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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:Abnormal cardiac test
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Accession:HP:0500015 term browser browse the term
Definition:Abnormal test result of cardiovascular physiology.


show annotations for term's descendants           Sort by:
Abnormal cardiac test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP associated with Hypertension, Essential;DNA:deletion:intron:IVS16+1464-1751del RGD PMID:17625392 RGD:8142350 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G CDK8 cyclin dependent kinase 8 susceptibility IAGP DNA:SNP:intron: (rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human) RGD PMID:29029143 RGD:126925989 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
Abnormal cardiac biomarker test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP9 matrix metallopeptidase 9 susceptibility IAGP DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) RGD PMID:17893005 RGD:7207049 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Kidney Failure, Chronic;DNA:transition:cds:g.677C>T (rs1801133) RGD PMID:19272686 RGD:6893548 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
Abnormal cardiac exercise stress test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 IAGP HPO ORPHA:101016 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 HPO ORPHA:101016 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO ORPHA:101016 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CALM1 calmodulin 1 IAGP HPO ORPHA:101016 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268 		JBrowse link
G CALM2 calmodulin 2 IAGP HPO ORPHA:101016 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921 		JBrowse link
G CALM3 calmodulin 3 IAGP HPO ORPHA:101016 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782 		JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:101016 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO ORPHA:101016 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO ORPHA:101016 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO ORPHA:101016 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:101016 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO ORPHA:101016 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO ORPHA:101016 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:101016 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO ORPHA:101016 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:101016 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP HPO ORPHA:101016 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:101016 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TRDN triadin IAGP HPO ORPHA:101016 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189 		JBrowse link
Increased circulating troponin I concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 IAGP HPO PMID:16505173 MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G SVIL supervillin IAGP HPO PMID:32779703 MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
Increased circulating troponin T concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IAGP HPO PMID:36745799 MIM:620375 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 IAGP DNA:SNP:intron: (rs6080699) RGD PMID:20036365 RGD:6483554 NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO PMID:33727065 MIM:620796 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the cardiovascular system 15816
        Abnormal cardiac test 31
          Abnormal cardiac MRI 0
          Abnormal cardiac biomarker test + 10
          Abnormal cardiac catheterization 0
          Abnormal cardiac exercise stress test 19
          Abnormal resting energy expenditure from metabolic cart test 0
paths to the root