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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Myocardial fibrosis
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Accession:HP:0001685 term browser browse the term
Definition:Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
Comment:Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure.
Synonyms:xref: UMLS:C0151654


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Myocardial fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G CORIN corin, serine peptidase IAGP ClinVar Annotator: match by term: Myocardial fibrosis ClinVar PMID:25741868 PMID:37913506 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G FKTN fukutin IAGP HPO MIM:253800 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G JPH2 junctophilin 2 IAGP HPO MIM:613873 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO MIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:32453731 MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYZAP myocardial zonula adherens protein IAGP HPO PMID:35840178 PMID:38436102 MIM:620894 NCBI chr15:57,591,904...57,685,364
Ensembl chr15:57,591,904...57,685,364 		JBrowse link
G PPA2 inorganic pyrophosphatase 2 IAGP HPO PMID:27523597 PMID:27523598 MIM:617222 MIM:617223 NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like IAGP HPO PMID:28069640 PMID:35924320 MIM:620519 NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349 		JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
Interstitial cardiac fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO PMID:9563954 MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G DOLK dolichol kinase IAGP HPO ORPHA:91131 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:75249 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO ORPHA:75249 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:15691357 MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO PMID:11106718 MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:75249 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP HPO PMID:32514796 MIM:619371 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO ORPHA:75249 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO ORPHA:75249 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Interstitial cardiac fibrosis ClinVar PMID:25741868 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: Interstitial cardiac fibrosis ClinVar PMID:25741868 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the cardiovascular system 15812
        Abnormal cardiovascular system morphology 8672
          Abnormal heart morphology 2355
            Abnormal myocardium morphology 1180
              Myocardial fibrosis 23
                Interstitial cardiac fibrosis 12
                Perivascular cardiac fibrosis 0
paths to the root