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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


show annotations for term's descendants           Sort by:
Cardiac Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACACB acetyl-CoA carboxylase beta ISO mRNA, protein:increased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226 		JBrowse link
G ACE2 angiotensin converting enzyme 2 treatment ISO associated with Hypertension RGD PMID:21148624 RGD:9685434 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) RGD PMID:21802905 PMID:24630381 RGD:7245957, RGD:8696003 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AHR aryl hydrocarbon receptor treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 1:150,809,713...150,876,599
Ensembl chr 1:150,809,713...150,876,708 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding exacerbates ISO RGD PMID:25788525 RGD:153350149 NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO associated with Hypertension;mRNA:increased expression:heart
protein:increased expression:blood serum (rat)		 RGD PMID:21769867 PMID:27318893 PMID:19019833 RGD:5688337, RGD:156430318, RGD:8552780 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO protein:increased expression:blood serum (rat) RGD PMID:27318893 RGD:156430318 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO mRNA, protein:decreased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CSF3 colony stimulating factor 3 IDA associated with Myocardial Infarction; RGD PMID:18676396 RGD:11039480 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G DMD dystrophin ISO RGD PMID:25310701 RGD:12880034 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSG2 desmoglein 2 disease_progression ISO RGD PMID:21455723 RGD:401851067 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DUSP5 dual specificity phosphatase 5 ISO mRNA,protein:decreased expression:cardiac muscle tissue (rat) RGD PMID:27318893 RGD:156430318 NCBI chr10:110,497,907...110,511,533
Ensembl chr10:110,497,907...110,511,533 		JBrowse link
G EDN1 endothelin 1 treatment ISO RGD PMID:11430925 RGD:8662299 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G F3 coagulation factor III, tissue factor IMP RGD PMID:12426405 RGD:11341691 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759 		JBrowse link
G FADS1 fatty acid desaturase 1 treatment ISO RGD PMID:22796714 RGD:401901592 NCBI chr11:61,799,627...61,817,003
Ensembl chr11:61,799,627...61,829,318 		JBrowse link
G FADS2 fatty acid desaturase 2 treatment ISO RGD PMID:24284026 PMID:22796714 RGD:401901245, RGD:401901592 NCBI chr11:61,816,203...61,867,354
Ensembl chr11:61,792,980...61,867,354 		JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension;protein:increased expression:myocardium RGD PMID:15849235 RGD:1601147 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FN1 fibronectin 1 ISO mRNA, protein:increased expression:heart: RGD PMID:23383330 RGD:10402158 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide disease_progression
treatment		 ISO
IDA		 mRNA,protein:increased expression:plasma,myocardia: RGD PMID:16626506 PMID:16626506 RGD:12907503, RGD:12907503 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA,protein:increased expression,increased activity:myocardia: RGD PMID:16626506 RGD:12907503 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO protein:decreased expression:myocardium RGD PMID:23906405 RGD:8662459 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTM2 glutathione S-transferase mu 2 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:27318893 RGD:156430318 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HIRA histone cell cycle regulator disease_progression ISO RGD PMID:26935106 RGD:11354650 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HRC histidine rich calcium binding protein severity ISO associated with Heart Failure RGD PMID:22952658 RGD:9685495 NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:30563389 PMID:28455747 RGD:401700380, RGD:401700389 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO mRNA:increased expression:heart (mouse) RGD PMID:29950403 RGD:156451654 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 treatment ISO associated with obesity;protein:increased phosphorylation:heart (mouse) RGD PMID:32543140 PMID:29143862 RGD:155791675, RGD:155804300 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MFN2 mitofusin 2 ISO protein:decreased expression:heart (rat) RGD PMID:26692091 RGD:11557238 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MIR221 microRNA 221 severity IEP associated with dilated cardiomyopathy; RGD PMID:29255073 RGD:18337269 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266 		JBrowse link
G MIR222 microRNA 222 severity ISO
IEP		 associated with dilated cardiomyopathy; RGD PMID:27614440 PMID:29255073 RGD:151893489, RGD:18337269 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G MIR223 microRNA 223 treatment ISO associated with acute myocardial infarction; RGD PMID:29689569 RGD:25823140 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G MIR30E microRNA 30e treatment ISO RGD PMID:28777253 RGD:401827856 NCBI chr 1:40,754,355...40,754,446
Ensembl chr 1:40,754,355...40,754,446 		JBrowse link
G MIR433 microRNA 433 treatment ISO associated with myocardial infarction RGD PMID:27698941 PMID:27698941 RGD:14700802, RGD:14700802 NCBI chr14:100,881,886...100,881,978
Ensembl chr14:100,881,886...100,881,978 		JBrowse link
G MLYCD malonyl-CoA decarboxylase ISO protein:increased expression:heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO associated with Heart Failure RGD PMID:12875773 RGD:9685341 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Cardiomegaly;mRNA:increased expression:heart
associated with Arthritis, Experimental		 RGD PMID:23144938 PMID:23905389 RGD:13204817, RGD:13204857 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO associated with Hypertension RGD PMID:20231522 RGD:10413875 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO RGD PMID:23028889 RGD:9831166 NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784 		JBrowse link
G NONO non-POU domain containing octamer binding ISO RGD PMID:31634484 RGD:155882450 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PAK1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635 		JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ameliorates ISO compared to wild type RGD PMID:25136115 PMID:25136115 RGD:11079199, RGD:11079199 NCBI chr11:16,777,297...17,014,414
Ensembl chr11:16,777,297...17,014,415 		JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 ISO protein:decreased expression:serum, heart (rat) RGD PMID:30644033 RGD:329955369 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335 		JBrowse link
G PRKD1 protein kinase D1 treatment ISO associated with Cardiomegaly RGD PMID:25889640 RGD:290382408 NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:33236535 RGD:242905189 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO 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 chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:22796714 RGD:401901592 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO protein:increased expression:left ventricle RGD PMID:33236535 RGD:242905189 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G TGFB1 transforming growth factor beta 1 ameliorates ISO protein:increased expression:blood serum (rat)
protein:increased expression:heart:		 RGD PMID:22134166 PMID:33236535 PMID:27318893 PMID:27108788 RGD:11073617, RGD:242905189, RGD:156430318, RGD:11073667 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase treatment ISO RGD PMID:23528973 RGD:401793732 NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369 		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 IAGP ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis ClinVar
OMIM		 PMID:25741868 PMID:35397207 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Pathologic Processes 13181
        Fibrosis 1591
          Cardiac Fibrosis 57
            HEPATORENOCARDIAC DEGENERATIVE FIBROSIS 1
paths to the root