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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 morphology of myocardial trabeculae
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Accession:HP:0030681 term browser browse the term
Definition:Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
Synonyms:xref: UMLS:C4073289


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Abnormal morphology of right ventricular trabeculae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin IAGP HPO MIM:601214 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
Left ventricular noncompaction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction HPO
ClinVar		 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 More... MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO MIM:612158 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21353195 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28254189 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G CALM2 calmodulin 2 IAGP HPO MIM:616249 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921 		JBrowse link
G COA6 cytochrome c oxidase assembly factor 6 IAGP HPO MIM:616501 NCBI chr 1:234,373,456...234,385,080
Ensembl chr 1:234,373,456...234,385,080 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DTNA dystrobrevin alpha IAGP HPO MIM:604169 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar
HPO		 PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More... MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO MIM:601493 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutation:cds:p.R644C (human)
ClinVar Annotator: match by term: Left ventricular noncompaction		 ClinVar
RGD		 PMID:19318026 PMID:21846512 PMID:22224630 PMID:22266370 PMID:22464770 More... RGD:11058532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 IAGP HPO MIM:615092 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar
HPO		 PMID:25741868 PMID:27799064 PMID:28492532 PMID:34620555 MIM:617228 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar
HPO		 PMID:14563344 PMID:15519027 PMID:16061003 PMID:16352453 PMID:17560888 More... MIM:615396 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: Left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32492895 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: Left ventricular noncompaction ClinVar
HPO		 PMID:1430834 PMID:12749056 PMID:16199547 PMID:16754800 PMID:17947214 More... MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		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 PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21636032 PMID:22214898 PMID:23299917 PMID:24033266 PMID:25741868 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO MIM:615373 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:18752142 PMID:19926015 PMID:23022705 PMID:24025405 PMID:24033266 More... 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 HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:252011 MIM:613642 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar
HPO		 PMID:22958901 PMID:24033266 PMID:25741868 PMID:33500567 PMID:34691145 More... MIM:601494 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 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: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615917 NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the cardiovascular system 14368
        Abnormal cardiovascular system morphology 7916
          Abnormal heart morphology 2118
            Abnormal myocardium morphology 1016
              Abnormal morphology of myocardial trabeculae 34
                Abnormal morphology of left ventricular trabeculae + 34
                Abnormal morphology of right ventricular trabeculae 1
paths to the root