr11:87,003,830...87,003,915
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Mir30b
microRNA 30b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:68,209,264...68,209,359
Ensembl chr15:68,209,264...68,209,359
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Mir30e
microRNA 30e
ISO
miRNA:decreased expression:heart (rat)
RGD
PMID:25950484
RGD:11541106
NCBI chr 4:120,629,803...120,629,894
Ensembl chr 4:120,629,803...120,629,894
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Mir326
microRNA 326
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570
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Mir342
microRNA 342
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:108,624,879...108,624,977
Ensembl chr12:108,624,879...108,624,977
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Mir34a
microRNA 34a
ISO
RNA:increased expression:heart
RGD
PMID:29373037
RGD:26923905
NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
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Mir361
microRNA 361
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:111,984,521...111,984,590
Ensembl chr X:111,984,521...111,984,590
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Mir409
microRNA 409
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670
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Mir423
microRNA 423
ISO
miRNA:increased expression:plasma
RGD
PMID:20185794
RGD:158014892
NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998
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Mir484
microRNA 484
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:13,977,490...13,977,556
Ensembl chr16:13,977,490...13,977,556
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Mir494
microRNA 494
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
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Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:7,114,641...7,114,736
Ensembl chr X:7,114,641...7,114,736
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Mir574
microRNA 574
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 5:65,127,661...65,127,738
Ensembl chr 5:65,127,661...65,127,738
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Mir664
microRNA 664
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:184,975,172...184,975,240
Ensembl chr 1:184,975,172...184,975,240
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Mir93
microRNA 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 5:138,163,785...138,163,872
Ensembl chr 5:138,163,785...138,163,872
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Mir96
microRNA 96
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:30,169,445...30,169,550
Ensembl chr 6:30,169,445...30,169,550
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Mir98
microRNA 98
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr X:150,696,210...150,696,317
Ensembl chr X:150,696,210...150,696,317
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Mir99b
microRNA 99b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr17:18,050,450...18,050,519
Ensembl chr17:18,050,450...18,050,519
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Mirlet7g
microRNA let7g
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 9:106,056,039...106,056,126
Ensembl chr 9:106,056,039...106,056,126
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Mirlet7i
microRNA let7i
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:122,821,545...122,821,629
Ensembl chr10:122,821,545...122,821,629
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Mme
membrane metallo endopeptidase
ISO
RGD
PMID:12383878
RGD:13801043
NCBI chr 3:63,202,632...63,291,134
Ensembl chr 3:63,148,958...63,293,451
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Mmp13
matrix metallopeptidase 13
disease_progression
ISO
protein:increased expression:left ventricle (rat) associated with Hypertension
RGD
PMID:10773235 PMID:10773234
RGD:1582587 , RGD:2290467
NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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Mmp14
matrix metallopeptidase 14 (membrane-inserted)
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
ISO
RGD
PMID:12892382 PMID:21866669
RGD:1582539 , RGD:7207282
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
ISO
RGD
PMID:12892382 PMID:21866669
RGD:1582539 RGD:7207282
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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Mmp2
matrix metallopeptidase 2
severity
ISO
mRNA:increased expression:heart left ventricle protein:increased expression:heart left ventricle, plasma
RGD
PMID:10773234 PMID:20606426 PMID:16169329
RGD:2290467 , RGD:8694112 , RGD:1582574
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:heart left ventricle, plasma
RGD
PMID:20606426
RGD:8694112
NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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Mmp8
matrix metallopeptidase 8
disease_progression
ISO
protein:increased expression:left ventricle (rat)
RGD
PMID:10773235
RGD:1582587
NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486
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Mmp9
matrix metallopeptidase 9
ISO
associated with Hypertension, Pulmonary; protein:increased expression:heart protein:increased expression:heart left ventricle, plasma
RGD
PMID:17913382 PMID:20606426 PMID:11342481 PMID:16952784
RGD:5130174 , RGD:8694112 , RGD:7207137 , RGD:1582647
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Mstn
myostatin
ISO
mRNA, protein:increased expression:myocardium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16968467 PMID:16968467
RGD:2303554
NCBI chr 1:53,100,799...53,107,238
Ensembl chr 1:53,100,799...53,107,238
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Mthfd2
methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:83,282,686...83,302,926
Ensembl chr 6:83,282,673...83,302,890
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Mtor
mechanistic target of rapamycin kinase
ISO
mRNA, protein:increased expression:heart
RGD
PMID:20861467
RGD:10003169
NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
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Mtpn
myotrophin
IAGP
MouseDO
NCBI chr 6:35,485,759...35,516,823
Ensembl chr 6:35,485,841...35,516,823
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Mx1
MX dynamin-like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107
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Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
treatment
ISO
mRNA:decreased expression:heart left ventricle ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure associated with Myocardial Infarction
ClinVar RGD
PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:9410916 PMID:18088389 More...
RGD:1580923 , RGD:12792974
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
treatment
ISO
associated with Myocardial Infarction
RGD
PMID:18088389
RGD:12792974
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Myl2
myosin, light polypeptide 2, regulatory, cardiac, slow
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
PMID:12404107 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 5:122,230,787...122,251,536
Ensembl chr 5:122,239,014...122,251,535
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Myoc
myocilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262
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Myocd
myocardin
IMP
RGD
PMID:19850880
RGD:11251948
NCBI chr11:65,064,434...65,160,821
Ensembl chr11:65,067,387...65,160,815
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Myod1
myogenic differentiation 1
treatment
ISO
associated with Aortic Valve Stenosis
RGD
PMID:20060348
RGD:9686081
NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523
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Myot
myotilin
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 PMID:31404076 More...
NCBI chr18:44,467,126...44,488,795
Ensembl chr18:44,467,141...44,488,791
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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 chr10:62,951,574...63,039,731
Ensembl chr10:62,951,574...63,039,731
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Ncam1
neural cell adhesion molecule 1
ISO
mRNA, protein:increased expression:heart
RGD
PMID:19853610
RGD:2325979
NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
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Nfe2l2
nuclear factor, erythroid derived 2, like 2
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:28373008 PMID:29373037
RGD:26923905
NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985
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Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
associated with Myocardial Infarction;mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
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Nisch
nischarin
ISO
RGD
PMID:12021582
RGD:1581128
NCBI chr14:30,892,885...30,928,783
Ensembl chr14:30,892,887...30,938,903
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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 chr11:93,840,640...93,847,082
Ensembl chr11:93,840,640...93,847,085
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Nos1
nitric oxide synthase 1, neuronal
ISO
RGD
PMID:15466641 PMID:23832698
RGD:1581144 , RGD:7257598
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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Nos1ap
nitric oxide synthase 1 (neuronal) adaptor protein
ISO
mRNA:increased expression:brain
RGD
PMID:21831995
RGD:7327163
NCBI chr 1:170,143,039...170,417,371
Ensembl chr 1:170,130,237...170,417,430
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Nos2
nitric oxide synthase 2, inducible
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19168511
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19168511 PMID:20304815 PMID:29351461
RGD:13504746
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nox1
NADPH oxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr X:132,987,170...133,038,455
Ensembl chr X:132,987,170...133,122,705
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Nox4
NADPH oxidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 7:86,893,638...87,047,918
Ensembl chr 7:86,895,304...87,047,918
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Nppa
natriuretic peptide precursor type A
treatment severity
ISO
mRNA,protein:increased expression:heart,plasma CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:1647690 PMID:8112904 PMID:11136700 PMID:16101196 PMID:11421854 PMID:23931972 PMID:23566312 PMID:2143809 More...
RGD:1580139 , RGD:7297049 , RGD:7247714 , RGD:1580140
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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Nppb
natriuretic peptide type B
severity
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism|therapeutic associated with Diabetes Mellitus;protein:increased expression:plasma mRNA,protein:increased expression:heart,plasma
CTD RGD
PMID:11136700 PMID:11279304 PMID:12628948 PMID:15732037 PMID:15860969 PMID:16101196 PMID:16333235 PMID:16360360 PMID:16762801 PMID:16777915 PMID:19650993 PMID:24535859 PMID:29959987 PMID:2143809 PMID:1831369 PMID:17257273 PMID:11421854 More...
RGD:1580140 , RGD:7247316 , RGD:1642196 , RGD:1580139
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
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Npr1
natriuretic peptide receptor 1
IMP ISO IEP
associated with Hypertension CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney
CTD RGD
PMID:20881240 PMID:9405681 PMID:17264312
RGD:737701 , RGD:7247730
NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173
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Nptxr
neuronal pentraxin receptor
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr15:79,670,552...79,688,910
Ensembl chr15:79,670,552...79,688,967
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Npy
neuropeptide Y
ISO
RGD
PMID:17804485
RGD:7175103
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
ISO
RGD
PMID:21737535
RGD:7174712
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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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 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641
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Nrg1
neuregulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19801490
NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825 Ensembl chr 8:32,304,579...33,374,825
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Nrip1
nuclear receptor interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22503866
NCBI chr16:76,084,291...76,170,930
Ensembl chr16:76,084,288...76,170,715
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Ogdhl
oxoglutarate dehydrogenase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr14:32,043,941...32,070,108
Ensembl chr14:32,043,976...32,070,108
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Ogt
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
ISO
protein:increased expression:heart left ventricle (rat)
RGD
PMID:22128088
RGD:9590202
NCBI chr X:100,683,617...100,727,957
Ensembl chr X:100,683,666...100,727,957
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Olr1
oxidized low density lipoprotein (lectin-like) receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 6:129,456,113...129,484,312
Ensembl chr 6:129,462,207...129,484,128
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
protein:decreased expression:heart
RGD
PMID:19493956
RGD:7800717
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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Oprk1
opioid receptor, kappa 1
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 1:5,658,673...5,676,357
Ensembl chr 1:5,658,689...5,676,354
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P2rx4
purinergic receptor P2X, ligand-gated ion channel 4
ISO
associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
RGD
PMID:16497176
RGD:1642301
NCBI chr 5:122,845,581...122,867,802
Ensembl chr 5:122,845,607...122,867,801
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Pamr1
peptidase domain containing associated with muscle regeneration 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 2:102,380,325...102,473,386
Ensembl chr 2:102,380,357...102,473,386
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Parp1
poly (ADP-ribose) polymerase family, member 1
treatment
ISO
associated with Hypertension
RGD
PMID:19443425
RGD:11074236
NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
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Pck1
phosphoenolpyruvate carboxykinase 1, cytosolic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
IEP
protein:decreased expression:heart:
RGD
PMID:23647599
RGD:10448278
NCBI chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
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Pde9a
phosphodiesterase 9A
severity treatment
ISO
mRNA:increased expression:heart, peripheral blood mononuclear cell
RGD
PMID:33787083 PMID:28649129
RGD:240191787 , RGD:241060360
NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
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Pdgfra
platelet derived growth factor receptor, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28347583
NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19429709
NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898
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Pdyn
prodynorphin
ISO
mRNA, protein:increased expression:left heart ventricle
RGD
PMID:26365878
RGD:401900132
NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 5:117,420,716...117,425,629
Ensembl chr 5:117,420,719...117,425,690
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Pgf
placental growth factor
ISO
RGD
PMID:19327525
RGD:6483590
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
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Phf6
PHD finger protein 6
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:52,001,091...52,045,838
Ensembl chr X:52,001,143...52,045,820
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12963636 PMID:15936620
RGD:6482699
NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
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Pla2g7
phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
ISO
RGD
PMID:16952920
RGD:6482778
NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092
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Plat
plasminogen activator, tissue
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
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Plcd1
phospholipase C, delta 1
ISO
RGD
PMID:11181012
RGD:2300431
NCBI chr 9:118,900,595...118,922,570
Ensembl chr 9:118,900,595...118,922,570
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Pld2
phospholipase D2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:15601581
RGD:2299908
NCBI chr11:70,430,318...70,448,936
Ensembl chr11:70,430,890...70,448,936
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Pln
phospholamban
treatment
ISO
associated with Hypertension associated with Myocardial Infarction
RGD
PMID:22970977 PMID:22947202
RGD:7327181 , RGD:7327182
NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35218467
NCBI chr 7:141,035,101...141,040,656
Ensembl chr 7:141,035,111...141,040,656
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Pomc
pro-opiomelanocortin-alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3026683 PMID:8277081
NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180
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Postn
periostin, osteoblast specific factor
treatment
ISO
mRNA:increased expression:heart
RGD
PMID:16414453 PMID:15381649
RGD:10040951 , RGD:10040999
NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458
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Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ppargc1a
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
onset
IDA IAGP ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:heart (mouse)
MouseDO CTD RGD
PMID:19808358 PMID:22503866 PMID:23342071 PMID:23297372
RGD:7241838 , RGD:7241843
NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068
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Ppm1k
protein phosphatase 1K (PP2C domain containing)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:57,483,487...57,512,537
Ensembl chr 6:57,483,487...57,512,453
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Ppp1ca
protein phosphatase 1 catalytic subunit alpha
IMP
RGD
PMID:12024026
RGD:737728
NCBI chr19:4,242,173...4,245,418
Ensembl chr19:4,242,064...4,245,419
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Ppp1cc
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:heart, membrane
RGD
PMID:26668322
RGD:11526267
NCBI chr 5:122,296,338...122,313,336
Ensembl chr 5:122,296,341...122,313,336
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Ppp1r1a
protein phosphatase 1, regulatory inhibitor subunit 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20071777
NCBI chr15:103,438,706...103,446,465
Ensembl chr15:103,438,706...103,446,430
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Ppp2ca
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform
ISO
mRNA:increased expression:vastus lateralis muscle (human)
RGD
PMID:14567976
RGD:8693707
NCBI chr11:51,989,651...52,013,576
Ensembl chr11:51,989,508...52,018,605
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Prkaca
protein kinase, cAMP dependent, catalytic, alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr 8:84,699,607...84,723,073
Ensembl chr 8:84,699,622...84,723,072
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Prkag2
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
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 5:25,067,733...25,311,576
Ensembl chr 5:25,067,742...25,305,640
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Prkar2a
protein kinase, cAMP dependent regulatory, type II alpha
ISO
RGD
PMID:10830164
RGD:1580714
NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635
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Prkar2b
protein kinase, cAMP dependent regulatory, type II beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr12:32,008,468...32,111,639
Ensembl chr12:32,008,475...32,111,295
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Prkca
protein kinase C, alpha
ISO
protein:increased expression, increased phosphorylation:heart left ventricle
RGD
PMID:17556659
RGD:2292480
NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
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Prkcb
protein kinase C, beta
ISO
associated with hypertension
RGD
PMID:12392998
RGD:1625516
NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18926768
NCBI chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188
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Ptgis
prostaglandin I2 (prostacyclin) synthase
treatment
ISO
RGD
PMID:27802898
RGD:401960097
NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17162251 PMID:21939825
RGD:7242422
NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777
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Ptprf
protein tyrosine phosphatase receptor type F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28751527
NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602
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Rac1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16155095 PMID:12642504
RGD:1581295
NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
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Ramp2
receptor (calcitonin) activity modifying protein 2
ISO
associated with Hypertension
RGD
PMID:12623952
RGD:704370
NCBI chr11:101,137,160...101,139,076
Ensembl chr11:101,136,854...101,150,372
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Rapgef3
Rap guanine nucleotide exchange factor (GEF) 3
ISO
mRNA, protein:increased expression:left ventricle myocardium (human)
RGD
PMID:18323524
RGD:9835356
NCBI chr15:97,637,886...97,666,300
Ensembl chr15:97,642,651...97,665,853
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Rbfox2
RNA binding protein, fox-1 homolog (C. elegans) 2
IEP
protein:decreased expression:heart (mouse)
RGD
PMID:25753418
RGD:329845877
NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204
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Rbm10
RNA binding motif protein 10
ISO
protein:decreased expression:heart
RGD
PMID:30257214
RGD:151667449
NCBI chr X:20,483,596...20,517,128
Ensembl chr X:20,483,742...20,517,140
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Rbm20
RNA binding motif protein 20
ISO
ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:25741868 PMID:28492532 PMID:31376648
NCBI chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511
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Rbp4
retinol binding protein 4, plasma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22785609
RGD:329845590
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Ren1
renin 1 structural
exacerbates
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:blood plasma (human)
CTD RGD
PMID:1647690 PMID:7034517 PMID:20811386 PMID:17526990
RGD:126908011
NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
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Retn
resistin
ISO
associated with Coronary Disease CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26670611 PMID:22240747
RGD:7207075
NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110
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Rmst
rhabdomyosarcoma 2 associated transcript (non-coding RNA)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:91,917,608...92,001,040
Ensembl chr10:91,906,899...92,001,132
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Rnls
renalase, FAD-dependent amine oxidase
ISO
RGD
PMID:21297953
RGD:7327162
NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824
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Rpph1
ribonuclease P RNA component H1
severity
ISO
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr14:51,044,904...51,045,228
Ensembl chr14:51,044,906...51,045,224
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Rrad
Ras-related associated with diabetes
ISO
mRNA, protein:decreased expression:heart
RGD
PMID:18056528
RGD:2311701
NCBI chr 8:105,354,702...105,357,921
Ensembl chr 8:105,354,702...105,357,959
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Rsad2
radical S-adenosyl methionine domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr12:26,492,742...26,506,451
Ensembl chr12:26,492,745...26,506,451
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Ryr1
ryanodine receptor 1, skeletal muscle
ISO IDA
RGD
PMID:29593014 PMID:29593014
RGD:329813079 , RGD:329813079
NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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Ryr2
ryanodine receptor 2, cardiac
ISO
ClinVar Annotator: match by term: Congestive heart failure
ClinVar RGD
PMID:25741868 PMID:28404607 PMID:28492532 PMID:16483256
RGD:1599251
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Scd1
stearoyl-Coenzyme A desaturase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr19:44,382,889...44,396,148
Ensembl chr19:44,382,894...44,396,318
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Scn5a
sodium channel, voltage-gated, type V, alpha
ISO
mRNA:decreased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
mRNA:increased expression:ventricle myocardium
RGD
PMID:19584134
RGD:6484224
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Selp
selectin, platelet
ISO
RGD
PMID:19193626
RGD:2312309
NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24535859
NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
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Sirt3
sirtuin 3
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:22155497
RGD:9586040
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
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Slc22a5
solute carrier family 22 (organic cation transporter), member 5
treatment
ISO
RGD
PMID:22796714
RGD:401901592
NCBI chr11:53,755,368...53,782,609
Ensembl chr11:53,755,368...53,782,486
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Slc2a4
solute carrier family 2 (facilitated glucose transporter), member 4
severity
ISO
protein:decreased expression:skeletal muscle
RGD
PMID:18778861
RGD:2313624
NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
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Slc6a4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
ISO
DNA:repeat:promoter (human)
RGD
PMID:17307423
RGD:4889438
NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166
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Slc8a1
solute carrier family 8 (sodium/calcium exchanger), member 1
ISO
protein:increased expression:cardiac muscle cell
RGD
PMID:17536604
RGD:1642720
NCBI chr17:81,680,534...82,045,816
Ensembl chr17:81,680,534...82,045,806
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Slc9a1
solute carrier family 9 (sodium/hydrogen exchanger), member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027022 PMID:18776042
RGD:6771337
NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013
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Smc1a
structural maintenance of chromosomes 1A
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr X:150,799,386...150,844,969
Ensembl chr X:150,799,424...150,845,690
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Snca
synuclein, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 6:60,708,557...60,806,839
Ensembl chr 6:60,708,559...60,806,839
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Sod1
superoxide dismutase 1, soluble
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
ISO IAGP
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sod3
superoxide dismutase 3, extracellular
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20304815
NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
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Sox2
SRY (sex determining region Y)-box 2
ISO
RGD
PMID:34321385
RGD:155882552
NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610
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Sox2ot
SOX2 overlapping transcript (non-protein coding)
severity
ISO
CTD Direct Evidence: marker/mechanism associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
CTD RGD
PMID:27317124 PMID:36071497
RGD:243048444
NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,736,768
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Sox4
SRY (sex determining region Y)-box 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696
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Sphkap
SPHK1 interactor, AKAP domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 1:83,233,163...83,385,853
Ensembl chr 1:83,231,860...83,385,921
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Sra1
steroid receptor RNA activator 1
severity
ISO
associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)
RGD
PMID:27317124
RGD:243048444
NCBI chr18:36,800,240...36,803,364
Ensembl chr18:36,799,734...36,803,868
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Srf
serum response factor
ISO
mRNA, protein:splice variant:heart
RGD
PMID:11893590
RGD:1581426
NCBI chr17:46,857,764...46,869,194
Ensembl chr17:46,859,255...46,867,101
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Sri
sorcin
ISO
protein:decreased expression:cardiac muscle cell associated with Hypertension
RGD
PMID:20945956 PMID:12754254
RGD:7327198 , RGD:7327200
NCBI chr 5:8,096,078...8,119,314
Ensembl chr 5:8,096,078...8,119,379
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Srsf2
serine and arginine-rich splicing factor 2
disease_progression
ISO
DNA:mutations: :
RGD
PMID:33779075
RGD:155630627
NCBI chr11:116,740,723...116,744,511
Ensembl chr11:116,740,727...116,743,920
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tbx20
T-box 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29394407
NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599
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Th
tyrosine hydroxylase
ISO IMP
protein:increased expression:paraventricular thalamic nucleus (rat)
RGD
PMID:21287352 PMID:7715703
RGD:5128674 , RGD:737737
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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Timp1
tissue inhibitor of metalloproteinase 1
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr X:20,736,524...20,740,972
Ensembl chr X:20,736,405...20,740,974
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Timp2
tissue inhibitor of metalloproteinase 2
ISO
protein:increased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566
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Timp4
tissue inhibitor of metalloproteinase 4
ISO
protein:decreased expression:heart left ventricle
RGD
PMID:10773234
RGD:2290467
NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29959987
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tmem71
transmembrane protein 71
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr15:66,398,061...66,433,085
Ensembl chr15:66,398,061...66,432,952
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Tnf
tumor necrosis factor
treatment severity
ISO IAGP
CTD Direct Evidence: marker/mechanism associated with Myocardial Infarction;
MouseDO CTD RGD
PMID:15135663 PMID:15231041 PMID:17337591 PMID:18034274 PMID:29959987 PMID:15210453 PMID:28939262 PMID:11668085 PMID:11100001 More...
RGD:1580213 , RGD:14975271 , RGD:7401242 , RGD:7401241
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf11b
tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
ISO
mRNA, protein:incereased expression:myocardium
RGD
PMID:15883214
RGD:1624176
NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16360360
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
human protein in rat model
RGD
PMID:21135513
RGD:5131262
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Tnnt2
troponin T2, cardiac
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12322705 PMID:17698733
NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998
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Tomm70a
translocase of outer mitochondrial membrane 70A
ISO
mRNA:decreased expression:heart protein:increased serine phosphorylation:heart, mitochondrion
RGD
PMID:25022898 PMID:24395194
RGD:13464131 , RGD:13464132
NCBI chr16:56,942,077...56,974,893
Ensembl chr16:56,942,066...56,977,068
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Trem1
triggering receptor expressed on myeloid cells 1
treatment
ISO
RGD
PMID:33495812
RGD:127229929
NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952
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Trp53
transformation related protein 53
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21284947
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33594499
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Ttn
titin
ISO
ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure
ClinVar
PMID:15802564 PMID:17344846 PMID:23396983 PMID:23486992 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24231549 PMID:24271327 PMID:24503780 PMID:24569025 PMID:24578547 PMID:25589632 PMID:25741868 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27194543 PMID:27843123 PMID:28256728 PMID:28492532 PMID:28771489 PMID:29361395 PMID:37091313 More...
NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891
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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 chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378
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Tubb5
tubulin, beta 5 class I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16155095
NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198
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Txnrd1
thioredoxin reductase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr10:82,669,785...82,733,558
Ensembl chr10:82,669,785...82,733,546
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Ucn
urocortin
ISO
protein:increased secretion:plasma (human)
RGD
PMID:19808377
RGD:5490589
NCBI chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173
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Ucn2
urocortin 2
ISO
mRNA, protein:increased expression:myocardium (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:16330704 PMID:12076554
RGD:5508210
NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232
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Ucp1
uncoupling protein 1 (mitochondrial, proton carrier)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670611
NCBI chr 8:84,016,977...84,025,085
Ensembl chr 8:84,016,981...84,025,081
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Ucp2
uncoupling protein 2 (mitochondrial, proton carrier)
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120 PMID:20193183
RGD:7204424 , RGD:7204426
NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227
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Ucp3
uncoupling protein 3 (mitochondrial, proton carrier)
ISO
protein:decreased expression:heart, mitochondria
RGD
PMID:20809120
RGD:7204424
NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639
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Uts2
urotensin 2
severity
ISO
protein:increased expression:plasma
RGD
PMID:16364499 PMID:12791592
RGD:2306804 , RGD:1580809
NCBI chr 4:151,081,554...151,086,267
Ensembl chr 4:151,081,554...151,086,267
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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 chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732037 PMID:15880336
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Vwf
Von Willebrand factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22352330
NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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Xaf1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559
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Xdh
xanthine dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19933411
NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191
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Yy1
YY1 transcription factor
ISO
RGD
PMID:12754214
RGD:1580831
NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074
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Zeb2os
zinc finger E-box binding homeobox 2, opposite strand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36071497
NCBI chr 2:45,001,150...45,004,099
Ensembl chr 2:45,000,719...45,004,099
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Zfpm2
zinc finger protein, multitype 2
exacerbates
IDA
RGD
PMID:18658259
RGD:155882484
NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988
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Ppa2
pyrophosphatase (inorganic) 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 3:133,015,842...133,083,996
Ensembl chr 3:133,015,871...133,083,996
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Abcc8
ATP-binding cassette, sub-family C member 8
treatment
ISO
RGD
PMID:26010685
RGD:12791997
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
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Akap9
A kinase (PRKA) anchor protein (yotiao) 9
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
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Akt1
thymoma viral proto-oncogene 1
IMP
RGD
PMID:20363892
RGD:5509101
NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
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Ank2
ankyrin 2, brain
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532 PMID:28600387 PMID:36413997
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Cacna2d1
calcium channel, voltage-dependent, alpha2/delta subunit 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20817017 PMID:21383000 PMID:22840528 PMID:25527503 PMID:25741868 PMID:28492532 More...
NCBI chr 5:16,139,390...16,579,509
Ensembl chr 5:16,139,786...16,579,502
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Cacnb2
calcium channel, voltage-dependent, beta 2 subunit
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:hippocampus (rat)
RGD
PMID:19756023
RGD:4889980
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
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Cep85l
centrosomal protein 85-like
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043
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Dpp6
dipeptidylpeptidase 6
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr 5:27,022,355...27,932,498
Ensembl chr 5:27,022,201...27,932,503
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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 chr18:20,163,690...20,192,611
Ensembl chr18:20,163,690...20,192,611
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:20400443 PMID:23861362 PMID:24070718 PMID:25741868 PMID:28492532 PMID:28600387 More...
NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578
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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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
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Dynll1
dynein light chain LC8-type 1
ISO
RGD
PMID:9522364
RGD:13208524
NCBI chr 5:115,435,129...115,438,995
Ensembl chr 5:115,435,169...115,439,058
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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 chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Ephx2
epoxide hydrolase 2, cytoplasmic
IMP
RGD
PMID:17728042
RGD:5688386
NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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Gas5
growth arrest specific 5
ameliorates
ISO
RNA:increased expression:hippocampus, cortex;
RGD
PMID:30824348 PMID:30824348
RGD:155882547 , RGD:155882547
NCBI chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,992...160,866,116
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Hcn4
hyperpolarization-activated, cyclic nucleotide-gated K+ 4
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9806674
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il18
interleukin 18
ISO
RGD
PMID:18679114
RGD:4889454
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Ins2
insulin II
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17449947
NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118
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Itpr1
inositol 1,4,5-trisphosphate receptor 1
ISO
protein:increased expression:cerebellum (rat)
RGD
PMID:21859719
RGD:6480675
NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070
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Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:28492532
NCBI chr 6:142,510,563...142,517,340
Ensembl chr 6:142,510,563...142,517,340
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Kcnn2
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:33887967
NCBI chr18:45,401,754...45,818,954
Ensembl chr18:45,401,927...45,818,950
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Mir23a
microRNA 23a
ISO
RNA:decreased expression:hippocampus, cortex;
RGD
PMID:30824348
RGD:155882547
NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
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Mybpc3
myosin binding protein C, cardiac
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:14563344 PMID:15519027 PMID:16352453 PMID:20624503 PMID:22361390 PMID:23140321 PMID:23299917 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24510615 PMID:25163546 PMID:25741868 PMID:28492532 PMID:33035702 More...
NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861
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Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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Pln
phospholamban
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083
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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 chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511
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Ryr2
ryanodine receptor 2, cardiac
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Scn5a
sodium channel, voltage-gated, type V, alpha
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 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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Slmap
sarcolemma associated protein
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
NCBI chr14:26,134,323...26,256,103
Ensembl chr14:26,134,323...26,256,086
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Sod1
superoxide dismutase 1, soluble
IDA
RGD
PMID:15843790
RGD:1581221
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9806674 PMID:18679114
RGD:4889454
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
treatment
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar RGD
PMID:28492532 PMID:26010685
RGD:12791997
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Cardiac arrest
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22865611
NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540
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Ift122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660
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Ubiad1
UbiA prenyltransferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23533172
NCBI chr 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228
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Havcr1
hepatitis A virus cellular receptor 1
susceptibility
ISO
protein:increased expression:kidney tubule:
RGD
PMID:23220287 PMID:22367506
RGD:7245477 , RGD:7245950
NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405
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Mir21a
microRNA 21a
ameliorates
ISO
RGD
PMID:28760335
RGD:41410821
NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
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Myocd
myocardin
ameliorates
ISO
mRNA,protein:increased expression:left ventricle
RGD
PMID:30971740 PMID:30971740
RGD:401793740 , RGD:401793740
NCBI chr11:65,064,434...65,160,821
Ensembl chr11:65,067,387...65,160,815
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21450080
RGD:6767563
NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20669672
RGD:4143386
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Il27
interleukin 27
disease_progression
ISO
associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human)
RGD
PMID:27403033
RGD:126790503
NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20669672
RGD:4143386
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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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:19752885 PMID:14757777 PMID:19021695
RGD:40400704 , RGD:40400723 , RGD:40400906
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Adra1d
adrenergic receptor, alpha 1d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:131,387,277...131,404,417
Ensembl chr 2:131,387,770...131,404,203
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Akip1
A kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:109,302,885...109,311,393
Ensembl chr 7:109,302,897...109,311,396
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Alox15
arachidonate 15-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ankrd23
ankyrin repeat domain 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:36,569,269...36,578,380
Ensembl chr 1:36,569,269...36,575,964 Ensembl chr 1:36,569,269...36,575,964
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Apln
apelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:47,114,023...47,123,730
Ensembl chr X:47,114,023...47,123,730
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Cdc25b
cell division cycle 25B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:131,028,356...131,040,431
Ensembl chr 2:131,028,869...131,040,417
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Col4a1
collagen, type IV, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Col6a1
collagen, type VI, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002
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Col8a1
collagen, type VIII, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr16:57,444,619...57,575,100
Ensembl chr16:57,444,621...57,575,100
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Creg1
cellular repressor of E1A-stimulated genes 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 1:165,591,327...165,602,878
Ensembl chr 1:165,591,315...165,602,877
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Cyrib
CYFIP related Rac1 interactor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr15:63,800,943...63,932,627
Ensembl chr15:63,800,946...63,932,327
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Elk3
ELK3, member of ETS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:93,083,277...93,147,021
Ensembl chr10:93,083,276...93,146,997
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Epn3
epsin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:94,380,425...94,390,800
Ensembl chr11:94,380,425...94,390,800
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Fhl1
four and a half LIM domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:55,776,569...55,838,704
Ensembl chr X:55,777,147...55,838,706
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Fibin
fin bud initiation factor homolog (zebrafish)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 2:110,191,270...110,193,338
Ensembl chr 2:110,191,262...110,193,528
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Fxyd3
FXYD domain-containing ion transport regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:30,769,960...30,776,122
Ensembl chr 7:30,767,597...30,776,129
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Hamp
hepcidin antimicrobial peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
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Kank2
KN motif and ankyrin repeat domains 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040
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Klf9
Kruppel-like transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:23,118,590...23,145,493
Ensembl chr19:23,118,590...23,145,498
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Lepr
leptin receptor
treatment
ISO
DNA:mutations:cds: : (rat)
RGD
PMID:33568522
RGD:401965412
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Ms4a6c
membrane-spanning 4-domains, subfamily A, member 6C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr19:11,446,718...11,464,433
Ensembl chr19:11,446,730...11,459,556
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Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Nppa
natriuretic peptide precursor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536
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Nupr1
nuclear protein transcription regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 7:126,222,418...126,224,642
Ensembl chr 7:126,222,421...126,230,033
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Pik3ip1
phosphoinositide-3-kinase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr11:3,280,731...3,292,971
Ensembl chr11:3,280,401...3,292,971
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Plxnd1
plexin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966
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Ptp4a2
protein tyrosine phosphatase 4a2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:129,704,982...129,743,800
Ensembl chr 4:129,705,012...129,743,796
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Ptpn3
protein tyrosine phosphatase, non-receptor type 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 4:57,190,841...57,339,036
Ensembl chr 4:57,190,841...57,301,837
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Sfrp1
secreted frizzled-related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr 8:23,901,401...23,939,648
Ensembl chr 8:23,901,518...23,939,648
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Sipa1l1
signal-induced proliferation-associated 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr12:82,216,138...82,498,560
Ensembl chr12:82,216,094...82,498,560
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Trdn
triadin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr10:32,959,479...33,352,705
Ensembl chr10:32,956,550...33,352,705
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr X:7,588,212...7,594,439
Ensembl chr X:7,580,572...7,594,445
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Zfp532
zinc finger protein 532
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29556499
NCBI chr18:65,713,301...65,822,514
Ensembl chr18:65,712,983...65,822,514
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Cps1
carbamoyl-phosphate synthetase 1
susceptibility
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
ClinVar OMIM
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:24880889 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 PMID:36340787 More...
NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418
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Adora1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
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Adrb2
adrenergic receptor, beta 2
ISO
ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to
ClinVar
PMID:7706471 PMID:9399946 PMID:9399966 PMID:9522789 PMID:11739457 PMID:14557466 PMID:15500895 PMID:15867853 PMID:16596417 PMID:28492532 More...
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317
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Acadl
acyl-Coenzyme A dehydrogenase, long-chain
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:66,869,998...66,902,468
Ensembl chr 1:66,869,998...66,902,436
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Acvrl1
activin A receptor, type II-like 1
ISO
ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension
ClinVar
PMID:25741868 PMID:28492532 PMID:31727138
NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
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Adam23
a disintegrin and metallopeptidase domain 23
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,484,880...63,635,263
Ensembl chr 1:63,485,050...63,635,435
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Adora2a
adenosine A2a receptor
IAGP
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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Als2
alsin Rho guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390
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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 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186
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Bmpr2
bone morphogenetic protein receptor type 2
ISO IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD ClinVar MouseDO
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12821254 PMID:14985116 PMID:15059534 PMID:15146475 PMID:15358693 PMID:15591269 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18321866 PMID:18356561 PMID:18503968 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20096498 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:21920918 PMID:22632830 PMID:22995991 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25460361 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:26820968 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28480048 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:30957726 PMID:31727138 PMID:31797984 PMID:32368696 PMID:32581362 PMID:33066286 PMID:34400635 PMID:36675162 More...
NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173
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Carf
calcium response factor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112
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Cav1
caveolin 1, caveolae protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Ccnyl1
cyclin Y-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,729,963...64,764,805
Ensembl chr 1:64,729,614...64,764,803
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Cd28
CD28 antigen
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cdk15
cyclin dependent kinase 15
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152
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Cmklr2
chemerin chemokine-like receptor 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,221,737...63,253,714
Ensembl chr 1:63,221,850...63,253,702
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Cps1
carbamoyl-phosphate synthetase 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:67,151,294...67,270,426
Ensembl chr 1:67,162,185...67,270,418
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Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707
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Cryga
crystallin, gamma A
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,139,552...65,142,532
Ensembl chr 1:65,139,548...65,142,532
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Crygb
crystallin, gamma B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,119,381...65,121,449
Ensembl chr 1:65,119,378...65,121,447
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Crygc
crystallin, gamma C
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848
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Crygd
crystallin, gamma D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219
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D630023F18Rik
RIKEN cDNA D630023F18 gene
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,144,443...65,162,509
Ensembl chr 1:65,144,444...65,162,373
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Dytn
dystrotelin
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,662,010...63,726,086
Ensembl chr 1:63,662,010...63,726,086
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Eef1b2
eukaryotic translation elongation factor 1 beta 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,215,990...63,219,645
Ensembl chr 1:63,215,984...63,219,645
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505
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Fastkd2
FAST kinase domains 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,769,758...63,792,544
Ensembl chr 1:63,769,773...63,793,814
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Fbxo32
F-box protein 32
ISO
mRNA:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr15:58,039,275...58,078,288
Ensembl chr15:58,039,275...58,078,328
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Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29722558
RGD:155791445
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
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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 chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883
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Fzd5
frizzled class receptor 5
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,769,717...64,776,907
Ensembl chr 1:64,769,717...64,776,910
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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 chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114
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Gm13754
predicted gene 13754
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,957,040...63,973,947
Ensembl chr 1:63,957,007...63,975,091
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421
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Hdac5
histone deacetylase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22711276
NCBI chr11:102,085,244...102,120,968
Ensembl chr11:102,085,258...102,120,992
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343
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Icos
inducible T cell co-stimulator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
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Id1
inhibitor of DNA binding 1, HLH protein
ISO
protein:decreased expression:lung, wall of arteriole (human)
RGD
PMID:20522807
RGD:9686087
NCBI chr 2:152,578,171...152,579,330
Ensembl chr 2:152,578,171...152,579,330
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Ino80d
INO80 complex subunit D
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,086,960...63,153,693
Ensembl chr 1:62,997,577...63,153,849
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Kansl1l
KAT8 regulatory NSL complex subunit 1-like
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:66,758,402...66,856,754
Ensembl chr 1:66,758,407...66,856,721
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Kcnk3
potassium channel, subfamily K, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615
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Klf7
Kruppel-like transcription factor 7 (ubiquitous)
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,068,607...64,161,504
Ensembl chr 1:64,068,606...64,161,441
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Lancl1
LanC (bacterial lantibiotic synthetase component C)-like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:67,039,676...67,078,049
Ensembl chr 1:67,039,676...67,078,031
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Map2
microtubule-associated protein 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742
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Mdh1b
malate dehydrogenase 1B, NAD (soluble)
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,726,732...63,769,707
Ensembl chr 1:63,737,978...63,769,477
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Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,645,632...64,661,926
Ensembl chr 1:64,645,632...64,656,401
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Mfn1
mitofusin 1
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388
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Mfn2
mitofusin 2
ISO
protein:decreased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Mir23a
microRNA 23a
ISO
RNA:increased expression:serum
RGD
PMID:25815108
RGD:155882560
NCBI chr 8:84,935,147...84,935,221
Ensembl chr 8:84,935,147...84,935,221
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Myl1
myosin, light polypeptide 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:66,963,454...66,987,091
Ensembl chr 1:66,963,454...66,984,563
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Nbeal1
neurobeachin like 1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074
NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203
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Nrp2
neuropilin 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854
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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 chr 1:61,677,825...62,681,443
Ensembl chr 1:61,677,983...62,681,443
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Pikfyve
phosphoinositide kinase, FYVE type zinc finger containing
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,225,796...65,317,855
Ensembl chr 1:65,225,842...65,317,854
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Plekhm3
pleckstrin homology domain containing, family M, member 3
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:64,828,279...64,995,983
Ensembl chr 1:64,825,142...64,995,983
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Pparg
peroxisome proliferator activated receptor gamma
IAGP
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptgis
prostaglandin I2 (prostacyclin) synthase
ISO
DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)
RGD
PMID:32236489
RGD:401901150
NCBI chr 2:167,045,114...167,095,069
Ensembl chr 2:167,033,725...167,082,524
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Pth2r
parathyroid hormone 2 receptor
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:65,317,921...65,428,784
Ensembl chr 1:65,321,215...65,428,403
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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 chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263
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Rfc1
replication factor C (activator 1) 1
ISO
mRNA:increased expression:lung (human)
RGD
PMID:37410515
RGD:401940160
NCBI chr 5:65,419,195...65,492,988
Ensembl chr 5:65,419,193...65,493,013
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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 chr 1:66,739,957...66,758,964
Ensembl chr 1:66,739,990...66,758,964
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Ryr1
ryanodine receptor 1, skeletal muscle
ISO
protein:increased phosphorylation:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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Smad9
SMAD family member 9
ISO IAGP
CTD Direct Evidence: marker/mechanism OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
CTD MouseDO
NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678
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Sox17
SRY (sex determining region Y)-box 17
ISO
protein:decreased expression:pulmonary artery (human)
RGD
PMID:36919784
RGD:329853737
NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577
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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 chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993
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Tnfsf4
tumor necrosis factor (ligand) superfamily, member 4
IAGP
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981
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Trim63
tripartite motif-containing 63
ISO
mRNA, protein:increased expression:vastus lateralis
RGD
PMID:23972212
RGD:329812002
NCBI chr 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940
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Unc80
unc-80, NALCN activator
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:66,507,093...66,738,309
Ensembl chr 1:66,507,526...66,738,307
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Vip
vasoactive intestinal polypeptide
IAGP
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344
MouseDO
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar
PMID:28492532 PMID:31727138
NCBI chr 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735
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Acvrl1
activin A receptor, type II-like 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 chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
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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:10903931 PMID:10973254 PMID:11015450 PMID:11115378 PMID:11502704 PMID:11536076 PMID:12045205 PMID:12139571 PMID:12358323 PMID:12417513 PMID:12446270 PMID:12821254 PMID:14516151 PMID:14583445 PMID:14985116 PMID:15055271 PMID:15059534 PMID:15146475 PMID:15170098 PMID:15358693 PMID:15591269 PMID:15687131 PMID:15775752 PMID:15965979 PMID:16199547 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:17515463 PMID:17576681 PMID:18159113 PMID:18221724 PMID:18321866 PMID:18356561 PMID:18364108 PMID:18386374 PMID:18503968 PMID:18792970 PMID:19206171 PMID:19223935 PMID:19324947 PMID:19555857 PMID:19844076 PMID:20002458 PMID:20095988 PMID:20096498 PMID:20496075 PMID:20534176 PMID:21070126 PMID:21228398 PMID:21737554 PMID:21801371 PMID:22632830 PMID:22995991 PMID:23139147 PMID:23298310 PMID:23579436 PMID:23592887 PMID:23675998 PMID:24033266 PMID:24591673 PMID:24853021 PMID:24936649 PMID:25187962 PMID:25429696 PMID:25612240 PMID:25640679 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 PMID:26645265 PMID:26699722 PMID:27002414 PMID:27453251 PMID:27630060 PMID:27811071 PMID:27816994 PMID:27884767 PMID:28388887 PMID:28391780 PMID:28492532 PMID:28507310 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29843651 PMID:30029678 PMID:30578397 PMID:30679663 PMID:30809644 PMID:31727138 PMID:31797984 PMID:32581362 PMID:33066286 PMID:33380512 PMID:34400635 PMID:36675162 More...
NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173
G
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 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Gm26287
predicted gene, 26287
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 1:59,743,417...59,743,497
Ensembl chr 1:59,743,417...59,743,497
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Gm26293
predicted gene, 26293
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 1:59,731,668...59,731,751
Ensembl chr 1:59,731,668...59,731,751
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Kcna5
potassium voltage-gated channel, shaker-related subfamily, member 5
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 PMID:25741868 PMID:28492532 More...
NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375
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Kcnk3
potassium channel, subfamily K, member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23883380
NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 PMID:8116675 PMID:8304187 PMID:8533759 PMID:8831077 PMID:9634518 PMID:10234516 PMID:10598814 PMID:10693064 PMID:11180595 PMID:11385716 PMID:11461196 PMID:11524738 PMID:11588399 PMID:12409276 PMID:12649065 PMID:12655546 PMID:12655553 PMID:12765842 PMID:15503242 PMID:16601866 PMID:16755493 PMID:16879198 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:19394257 PMID:20082265 PMID:20920871 PMID:21147011 PMID:22513348 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23500595 PMID:23792259 PMID:24048906 PMID:24301756 PMID:24350308 PMID:24401910 PMID:25525159 PMID:25596310 PMID:25741868 PMID:26351554 PMID:26467025 PMID:26503515 PMID:26666653 PMID:26982749 PMID:28492532 PMID:28982351 PMID:29499199 PMID:29997390 PMID:30050108 PMID:30067850 PMID:30311390 PMID:31355225 PMID:31623983 PMID:32668217 PMID:33677757 More...
NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
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Smad1
SMAD family member 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:21898662
NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147
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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 chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678
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Snord11
small nucleolar RNA, C/D box 11
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 1:59,743,967...59,744,029
Ensembl chr 1:59,743,949...59,744,032
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Snord70
small nucleolar RNA, C/D box 70
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:23579436
NCBI chr 1:59,731,117...59,731,169
Ensembl chr 1:59,731,093...59,731,179
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Tbx4
T-box 4
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar
PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30004997 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:33066286 PMID:33971972 PMID:34557690 More...
NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923
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Smad9
SMAD family member 9
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29631995 PMID:29650961 PMID:30029678 PMID:31727138 More...
NCBI chr 3:54,662,873...54,709,162
Ensembl chr 3:54,663,003...54,708,678
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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 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186
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Cav1
caveolin 1, caveolae protein
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
OMIM ClinVar
PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138
NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
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Kcnk3
potassium channel, subfamily K, member 3
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28889099 PMID:29650961 PMID:29743074 PMID:30578397 More...
NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615
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Atp13a3
ATPase type 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 chr16:30,131,241...30,207,674
Ensembl chr16:30,131,241...30,224,793
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Capns1
calpain, small subunit 1
ISO
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6
ClinVar OMIM
PMID:21972389 PMID:38230350
NCBI chr 7:29,886,359...29,898,308
Ensembl chr 7:29,886,361...29,898,236
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Acsl3
acyl-CoA synthetase long-chain family member 3
disease_progression
ISO
RGD
PMID:22661490
RGD:13831296
NCBI chr 1:78,635,600...78,685,462
Ensembl chr 1:78,635,542...78,685,460
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Adra2b
adrenergic receptor, alpha 2b
ISO
RGD
PMID:12535806
RGD:1559314
NCBI chr 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141
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Akap9
A kinase (PRKA) anchor protein (yotiao) 9
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
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Ank2
ankyrin 2, brain
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:12571597
RGD:734572
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Apob
apolipoprotein B
ISO
RGD
PMID:17045270
RGD:1601197
NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
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Cep85l
centrosomal protein 85-like
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043
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Dpp6
dipeptidylpeptidase 6
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 5:27,022,355...27,932,498
Ensembl chr 5:27,022,201...27,932,503
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
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Gja1
gap junction protein, alpha 1
treatment
IEP
RGD
PMID:22093512
RGD:12910124
NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
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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 9:114,728,407...114,763,055
Ensembl chr 9:114,728,409...114,763,055
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Hcn4
hyperpolarization-activated, cyclic nucleotide-gated K+ 4
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:25145517 PMID:25467552 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 9:58,730,232...58,770,458
Ensembl chr 9:58,730,695...58,770,458
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Il6
interleukin 6
susceptibility
ISO
RGD
PMID:23906927
RGD:12792237
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Itgb3
integrin beta 3
ISO
associated with arteriosclerosis; DNA:polymorphism:exon
RGD
PMID:20846430
RGD:5128476
NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
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Kcnh2
potassium voltage-gated channel, subfamily H (eag-related), 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 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602
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Kcnq1
potassium voltage-gated channel, subfamily Q, member 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779
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Kcnq1ot1
KCNQ1 overlapping transcript 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr 7:142,766,848...142,850,284
Ensembl chr 7:142,731,562...142,850,286
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Kng1
kininogen 1
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828
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Kng2
kininogen 2
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:19716087
RGD:10411885
NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
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Lmna
lamin A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Family history of sudden cardiac death
CTD ClinVar
PMID:15996213 PMID:17711925 PMID:24623722 PMID:25741868 PMID:28492532
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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mt-Tt
tRNA threonine, mitochondrial
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 PMID:29760464 PMID:30236074 More...
NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
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Mybpc3
myosin binding protein C, cardiac
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20435227
NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861
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Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:25741868
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:24033266 PMID:28492532
NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 2:17,347,484...17,740,634
Ensembl chr 2:17,348,720...17,736,275
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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 chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576
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Pln
phospholamban
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:27532257 PMID:28492532 PMID:28600387 More...
NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083
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Ryr2
ryanodine receptor 2, cardiac
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:12459180 PMID:22787013 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 PMID:27054166 PMID:27646203 PMID:27930701 PMID:28404607 PMID:28492532 PMID:29350269 PMID:29477366 PMID:30615648 PMID:31913406 More...
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Scn3b
sodium channel, voltage-gated, type III, beta
ISO
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
NCBI chr 9:40,180,512...40,202,914
Ensembl chr 9:40,180,513...40,202,914
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Scn5a
sodium channel, voltage-gated, type V, alpha
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:14985827 PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19564561 PMID:19841300 PMID:19862833 PMID:20102864 PMID:20129283 PMID:22090166 PMID:22370247 PMID:22581653 PMID:22789973 PMID:22984773 PMID:23631430 PMID:23671135 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:25904541 PMID:26746457 PMID:27000522 PMID:28492532 PMID:30254039 PMID:30662450 PMID:31696929 PMID:32268277 PMID:32533187 PMID:32533946 PMID:32880476 PMID:33164571 PMID:33221895 PMID:33906374 PMID:34135346 PMID:34620408 PMID:34649698 More...
NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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Slc25a4
solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321
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Sp4
trans-acting transcription factor 4
IAGP
RGD
PMID:11007485
RGD:1580019
NCBI chr12:118,195,421...118,265,211
Ensembl chr12:118,198,668...118,265,175
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Tmem43
transmembrane protein 43
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac arrest
CTD ClinVar
PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445
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Tnni3
troponin I, cardiac 3
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
PMID:21839045 PMID:25741868
NCBI chr 7:4,521,304...4,526,228
Ensembl chr 7:4,521,304...4,527,228
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Tnnt2
troponin T2, cardiac
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sudden cardiac death
CTD ClinVar
PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 More...
NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:20562447 PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 PMID:26350513 PMID:28074886 PMID:28315637 PMID:28492532 PMID:29568272 PMID:30142439 PMID:31847883 PMID:35089333 More...
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Ttn
titin
ISO
ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death
ClinVar
PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891
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Ppa2
pyrophosphatase (inorganic) 2
ISO
ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: Sudden cardiac failure, infantile
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 PMID:30384889 PMID:31705601 PMID:33028643 PMID:33826954 PMID:34400813 More...
NCBI chr 3:133,015,842...133,083,996
Ensembl chr 3:133,015,871...133,083,996
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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 chr19:36,089,365...36,097,244
Ensembl chr19:36,089,361...36,097,499
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Bmp10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
G
Hspa1a
heat shock protein 1A
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:23564583
RGD:7257646
NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132
G
Nppb
natriuretic peptide type B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23725445 PMID:23122795
RGD:7246908 , RGD:7247627
NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:26516846 PMID:28492532 More...
NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891
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