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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:Cardiac Fibrosis
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Accession:DOID:9003139 term browser browse the term
Definition:A pathological condition where fibrous connective tissue invades the heart, usually as a consequence of inflammation or other injury.
Synonyms:exact_synonym: heart fibrosis
 related_synonym: atrial fibrosis;   myocardial fibrosis



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Cardiac Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta IEP mRNA, protein:increased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
JBrowse link
G Ace2 angiotensin converting enzyme 2 treatment IEP associated with Hypertension RGD PMID:21148624 RGD:9685434 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) RGD PMID:21802905 PMID:24630381 RGD:7245957, RGD:8696003 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Ahr aryl hydrocarbon receptor treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding exacerbates ISO RGD PMID:25788525 RGD:153350149 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP
IDA
associated with Hypertension;mRNA:increased expression:heart
protein:increased expression:blood serum (rat)
RGD PMID:21769867 PMID:19019833 PMID:27318893 RGD:5688337, RGD:8552780, RGD:156430318 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP protein:increased expression:blood serum (rat) RGD PMID:27318893 RGD:156430318 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A IEP mRNA, protein:decreased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Csf3 colony stimulating factor 3 ISO associated with Myocardial Infarction; RGD PMID:18676396 RGD:11039480 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Dmd dystrophin IMP RGD PMID:25310701 RGD:12880034 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:21455723 RGD:401851067 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dusp5 dual specificity phosphatase 5 IEP mRNA,protein:decreased expression:cardiac muscle tissue (rat) RGD PMID:27318893 RGD:156430318 NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
JBrowse link
G Edn1 endothelin 1 treatment IDA RGD PMID:11430925 RGD:8662299 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:12426405 RGD:11341691 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fads1 fatty acid desaturase 1 treatment IEP RGD PMID:22796714 RGD:401901592 NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734
JBrowse link
G Fads2 fatty acid desaturase 2 treatment IMP
IEP
RGD PMID:24284026 PMID:22796714 RGD:401901245, RGD:401901592 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789
JBrowse link
G Fbn1 fibrillin 1 IEP associated with Hypertension;protein:increased expression:myocardium RGD PMID:15849235 RGD:1601147 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fn1 fibronectin 1 IEP mRNA, protein:increased expression:heart: RGD PMID:23383330 RGD:10402158 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide disease_progression
treatment
IEP
ISO
mRNA,protein:increased expression:plasma,myocardia: RGD PMID:16626506 PMID:16626506 RGD:12907503, RGD:12907503 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA,protein:increased expression,increased activity:myocardia: RGD PMID:16626506 RGD:12907503 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP protein:decreased expression:myocardium RGD PMID:23906405 RGD:8662459 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gpx3 glutathione peroxidase 3 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstm2 glutathione S-transferase mu 2 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
JBrowse link
G Gstm3 glutathione S-transferase mu 3 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
JBrowse link
G H19 H19 imprinted maternally expressed transcript IEP mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:27318893 RGD:156430318 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hira histone cell cycle regulator disease_progression ISO RGD PMID:26935106 RGD:11354650 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Hrc histidine rich calcium binding protein severity ISO associated with Heart Failure RGD PMID:22952658 RGD:9685495 NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates IMP
ISO
RGD PMID:30563389 PMID:28455747 RGD:401700380, RGD:401700389 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO mRNA:increased expression:heart (mouse) RGD PMID:29950403 RGD:156451654 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 treatment IEP
ISO
associated with obesity;protein:increased phosphorylation:heart (mouse) RGD PMID:32543140 PMID:29143862 RGD:155791675, RGD:155804300 NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
JBrowse link
G Mfn2 mitofusin 2 IEP protein:decreased expression:heart (rat) RGD PMID:26692091 RGD:11557238 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir221 microRNA 221 severity ISO associated with dilated cardiomyopathy; RGD PMID:29255073 RGD:18337269 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 severity ISO associated with dilated cardiomyopathy; RGD PMID:27614440 PMID:29255073 RGD:151893489, RGD:18337269 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir223 microRNA 223 treatment IMP associated with acute myocardial infarction; RGD PMID:29689569 RGD:25823140 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir30e microRNA 30e treatment IEP RGD PMID:28777253 RGD:401827856 NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
JBrowse link
G Mir433 microRNA 433 treatment ISO associated with myocardial infarction RGD PMID:27698941 PMID:27698941 RGD:14700802, RGD:14700802 NCBI chr 6:128,545,119...128,545,211
Ensembl chr 6:128,545,112...128,545,217
JBrowse link
G Mlycd malonyl-CoA decarboxylase IEP protein:increased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP associated with Heart Failure RGD PMID:12875773 RGD:9685341 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP
associated with Cardiomegaly;mRNA:increased expression:heart
associated with Arthritis, Experimental
RGD PMID:23144938 PMID:23905389 RGD:13204817, RGD:13204857 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IEP associated with Hypertension RGD PMID:20231522 RGD:10413875 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO RGD PMID:23028889 RGD:9831166 NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO RGD PMID:31634484 RGD:155882450 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ameliorates IMP compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
JBrowse link
G Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin ameliorates IMP compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 IEP protein:decreased expression:serum, heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkd1 protein kinase D1 treatment ISO associated with Cardiomegaly RGD PMID:25889640 RGD:290382408 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:33236535 RGD:242905189 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Serpine1 serpin family E member 1 treatment IEP
IDA
associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat)
associated with Metabolic Syndrome X
RGD PMID:11961044 PMID:15604340 RGD:8547914, RGD:8547923 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Slc22a5 solute carrier family 22 member 5 treatment IEP RGD PMID:22796714 RGD:401901592 NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
JBrowse link
G Slit2 slit guidance ligand 2 ISO protein:increased expression:left ventricle RGD PMID:33236535 RGD:242905189 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ameliorates ISO
IEP
protein:increased expression:heart:
protein:increased expression:blood serum (rat)
RGD PMID:22134166 PMID:27108788 PMID:27318893 PMID:33236535 RGD:11073617, RGD:11073667, RGD:156430318, RGD:242905189 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase treatment IEP RGD PMID:23528973 RGD:401793732 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
JBrowse link
HEPATORENOCARDIAC DEGENERATIVE FIBROSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis OMIM
ClinVar
PMID:25741868 PMID:35397207 NCBI chr 4:161,590,478...161,632,244
Ensembl chr 4:161,590,479...161,632,149
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Fibrosis 1604
          Cardiac Fibrosis 64
            HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
paths to the root