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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
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Accession:DOID:6000 term browser 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;   left sided 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:0003146;   ICD10CM:I50;   ICD10CM:I50.9;   ICD9CM:428;   ICD9CM:428.0;   NCI:C3080;   NCI:C50577
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
congestive heart failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ACAA1 acetyl-CoA acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 3:38,122,715...38,137,127
Ensembl chr 3:38,103,129...38,137,242
JBrowse link
G ACACA acetyl-CoA carboxylase alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
JBrowse link
G ACADS acyl-CoA dehydrogenase short chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:30827304 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
JBrowse link
G ACAN aggrecan ISO mRNA:increased expression:myocardium RGD PMID:24595230 RGD:11570548 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO
EXP
associated with Myocardial Infarction
CTD Direct Evidence: marker/mechanism
associated with Hypertension
CTD
RGD
PMID:18586661 PMID:19620082 PMID:15894569 PMID:22123369 RGD:2325224, RGD:12859272, RGD:6893472 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin converting enzyme 2 EXP
IEP
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:heart (human)
CTD
RGD
PMID:25973029 PMID:32227090 RGD:40818416 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236
JBrowse link
G ACLY ATP citrate lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr17:41,866,917...41,930,545
Ensembl chr17:41,866,917...41,930,542
JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:25741868 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 treatment ISO associated with pulmonary hypertension RGD PMID:22628376 RGD:13703064 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP
EXP
associated with cardiovascular disease; protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
RGD
PMID:19367012 PMID:26670611 PMID:22032915 PMID:18192035 RGD:5686388, RGD:5686806 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ADM adrenomedullin ISO RGD PMID:12623952 RGD:704370 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ADRA2C adrenoceptor alpha 2C IAGP
EXP
DNA:deletion: :322_325del(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of
CTD
ClinVar
RGD
PMID:12374873 PMID:17496726 PMID:12374873 RGD:1300355 NCBI chr 4:3,766,385...3,768,526
Ensembl chr 4:3,766,348...3,768,526
JBrowse link
G ADRB1 adrenoceptor beta 1 ISO
EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of
DNA:polymorphism: :p.R389G (human)
CTD
ClinVar
RGD
PMID:7586371 PMID:10212248 PMID:12374873 PMID:14502278 PMID:15816327 More... RGD:5129119, RGD:737774 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO
IAGP
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to
protein:altered localization:cardiac muscle cell
ClinVar
RGD
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19587314 PMID:20185685 RGD:5129119, RGD:4144900 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G ADRB3 adrenoceptor beta 3 IEP
EXP
ISO
protein:increased expression:left ventricle, myocardium (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:heart ventricle (rat)
CTD
RGD
PMID:15009959 PMID:17440824 PMID:11273992 PMID:21549119 RGD:5684398, RGD:5684917 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
JBrowse link
G AGER advanced glycosylation end-product specific receptor severity IEP protein:increased expression:plasma (human) RGD PMID:20685687 RGD:7244134 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen onset
severity
treatment
IAGP
EXP
IEP
ISO
DNA:polymorphisms: :p.M235T, p.T174M (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:1330361 PMID:12025466 PMID:20811386 PMID:17145981 PMID:24465706 More... RGD:1601140, RGD:11039412, RGD:8549482 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17208988 PMID:18214293 PMID:18586661 PMID:21963897 RGD:8549482 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO mRNA, protein:decreased expression:heart RGD PMID:18768398 PMID:21963897 RGD:6903846, RGD:8549482 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO RGD PMID:24812305 RGD:11251930 NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ALB albumin disease_progression IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11771600 PMID:22158777 RGD:11036096 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO RGD PMID:15623566 RGD:5509787 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 PMID:19546247 RGD:1642301, RGD:5509627 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ANKRD23 ankyrin repeat domain 23 IEP associated with Cardiomyopathy, Congestive RGD PMID:15238456 RGD:2314858 NCBI chr 2:96,837,912...96,844,021
Ensembl chr 2:96,824,526...96,857,934
JBrowse link
G AOC3 amine oxidase copper containing 3 severity IEP protein:increased expression:plasma RGD PMID:11052858 RGD:2313827 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G APCS amyloid P component, serum EXP CTD Direct Evidence: marker/mechanism CTD PMID:16129801 NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
JBrowse link
G APLN apelin ISO
IEP
protein:increased expression:ventricle myocardium
protein:decreased expression:plasma
associated with Hypertension, Pulmonary
RGD PMID:17119870 PMID:16263185 PMID:17055480 RGD:1626186, RGD:1626175, RGD:1626171 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G APOA1 apolipoprotein A1 IEP protein: decreased expression: serum RGD PMID:17517342 RGD:5508219 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOC1 apolipoprotein C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
JBrowse link
G APOE apolipoprotein E IAGP associated with Beta-Thalassemia RGD PMID:9787187 RGD:11039487 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ARRB1 arrestin beta 1 treatment ISO RGD PMID:21232674 RGD:5509888 NCBI chr11:75,260,122...75,351,661
Ensembl chr11:75,260,122...75,351,705
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18418421 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19776660 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19776660 PMID:21691940 RGD:6903963 NCBI chr12:110,281,247...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G AVP arginine vasopressin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18179782 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G AVPR2 arginine vasopressin receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12145768 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166
JBrowse link
G BAMBI BMP and activin membrane bound inhibitor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr10:28,677,521...28,682,932
Ensembl chr10:28,677,510...28,682,932
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18097624 PMID:29746994 RGD:10054097, RGD:13792577 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18097624 PMID:29746994 RGD:10054097, RGD:13792577 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BECN1 beclin 1 treatment ISO RGD PMID:18619688 RGD:11560532 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO associated with Hypertension;protein:decreased expression:cardiac muscle cell RGD PMID:16257070 RGD:2293134 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
JBrowse link
G BNIP3 BCL2 interacting protein 3 treatment ISO RGD PMID:23508759 RGD:11561982 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:25741868 PMID:28492532 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CALR calreticulin ISS MouseDO NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CASP1 caspase 1 IEP protein:increased expression:heart left ventricle RGD PMID:17303764 RGD:2315913 NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) treatment ISO associated with Hypertension
associated with myocardial infarction
RGD PMID:18787714 PMID:27346262 RGD:2311453, RGD:13782169 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29746994 RGD:13792577 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASQ2 calsequestrin 2 ISO mRNA:increased expression:sinoatrial node RGD PMID:21565973 RGD:6771208 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,714
JBrowse link
G CAT catalase IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16105639 PMID:10618301 RGD:1581151 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CBL Cbl proto-oncogene IEP protein:increased expression:left ventricle myocardium, muscle cell (human) RGD PMID:24583314 RGD:11251947 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO
EXP
mRNA:increased expression:heart left ventricle
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29959987 PMID:12950323 RGD:1581156 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17229371 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCNA2 cyclin A2 ISO RGD PMID:16820573 RGD:2293348 NCBI chr 4:121,816,444...121,823,883
Ensembl chr 4:121,816,444...121,823,883
JBrowse link
G CCNT1 cyclin T1 ISO RGD PMID:15297879 RGD:1556509 NCBI chr12:48,688,458...48,716,707
Ensembl chr12:48,688,458...48,716,998
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IAGP RGD PMID:12719858 RGD:1581177 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:serum RGD PMID:15716285 RGD:2314219 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CDK9 cyclin dependent kinase 9 IEP
ISO
protein:increased activity:ventricle:
protein:increased activity:heart:
RGD PMID:15297879 PMID:15297879 RGD:1556509, RGD:1556509 NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
JBrowse link
G CFD complement factor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IEP mRNA,protein:increased expression:cardiomyocyte: RGD PMID:11033112 RGD:11341730 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
JBrowse link
G CHEK2 checkpoint kinase 2 IEP protein:increased phosphorylation:heart myocardium RGD PMID:12702777 RGD:2289708 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:plasma (human) RGD PMID:19961288 RGD:4892629 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 ISO associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr11:46,383,789...46,391,776
Ensembl chr11:46,383,789...46,391,776
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401
JBrowse link
G CIDEA cell death inducing DFFA like effector a EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr18:12,254,361...12,277,595
Ensembl chr18:12,254,361...12,277,595
JBrowse link
G CORIN corin, serine peptidase ISO mRNA:decreased expression:left atrium, right atrium (rat)
mRNA:increased expression:heart (rat)
RGD PMID:15155264 PMID:15191894 RGD:1581218, RGD:1581217 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16360360 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 More... NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
JBrowse link
G CS citrate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8922916 NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11732872 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15585077 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISS MouseDO NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G CST3 cystatin C susceptibility IEP protein:increased expression:serum (human) RGD PMID:19539088 RGD:2314311 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression: paraventricular nucleus of hypothalamus RGD PMID:24036597 RGD:9491792 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22352330 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29959987 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ISS MouseDO NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G CYBB cytochrome b-245 beta chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO protein:increased expression:heart (rat) RGD PMID:19571523 RGD:4891162 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO protein:increased expression:heart (rat) RGD PMID:19571523 RGD:4891162 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 ISO associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
JBrowse link
G DIO3 iodothyronine deiodinase 3 ISO associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle RGD PMID:18259611 RGD:2303417 NCBI chr14:101,561,351...101,563,452
Ensembl chr14:101,560,139...101,563,452
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO protein:increased expression:atrium: RGD PMID:23573917 RGD:9588286 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
JBrowse link
G DSTN destrin, actin depolymerizing factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr20:17,570,075...17,609,919
Ensembl chr20:17,570,075...17,609,919
JBrowse link
G DYNLL1 dynein light chain LC8-type 1 ISO protein:increased expression:paraventricular nucleus RGD PMID:23832698 RGD:7257598 NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
JBrowse link
G ECE1 endothelin converting enzyme 1 IEP
ISO
mRNA,protein:increased expression:kidney:
associated with myocardial ischemia
RGD PMID:11145756 PMID:9595392 PMID:19596829 RGD:1580911, RGD:7244244, RGD:7243876 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G EDN1 endothelin 1 severity
treatment
IEP
EXP
IDA
ISO
protein:increased secretion:plasma (human)
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:heart:
CTD
RGD
PMID:7967349 PMID:7969316 PMID:9861300 PMID:11136700 PMID:11707688 More... RGD:4144845, RGD:8661798, RGD:7244167 NCBI chr 6:12,256,484...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EDNRA endothelin receptor type A EXP CTD Direct Evidence: marker/mechanism CTD PMID:28095452 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
JBrowse link
G EDNRB endothelin receptor type B EXP CTD Direct Evidence: marker/mechanism CTD PMID:28095452 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G ELOVL6 ELOVL fatty acid elongase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 4:110,045,846...110,199,202
Ensembl chr 4:110,045,846...110,199,199
JBrowse link
G ENDOG endonuclease G ISO mRNa:decreased expression:heart: RGD PMID:17292393 RGD:9685393 NCBI chr 9:128,818,500...128,822,676
Ensembl chr 9:128,818,500...128,822,676
JBrowse link
G ENG endoglin treatment ISO protein:increased expression:heart left ventricle (rat) RGD PMID:20156938 PMID:20156938 RGD:7257540, RGD:7257540 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EP300 E1A binding protein p300 IMP RGD PMID:12724418 RGD:2312280 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPHX2 epoxide hydrolase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18443590 NCBI chr 8:27,491,143...27,545,564
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G EPO erythropoietin treatment IDA associated with Myocardial Infarction RGD PMID:20139114 RGD:10401073 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:10421602 RGD:1580989 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium RGD PMID:10421602 RGD:1580989 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ESRRA estrogen related receptor alpha IEP protein:decreased expression:heart: RGD PMID:21825219 RGD:10401867 NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP DNA:deletion:introns, exon (human)
ClinVar Annotator: match by term: Congestive heart failure
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:15735644 RGD:1598455 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
JBrowse link
G FAS Fas cell surface death receptor treatment IEP
ISO
mRNA:splice variant:heart left ventricle (human) RGD PMID:9367848 PMID:29746994 RGD:8686420, RGD:13792577 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:29746994 RGD:13792577 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FBLN5 fibulin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28347583 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO associated with Shock, Septic RGD PMID:17637193 RGD:2302075 NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15623567 RGD:2293777 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO RGD PMID:15623567 RGD:2293777 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
JBrowse link
G FOXC1 forkhead box C1 IEP RGD PMID:16952980 RGD:1582564 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FOXC2 forkhead box C2 IEP RGD PMID:16952980 RGD:1582564 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
JBrowse link
G FOXO1 forkhead box O1 IEP RGD PMID:16952980 RGD:1582564 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
JBrowse link
G FOXP1 forkhead box P1 IEP RGD PMID:16952980 RGD:1582564 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G FOXP4 forkhead box P4 IEP RGD PMID:16952980 RGD:1582564 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384
JBrowse link
G FTH1 ferritin heavy chain 1 ISO protein:decreased expression:heart RGD PMID:18992754 RGD:2315110 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 ISO protein:increased serine phosphorylation:heart, membrane RGD PMID:26668322 RGD:11526267 NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109
JBrowse link
G GATM glycine amidinotransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16820567 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GCG glucagon EXP CTD Direct Evidence: therapeutic CTD PMID:7608802 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20855664 NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176
JBrowse link
G GHRL ghrelin and obestatin prepropeptide EXP CTD Direct Evidence: therapeutic CTD PMID:20572026 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GNAQ G protein subunit alpha q no_association
disease_progression
ISS
IAGP
DNA:polymorphisms:promoter:multiple
DNA:polymorphism:promoter:[-694C>T;-695G>T] (human)
MouseDO
RGD
PMID:17720980 PMID:17720980 RGD:126781754, RGD:126781754 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,994...1,106,791
JBrowse link
G GRK1 G protein-coupled receptor kinase 1 ISO RGD PMID:12456492 RGD:1600002 NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment ISO
IEP
EXP
mRNA:decreased expression:peripheral blood mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat)
CTD
RGD
PMID:26670611 PMID:11331748 PMID:26248277 PMID:29247373 PMID:9931137 RGD:737776, RGD:11535540, RGD:13506830, RGD:1625790 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G GRK3 G protein-coupled receptor kinase 3 severity IEP mRNA:decreased expression:heart left ventricle (human) RGD PMID:22685168 RGD:13506835 NCBI chr22:25,564,675...25,729,294
Ensembl chr22:25,564,675...25,729,294
JBrowse link
G GRK5 G protein-coupled receptor kinase 5 severity IEP mRNA:decreased expression:heart left ventricle (human)
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD PMID:22685168 PMID:26248277 RGD:13506835, RGD:11535540 NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
JBrowse link
G GSK3B glycogen synthase kinase 3 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17901358 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
JBrowse link
G HAMP hepcidin antimicrobial peptide IEP protein:increased expression:serum, urine RGD PMID:21080339 RGD:11041621 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:25741868 PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO
EXP
protein:increased expression:heart right ventricle (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15732037 PMID:17582388 RGD:9068910 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGB1 high mobility group box 1 treatment IEP
ISO
protein:decreased expression:heart RGD PMID:23708738 PMID:24204700 RGD:10402070, RGD:10402081 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22352330 PMID:23592614 RGD:10755584 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G HP haptoglobin treatment ISO RGD PMID:23494325 RGD:11041812 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HRH2 histamine receptor H2 susceptibility ISO RGD PMID:24655024 RGD:9685523 NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756
JBrowse link
G HSF1 heat shock transcription factor 1 ISO protein:altered localization:heart left ventricle (rat) RGD PMID:24285117 RGD:10402754 NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:17481944 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:heart left ventricle RGD PMID:16002744 RGD:1600503 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO
EXP
mRNA:increased expression:left ventricle cardiac muscle (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19023134 PMID:17936780 RGD:9698457 NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:3091246 PMID:20938210 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:12835956 RGD:1598415 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL10 interleukin 10 disease_progression
treatment
ISO mRNA, protein:decreased expression:cardiac ventricle (rat) RGD PMID:16461369 PMID:28939262 PMID:23778495 RGD:1598465, RGD:14975271, RGD:7365020 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:heart RGD PMID:19909738 PMID:19527710 RGD:2325816, RGD:4831836 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:15135663 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL6 interleukin 6 ISO
EXP
associated with Hypertension;mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)
CTD
RGD
PMID:15135663 PMID:16360360 PMID:18280594 PMID:28939262 PMID:18999900 RGD:5128682, RGD:14975271, RGD:2307285 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor ISO protein:increased expression:paraventricular hypothalamic nucleus RGD PMID:17095650 RGD:1625433 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15628829 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G ITGB1 integrin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11884376 NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
JBrowse link
G KAT8 lysine acetyltransferase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27768893 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO
IEP
associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum (rat)
mRNA:increased expression:endocardium of right ventricle:
RGD PMID:16497176 PMID:17384445 RGD:1642301, RGD:12910696 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNK2 potassium two pore domain channel subfamily K member 2 ISO associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) RGD PMID:25016242 RGD:9831185 NCBI chr 1:215,005,542...215,237,090
Ensembl chr 1:215,005,775...215,237,090
JBrowse link
G KDM2A lysine demethylase 2A ISO protein:altered localization:promoter (mouse) RGD PMID:25181347 RGD:9588275 NCBI chr11:67,119,263...67,258,082
Ensembl chr11:67,119,263...67,258,082
JBrowse link
G LEP leptin ISO RGD PMID:18006469 RGD:5128823 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G LEPR leptin receptor ISO protein:increased phosphorylation:heart RGD PMID:18006469 RGD:5128823 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:15520318 RGD:9685214 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO RGD PMID:20051627 RGD:2326058 NCBI chr22:30,240,453...30,246,759
Ensembl chr22:30,240,453...30,246,759
JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:23,404,568...23,409,443 JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21284947 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO protein:increased activity:heart: RGD PMID:17562954 RGD:10412331 NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO mRNA, protein:decreased expression:heart RGD PMID:21963897 RGD:8549482 NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447
JBrowse link
G MDH2 malate dehydrogenase 2 ISO RGD PMID:16786185 RGD:1582470 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
JBrowse link
G MED1 mediator complex subunit 1 ISS MouseDO NCBI chr17:39,404,285...39,451,263
Ensembl chr17:39,404,285...39,451,272
JBrowse link
G MIR133A2 microRNA 133a-2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
JBrowse link
G MIR145 microRNA 145 disease_progression
treatment
ISO associated with acute myocardial infarction; miRNA:decreased expression:blood plasma (rat) RGD PMID:28051023 PMID:32554856 RGD:155260283, RGD:155260293 NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
JBrowse link
G MIR21 microRNA 21 disease_progression
treatment
ISO
IEP

RNA:increased expression:left ventricular myocardium
RNA:increased expression:heart, myofibroblast:
RGD PMID:19043405 PMID:19043405 PMID:19043405 PMID:19043405 RGD:41404712, RGD:41404712, RGD:41404712, RGD:41404712 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR27A microRNA 27a ISO RNA:increased expression:heart RGD PMID:29373037 RGD:26923905 NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517
JBrowse link
G MIR28 microRNA 28 ISO RNA:increased expression:heart RGD PMID:29373037 RGD:26923905 NCBI chr 3:188,688,781...188,688,866
Ensembl chr 3:188,688,781...188,688,866
JBrowse link
G MIR34A microRNA 34a ISO RNA:increased expression:heart RGD PMID:29373037 RGD:26923905 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
JBrowse link
G MME membrane metalloendopeptidase ISO RGD PMID:12383878 RGD:13801043 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G MMP1 matrix metallopeptidase 1 IDA
ISO
RGD PMID:12892382 PMID:21866669 RGD:1582539, RGD:7207282 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP13 matrix metallopeptidase 13 disease_progression ISO protein:increased expression:left ventricle (rat)
associated with Hypertension
RGD PMID:10773235 PMID:10773234 RGD:1582587, RGD:2290467 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
JBrowse link
G MMP14 matrix metallopeptidase 14 disease_progression ISO protein:increased expression:left ventricle (rat) RGD PMID:10773235 RGD:1582587 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO
IEP
mRNA:increased expression:heart left ventricle
protein:increased expression:heart left ventricle, plasma
RGD PMID:10773234 PMID:20606426 PMID:16169329 RGD:2290467, RGD:8694112, RGD:1582574 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP3 matrix metallopeptidase 3 IEP protein:increased expression:heart left ventricle, plasma RGD PMID:20606426 RGD:8694112 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MMP8 matrix metallopeptidase 8 disease_progression ISO protein:increased expression:left ventricle (rat) RGD PMID:10773235 RGD:1582587 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO
IEP
associated with Hypertension, Pulmonary; protein:increased expression:heart
protein:increased expression:heart left ventricle, plasma
RGD PMID:17913382 PMID:20606426 PMID:11342481 PMID:16952784 RGD:5130174, RGD:8694112, RGD:7207137, RGD:1582647 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSTN myostatin ISO
EXP
mRNA, protein:increased expression:myocardium
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16968467 PMID:16968467 RGD:2303554 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
JBrowse link
G MTOR mechanistic target of rapamycin kinase IEP mRNA, protein:increased expression:heart RGD PMID:20861467 RGD:10003169 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G MTPN myotrophin ISS MouseDO NCBI chr 7:135,926,760...135,977,359
Ensembl chr 7:135,926,760...135,977,359
JBrowse link
G MYH6 myosin heavy chain 6 treatment IEP
IAGP
ISO
mRNA:decreased expression:heart left ventricle
ClinVar Annotator: match by term: Heart failure
ClinVar Annotator: match by term: Congestive heart failure
associated with Myocardial Infarction
ClinVar
RGD
PMID:20656787 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1580923, RGD:12792974 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 treatment ISO associated with Myocardial Infarction RGD PMID:18088389 RGD:12792974 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOD1 myogenic differentiation 1 treatment ISO associated with Aortic Valve Stenosis RGD PMID:20060348 RGD:9686081 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 More... NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:22286171 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO mRNA, protein:increased expression:heart RGD PMID:19853610 RGD:2325979 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:28373008 PMID:29373037 RGD:26923905 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
JBrowse link
G NGFR nerve growth factor receptor ISO associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NISCH nischarin IMP RGD PMID:12021582 RGD:1581128 NCBI chr 3:52,455,604...52,493,068
Ensembl chr 3:52,455,118...52,493,068
JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 IEP protein:increased expression:heart, left ventricle, sarcolemma (human) RGD PMID:11121795 RGD:5132888 NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:15466641 PMID:23832698 RGD:1581144, RGD:7257598 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein ISO mRNA:increased expression:brain RGD PMID:21831995 RGD:7327163 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19168511 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19168511 PMID:20304815 PMID:29351461 RGD:13504746 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NOX1 NADPH oxidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G NOX4 NADPH oxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187
JBrowse link
G NPPA natriuretic peptide A treatment
severity
IEP
EXP
ISO
mRNA,protein:increased expression:heart,plasma
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:1647690 PMID:8112904 PMID:11136700 PMID:16101196 PMID:11421854 More... RGD:1580139, RGD:7297049, RGD:7247714, RGD:1580140 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NPPB natriuretic peptide B severity IEP
EXP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetes Mellitus;protein:increased expression:plasma
mRNA,protein:increased expression:heart,plasma
CTD
RGD
PMID:11136700 PMID:11279304 PMID:12628948 PMID:15732037 PMID:15860969 More... RGD:1580140, RGD:1642196, RGD:7247316, RGD:1580139 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO
EXP
associated with Hypertension
CTD Direct Evidence: marker/mechanism
protein:decreased expression:kidney
CTD
RGD
PMID:20881240 PMID:9405681 PMID:17264312 RGD:737701, RGD:7247730 NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
JBrowse link
G NPTXR neuronal pentraxin receptor ISO associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr22:38,818,452...38,844,028
Ensembl chr22:38,818,452...38,844,028
JBrowse link
G NPY neuropeptide Y ISO RGD PMID:17804485 RGD:7175103 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 treatment ISO RGD PMID:21737535 RGD:7174712 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15722665 PMID:21321305 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
JBrowse link
G NRG1 neuregulin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:19801490 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22503866 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase ISO protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:71,533,104...71,575,892
Ensembl chr  X:71,533,087...71,575,892
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22352330 NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IEP protein:decreased expression:heart RGD PMID:19493956 RGD:7800717 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G P2RX4 purinergic receptor P2X 4 ISO associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum (rat) RGD PMID:16497176 RGD:1642301 NCBI chr12:121,210,129...121,234,106
Ensembl chr12:121,210,065...121,234,106
JBrowse link
G PAMR1 peptidase domain containing associated with muscle regeneration 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr11:35,431,827...35,530,300
Ensembl chr11:35,431,823...35,530,300
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO associated with Hypertension RGD PMID:19443425 RGD:11074236 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO protein:decreased expression:heart: RGD PMID:23647599 RGD:10448278 NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,443...149,811,420
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:28347583 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19429709 NCBI chr16:2,538,021...2,603,188
Ensembl chr16:2,537,979...2,603,188
JBrowse link
G PEBP1 phosphatidylethanolamine binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr12:118,136,124...118,145,584
Ensembl chr12:118,136,124...118,145,584
JBrowse link
G PGF placental growth factor ISO RGD PMID:19327525 RGD:6483590 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12963636 PMID:15936620 RGD:6482699 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:19240791 PMID:25741868 PMID:26257771 PMID:26467025 PMID:28492532 More... NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PLA2G7 phospholipase A2 group VII IEP RGD PMID:16952920 RGD:6482778 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: marker/mechanism CTD PMID:22352330 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PLCD1 phospholipase C delta 1 ISO RGD PMID:11181012 RGD:2300431 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
JBrowse link
G PLD2 phospholipase D2 ISO protein:increased expression:heart left ventricle RGD PMID:15601581 RGD:2299908 NCBI chr17:4,807,152...4,823,430
Ensembl chr17:4,807,152...4,823,434
JBrowse link
G PLN phospholamban treatment ISO associated with Hypertension
associated with Myocardial Infarction
RGD PMID:22970977 PMID:22947202 RGD:7327181, RGD:7327182 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:35218467 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:3026683 PMID:8277081 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G POSTN periostin treatment IEP
ISO
mRNA:increased expression:heart RGD PMID:16414453 PMID:15381649 RGD:10040951, RGD:10040999 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha onset ISO
EXP
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:heart (mouse)
CTD
RGD
PMID:19808358 PMID:22503866 PMID:23342071 PMID:23297372 RGD:7241838, RGD:7241843 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO RGD PMID:12024026 RGD:737728 NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183
JBrowse link
G PPP1CC protein phosphatase 1 catalytic subunit gamma ISO protein:increased expression:heart, membrane RGD PMID:26668322 RGD:11526267 NCBI chr12:110,708,376...110,742,891
Ensembl chr12:110,719,680...110,742,939
JBrowse link
G PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A EXP CTD Direct Evidence: therapeutic CTD PMID:20071777 NCBI chr12:54,579,246...54,588,659
Ensembl chr12:54,575,387...54,588,659
JBrowse link
G PPP2CA protein phosphatase 2 catalytic subunit alpha IEP mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:14567976 RGD:8693707 NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IDA RGD PMID:10830164 RGD:1580714 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Heart failure
ClinVar Annotator: match by term: Congestive heart failure
ClinVar PMID:21409595 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,125
JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IDA RGD PMID:10830164 RGD:1580714 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874
JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 7:107,044,705...107,161,811
Ensembl chr 7:107,044,705...107,161,811
JBrowse link
G PRKCA protein kinase C alpha ISO protein:increased expression, increased phosphorylation:heart left ventricle RGD PMID:17556659 RGD:2292480 NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
JBrowse link
G PRKCB protein kinase C beta ISO associated with hypertension RGD PMID:12392998 RGD:1625516 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18926768 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTH parathyroid hormone IEP
EXP
protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17162251 PMID:21939825 RGD:7242422 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F EXP CTD Direct Evidence: marker/mechanism CTD PMID:28751527 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
JBrowse link
G RAC1 Rac family small GTPase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO associated with Hypertension RGD PMID:12623952 RGD:704370 NCBI chr17:42,761,227...42,763,041
Ensembl chr17:42,758,447...42,763,041
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 IEP mRNA, protein:increased expression:left ventricle myocardium (human) RGD PMID:18323524 RGD:9835356 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
JBrowse link
G RBM10 RNA binding motif protein 10 ISO protein:decreased expression:heart RGD PMID:30257214 RGD:151667449 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:25741868 PMID:28492532 NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468
JBrowse link
G RBP4 retinol binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G REN renin exacerbates EXP
IEP
CTD Direct Evidence: marker/mechanism
protein:increased activity:blood plasma (human)
CTD
RGD
PMID:1647690 PMID:7034517 PMID:20811386 PMID:17526990 RGD:126908011 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G RETN resistin IEP
EXP
associated with Coronary Disease
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:26670611 PMID:22240747 RGD:7207075 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455
JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO RGD PMID:21297953 RGD:7327162 NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530
JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 2:11,179,759...11,345,437
Ensembl chr 2:11,179,759...11,348,330
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator IEP mRNA, protein:decreased expression:heart RGD PMID:18056528 RGD:2311701 NCBI chr16:66,921,685...66,925,535
Ensembl chr16:66,921,679...66,925,536
JBrowse link
G RYR2 ryanodine receptor 2 ISO
IAGP
ClinVar Annotator: match by term: Congestive heart failure ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:16483256 RGD:1599251 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO mRNA:decreased expression:ventricle myocardium RGD PMID:19584134 RGD:6484224 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO mRNA:increased expression:ventricle myocardium RGD PMID:19584134 RGD:6484224 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SELP selectin P ISO RGD PMID:19193626 RGD:2312309 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
JBrowse link
G SERPINE1 serpin family E member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22352330 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:24535859 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SIRT3 sirtuin 3 ISO protein:decreased expression:heart left ventricle RGD PMID:22155497 RGD:9586040 NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
JBrowse link
G SLC2A4 solute carrier family 2 member 4 severity IEP protein:decreased expression:skeletal muscle RGD PMID:18778861 RGD:2313624 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SLC6A4 solute carrier family 6 member 4 IAGP DNA:repeat:promoter (human) RGD PMID:17307423 RGD:4889438 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
JBrowse link
G SLC8A1 solute carrier family 8 member A1 ISO protein:increased expression:cardiac muscle cell RGD PMID:17536604 RGD:1642720 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
JBrowse link
G SLC9A1 solute carrier family 9 member A1 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19027022 PMID:18776042 RGD:6771337 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16105639 PMID:16155095 PMID:20304815 PMID:21195081 PMID:21284947 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOD3 superoxide dismutase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20304815 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
JBrowse link
G SOX4 SRY-box transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G SRF serum response factor IEP mRNA, protein:splice variant:heart RGD PMID:11893590 RGD:1581426 NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
JBrowse link
G SRI sorcin ISO protein:decreased expression:cardiac muscle cell
associated with Hypertension
RGD PMID:20945956 PMID:12754254 RGD:7327198, RGD:7327200 NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
JBrowse link
G TBX20 T-box transcription factor 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TH tyrosine hydroxylase ISO protein:increased expression:paraventricular thalamic nucleus (rat) RGD PMID:21287352 PMID:7715703 RGD:5128674, RGD:737737 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:heart left ventricle RGD PMID:10773234 RGD:2290467 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:heart left ventricle RGD PMID:10773234 RGD:2290467 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:heart left ventricle RGD PMID:10773234 RGD:2290467 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29959987 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TNF tumor necrosis factor treatment
severity
TAS
ISO
EXP
IEP
CTD Direct Evidence: marker/mechanism
associated with Myocardial Infarction;
CTD
RGD
PMID:15135663 PMID:15231041 PMID:17337591 PMID:18034274 PMID:29959987 More... RGD:1580317, RGD:14975271, RGD:1580213, RGD:7401242, RGD:7401241 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO mRNA, protein:incereased expression:myocardium RGD PMID:15883214 RGD:1624176 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16360360 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IMP human protein in rat model RGD PMID:21135513 RGD:5131262 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TNNT2 troponin T2, cardiac type EXP CTD Direct Evidence: marker/mechanism CTD PMID:12322705 PMID:17698733 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TOMM70 translocase of outer mitochondrial membrane 70 IEP
ISO
mRNA:decreased expression:heart
protein:increased serine phosphorylation:heart, mitochondrion
RGD PMID:25022898 PMID:24395194 RGD:13464131, RGD:13464132 NCBI chr 3:100,363,431...100,401,089
Ensembl chr 3:100,363,431...100,401,089
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21284947 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 treatment ISO RGD PMID:33495812 RGD:127229929 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33594499 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Congestive heart failure
ClinVar Annotator: match by term: Heart failure
ClinVar Annotator: match by term: CHF
ClinVar PMID:15802564 PMID:17344846 PMID:23396983 PMID:23486992 PMID:23861362 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: CHF
ClinVar Annotator: match by term: Heart failure
ClinVar Annotator: match by term: Congestive heart failure
ClinVar PMID:15802564 PMID:17344846 PMID:23396983 PMID:23486992 PMID:23861362 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Heart failure ClinVar PMID:1355416 PMID:1850190 PMID:1997217 PMID:2174830 PMID:2590199 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G TUBB tubulin beta class I ISO CTD Direct Evidence: marker/mechanism CTD PMID:16155095 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
JBrowse link
G UCN urocortin IEP protein:increased secretion:plasma (human) RGD PMID:19808377 RGD:5490589 NCBI chr 2:27,307,400...27,308,445
Ensembl chr 2:27,307,400...27,308,445
JBrowse link
G UCN2 urocortin 2 IEP
EXP
mRNA, protein:increased expression:myocardium (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:16330704 PMID:12076554 RGD:5508210 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
JBrowse link
G UCP1 uncoupling protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26670611 NCBI chr 4:140,559,431...140,568,961
Ensembl chr 4:140,559,431...140,568,961
JBrowse link
G UCP2 uncoupling protein 2 ISO protein:decreased expression:heart, mitochondria RGD PMID:20809120 PMID:20193183 RGD:7204424, RGD:7204426 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,672...73,982,843
JBrowse link
G UCP3 uncoupling protein 3 ISO protein:decreased expression:heart, mitochondria RGD PMID:20809120 RGD:7204424 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085
JBrowse link
G UTS2 urotensin 2 severity IEP protein:increased expression:plasma RGD PMID:16364499 PMID:12791592 RGD:2306804, RGD:1580809 NCBI chr 1:7,847,612...7,913,249
Ensembl chr 1:7,843,083...7,853,512
JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Congestive heart failure ClinVar PMID:24033266 PMID:28492532 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15732037 PMID:15880336 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VWF von Willebrand factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22352330 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G WFDC6 WAP four-disulfide core domain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16436767 NCBI chr20:45,534,196...45,539,482
Ensembl chr20:45,534,196...45,539,482
JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19933411 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G YY1 YY1 transcription factor IDA RGD PMID:12754214 RGD:1580831 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Alcohol-Induced Sudden Cardiac Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPA2 inorganic pyrophosphatase 2 IAGP ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
JBrowse link
cardiac arrest term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 treatment ISO RGD PMID:26010685 RGD:12791997 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:20363892 RGD:5509101 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:28166811 PMID:28492532 PMID:28600387 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:21383000 PMID:22840528 PMID:25527503 PMID:28492532 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,777
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:hippocampus (rat) RGD PMID:19756023 RGD:4889980 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,887,097...154,894,285
JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:18678517 PMID:23861362 PMID:24033266 PMID:24704780 PMID:25637381 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:20400443 PMID:23861362 PMID:24070718 PMID:25741868 PMID:28492532 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:21606390 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G DYNLL1 dynein light chain LC8-type 1 ISO RGD PMID:9522364 RGD:13208524 NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
JBrowse link
G EP300 E1A binding protein p300 IEP associated with Diabetes Mellitus; mRNA:increased expression:blood (human) RGD PMID:19577077 RGD:2312286 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO RGD PMID:17728042 RGD:5688386 NCBI chr 8:27,491,143...27,545,564
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:9806674 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:18679114 RGD:4889454 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:17449947 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:increased expression:cerebellum (rat) RGD PMID:21859719 RGD:6480675 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:28492532 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:14563344 PMID:15519027 PMID:16352453 PMID:20624503 PMID:22361390 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SLMAP sarcolemma associated protein IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
JBrowse link
G SOD1 superoxide dismutase 1 ISO RGD PMID:15843790 RGD:1581221 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G TNF tumor necrosis factor ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9806674 PMID:18679114 RGD:4889454 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 treatment ISO
IAGP
ClinVar Annotator: match by term: Cardiac arrest ClinVar
RGD
PMID:28492532 PMID:26010685 RGD:12791997 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Cardiac arrest ClinVar PMID:25741868 PMID:28492532 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
Cardiac Edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:22865611 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
JBrowse link
G IFT122 intraflagellar transport 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23533172 NCBI chr 1:11,273,198...11,299,574
Ensembl chr 1:11,273,198...11,296,049
JBrowse link
Cardio-Renal Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAVCR1 hepatitis A virus cellular receptor 1 susceptibility IEP
ISO
protein:increased expression:kidney tubule: RGD PMID:23220287 PMID:22367506 RGD:7245477, RGD:7245950 NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
JBrowse link
G MIR21 microRNA 21 ameliorates ISO RGD PMID:28760335 RGD:41410821 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
Cor pulmonale term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor IEP RGD PMID:21450080 RGD:6767563 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IDA RGD PMID:20669672 RGD:4143386 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G IL27 interleukin 27 disease_progression IEP associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human) RGD PMID:27403033 RGD:126790503 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum RGD PMID:20669672 RGD:4143386 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
diastolic heart failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme severity
treatment
susceptibility
IAGP
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 chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADRA1D adrenoceptor alpha 1D EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr20:4,220,630...4,249,287
Ensembl chr20:4,220,630...4,249,287
JBrowse link
G AKIP1 A-kinase interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr11:8,911,189...8,920,079
Ensembl chr11:8,911,139...8,920,084
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
JBrowse link
G ANKRD23 ankyrin repeat domain 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 2:96,837,912...96,844,021
Ensembl chr 2:96,824,526...96,857,934
JBrowse link
G APLN apelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:129,645,259...129,654,956
Ensembl chr  X:129,645,259...129,654,956
JBrowse link
G CDC25B cell division cycle 25B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G COL6A1 collagen type VI alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL8A1 collagen type VIII alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:99,638,594...99,799,217
Ensembl chr 3:99,638,475...99,799,226
JBrowse link
G CREG1 cellular repressor of E1A stimulated genes 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:167,541,013...167,553,762
Ensembl chr 1:167,529,117...167,553,805
JBrowse link
G CXCL3 C-X-C motif chemokine ligand 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
JBrowse link
G CYRIB CYFIP related Rac1 interactor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 8:129,839,593...130,017,129
Ensembl chr 8:129,839,593...130,017,504
JBrowse link
G ELK3 ETS transcription factor ELK3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr12:96,194,375...96,269,824
Ensembl chr12:96,194,375...96,269,824
JBrowse link
G EPN3 epsin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr17:50,532,735...50,543,750
Ensembl chr17:50,532,682...50,543,750
JBrowse link
G FHL1 four and a half LIM domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FIBIN fin bud initiation factor homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr11:26,994,112...26,997,087
Ensembl chr11:26,994,112...26,997,087
JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324
JBrowse link
G HAMP hepcidin antimicrobial peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
JBrowse link
G KLF9 KLF transcription factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 9:70,384,604...70,414,657
Ensembl chr 9:70,384,604...70,414,657
JBrowse link
G MS4A6A membrane spanning 4-domains A6A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr11:60,171,607...60,184,666
Ensembl chr11:60,172,015...60,184,666
JBrowse link
G MYH6 myosin heavy chain 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr16:28,532,708...28,538,974
Ensembl chr16:28,532,708...28,539,008
JBrowse link
G PIK3IP1 phosphoinositide-3-kinase interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr22:31,281,593...31,292,534
Ensembl chr22:31,281,594...31,292,534
JBrowse link
G PLXND1 plexin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G PTP4A2 protein tyrosine phosphatase 4A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 1:31,906,421...31,938,368
Ensembl chr 1:31,906,421...31,944,856
JBrowse link
G PTPN3 protein tyrosine phosphatase non-receptor type 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
JBrowse link
G SFRP1 secreted frizzled related protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 8:41,261,962...41,309,473
Ensembl chr 8:41,261,962...41,309,473
JBrowse link
G SIPA1L1 signal induced proliferation associated 1 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr14:71,320,476...71,741,209
Ensembl chr14:71,320,449...71,741,229
JBrowse link
G TRDN triadin EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,093
JBrowse link
G WDR45 WD repeat domain 45 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
JBrowse link
G ZNF532 zinc finger protein 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29556499 NCBI chr18:58,862,924...58,986,480
Ensembl chr18:58,862,600...58,986,480
JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPS1 carbamoyl-phosphate synthase 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11407344 PMID:14718356 PMID:15465784 PMID:16708072 PMID:20154341 More... NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
Paroxysmal Dyspnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA1 adenosine A1 receptor IMP RGD PMID:21388992 RGD:5129099 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to ClinVar PMID:7706471 PMID:9399946 PMID:9399966 PMID:9522789 PMID:11739457 More... NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127
JBrowse link
G ADORA2A adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension ClinVar PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP
EXP
ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated
ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More... NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G C2orf80 chromosome 2 open reading frame 80 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,165,347...208,190,030
Ensembl chr 2:208,165,343...208,190,030
JBrowse link
G CARF calcium responsive transcription factor IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCNYL1 cyclin Y like 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,711,640...207,756,174
Ensembl chr 2:207,711,540...207,761,839
JBrowse link
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,706,465...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CDK15 cyclin dependent kinase 15 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550
JBrowse link
G CMKLR2 chemerin chemokine-like receptor 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,175,316...206,217,912
Ensembl chr 2:206,175,316...206,218,047
JBrowse link
G CPO carboxypeptidase O IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,939,518...206,969,474
Ensembl chr 2:206,939,518...206,969,474
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G CREB1 cAMP responsive element binding protein 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CRYGA crystallin gamma A IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589
JBrowse link
G CRYGB crystallin gamma B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158
JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
JBrowse link
G CRYGD crystallin gamma D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026
JBrowse link
G DYTN dystrotelin IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,651,621...206,718,396
Ensembl chr 2:206,651,621...206,721,570
JBrowse link
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928
JBrowse link
G FAM117B family with sequence similarity 117 member B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757
JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189
JBrowse link
G FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More... NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
G FZD5 frizzled class receptor 5 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906
JBrowse link
G FZD7 frizzled class receptor 7 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441
JBrowse link
G HDAC1 histone deacetylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
JBrowse link
G HDAC4 histone deacetylase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC5 histone deacetylase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr17:44,076,753...44,123,641
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G ICA1L islet cell autoantigen 1 like IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766
JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G ID1 inhibitor of DNA binding 1 IEP protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr20:31,605,289...31,606,510
Ensembl chr20:31,605,283...31,606,515
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G INO80D INO80 complex subunit D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303
JBrowse link
G KANSL1L KAT8 regulatory NSL complex subunit 1 like IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,021,421...210,172,760
Ensembl chr 2:210,021,421...210,171,409
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
JBrowse link
G KLF7 KLF transcription factor 7 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,074,137...207,173,851
Ensembl chr 2:207,074,137...207,167,267
JBrowse link
G LANCL1 LanC like glutathione S-transferase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,431,251...210,477,584
Ensembl chr 2:210,431,249...210,477,652
JBrowse link
G MAP2 microtubule associated protein 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MDH1B malate dehydrogenase 1B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,737,763...206,765,328
Ensembl chr 2:206,737,763...206,765,328
JBrowse link
G METTL21A methyltransferase 21A, HSPA lysine IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928
JBrowse link
G MYL1 myosin light chain 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174
JBrowse link
G NBEAL1 neurobeachin like 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
JBrowse link
G NRP2 neuropilin 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,682,501...205,798,131
Ensembl chr 2:205,681,990...205,798,133
JBrowse link
G PARD3B par-3 family cell polarity regulator beta IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:204,545,475...205,620,162
Ensembl chr 2:204,545,475...205,620,162
JBrowse link
G PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,266,056...208,358,746
Ensembl chr 2:208,266,255...208,358,746
JBrowse link
G PLEKHM3 pleckstrin homology domain containing M3 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,821,288...208,025,527
Ensembl chr 2:207,821,288...208,025,527
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PTH2R parathyroid hormone 2 receptor IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,359,692...208,494,506
Ensembl chr 2:208,359,714...208,854,503
JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335
JBrowse link
G RPE ribulose-5-phosphate-3-epimerase IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,002,638...210,022,260
Ensembl chr 2:210,002,565...210,022,260
JBrowse link
G SMAD9 SMAD family member 9 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,765
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TNFSF4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G VIP vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
G WDR12 WD repeat domain 12 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798
JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427
JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar Annotator: match by term: Primary pulmonary hypertension 1
ClinVar PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 PMID:15880681 More... NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 ClinVar PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 PMID:26167679 More... NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Primary pulmonary hypertension 1
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
OMIM
PMID:3291115 PMID:10903931 PMID:10973254 PMID:11015450 PMID:11115378 More... NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 PMID:25741868 More... NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More... NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23883380 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661
JBrowse link
G SMAD1 SMAD family member 1 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
JBrowse link
G SMAD1-AS1 SMAD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:26387786 NCBI chr 4:145,514,578...145,517,194
Ensembl chr 4:145,514,615...145,517,118
JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:26387786 More... NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,765
JBrowse link
G SNORD11 small nucleolar RNA, C/D box 11 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 2:202,293,051...202,293,134
Ensembl chr 2:202,293,051...202,293,134
JBrowse link
G SNORD11B small nucleolar RNA, C/D box 11B IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 2:202,291,317...202,291,428
Ensembl chr 2:202,291,332...202,291,421
JBrowse link
G SNORD70 small nucleolar RNA, C/D box 70 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 2:202,276,431...202,276,518
Ensembl chr 2:202,276,431...202,276,518
JBrowse link
G SNORD70B small nucleolar RNA, C/D box 70B IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 ClinVar PMID:23579436 PMID:26387786 NCBI chr 2:202,278,113...202,278,187
Ensembl chr 2:202,278,108...202,278,192
JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1
ClinVar Annotator: match by term: Primary pulmonary hypertension 1
ClinVar PMID:15106123 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 More... NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
JBrowse link
Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 2
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2
ClinVar
OMIM
PMID:16199547 PMID:19211612 PMID:19419974 PMID:21898662 PMID:21920918 More... NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,765
JBrowse link
Primary Pulmonary Hypertension, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G CAV1 caveolin 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3
ClinVar
OMIM
PMID:22474227 PMID:25741868 PMID:26387786 PMID:28492532 PMID:31727138 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
Primary Pulmonary Hypertension, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension 4
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4
ClinVar
OMIM
PMID:23883380 PMID:24033266 PMID:25741868 PMID:26387786 PMID:28492532 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
JBrowse link
Primary Pulmonary Hypertension, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A3 ATPase 13A3 IAGP ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868 PMID:34493544 NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
JBrowse link
Sudden Cardiac Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL3 acyl-CoA synthetase long chain family member 3 disease_progression IAGP RGD PMID:22661490 RGD:13831296 NCBI chr 2:222,861,036...222,944,639
Ensembl chr 2:222,860,942...222,944,639
JBrowse link
G ADRA2B adrenoceptor alpha 2B IAGP RGD PMID:12535806 RGD:1559314 NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:12571597 RGD:734572 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G APOB apolipoprotein B IEP RGD PMID:17045270 RGD:1601197 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,887,097...154,894,285
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO RGD PMID:22093512 RGD:12910124 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:23861362 PMID:27930701 PMID:28166811 PMID:28492532 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:21615589 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G IL6 interleukin 6 susceptibility IEP RGD PMID:23906927 RGD:12792237 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP associated with arteriosclerosis; DNA:polymorphism:exon RGD PMID:20846430 RGD:5128476 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar PMID:18508782 PMID:19716085 PMID:22581653 PMID:25417810 PMID:25741868 More... NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G KNG1 kininogen 1 susceptibility IAGP DNA:SNPs: : RGD PMID:19716087 RGD:10411885 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G LMNA lamin A/C EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Family history of sudden cardiac death
CTD
ClinVar
PMID:15996213 PMID:17711925 PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:16712702 PMID:19841300 PMID:22581653 PMID:24033266 PMID:24055113 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 More... NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G MYBPC3 myosin binding protein C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20435227 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:24033266 PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,777
JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar PMID:12639993 PMID:16235537 PMID:17655857 PMID:21167350 PMID:21332051 More... NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
JBrowse link
G RYR2 ryanodine receptor 2 IAGP
EXP
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23861362 PMID:24033266 PMID:25650408 PMID:25741868 PMID:26656175 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Sudden cardiac death ClinVar NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar PMID:15851227 PMID:16712702 PMID:18378609 PMID:18508782 PMID:19564561 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Family history of sudden cardiac death ClinVar PMID:25741868 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SP4 Sp4 transcription factor ISO RGD PMID:11007485 RGD:1580019 NCBI chr 7:21,428,083...21,514,822
Ensembl chr 7:21,428,043...21,514,822
JBrowse link
G TMEM43 transmembrane protein 43 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac arrest
CTD
ClinVar
PMID:20435227 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:21839045 PMID:25741868 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
JBrowse link
G TNNT2 troponin T2, cardiac type EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden cardiac death
CTD
ClinVar
PMID:17556660 PMID:23233322 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Sudden cardiac death
ClinVar Annotator: match by term: Family history of sudden cardiac death
ClinVar PMID:21887725 PMID:23382873 PMID:24019741 PMID:25416190 PMID:25741868 More... NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Sudden cardiac arrest
ClinVar Annotator: match by term: Sudden cardiac death
ClinVar PMID:19608031 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden cardiac arrest ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
Sudden Cardiac Failure, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPA2 inorganic pyrophosphatase 2 IAGP ClinVar Annotator: match by term: Sudden cardiac failure, infantile ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27523597 PMID:27523598 PMID:28492532 More... NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
JBrowse link
systolic heart failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Heart failure, systolic ClinVar PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G BMP10 bone morphogenetic protein 10 EXP CTD Direct Evidence: therapeutic CTD PMID:31712309 NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Systolic heart failure ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A disease_progression IEP protein:increased expression:serum: RGD PMID:23564583 RGD:7257646 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G NPPB natriuretic peptide B IEP
IDA
associated with Renal Insufficiency;protein:increased expression:plasma: RGD PMID:23725445 PMID:23122795 RGD:7246908, RGD:7247627 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Heart failure, systolic ClinVar PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      cardiovascular system disease 4548
        heart disease 3254
          congestive heart failure 454
            Cardiac Edema 3
            Cardio-Renal Syndrome 2
            Cor pulmonale + 81
            Paroxysmal Dyspnea 2
            cardiac arrest + 62
            diastolic heart failure 35
            rheumatic congestive heart failure 0
            systolic heart failure 6
paths to the root