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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:Dilated Cardiomyopathy with Left Ventricular Noncompaction
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Accession:DOID:9000497 term browser browse the term
Synonyms:exact_synonym: Left ventricular noncompaction cardiomyopathy
 primary_id: MESH:C565277
 alt_id: RDO:0013960
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Dilated Cardiomyopathy with 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 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:29447731, PMID:31333075, PMID:31568572 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Alpk3 alpha-kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 1:142,882,997...142,931,940
Ensembl chr 1:142,883,040...142,931,940
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:31333075, PMID:31568572 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:27930701, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:31333075, PMID:31568572 NCBI chr  X:156,429,521...156,438,066
Ensembl chr  X:156,429,585...156,438,066
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:31333075, PMID:31568572 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:20129281, PMID:20152563, PMID:21606396, PMID:21636032, PMID:21723241, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24070718, PMID:24503780, PMID:25227139, PMID:25637381, PMID:25661095, PMID:25693453, PMID:25741868, PMID:28471438, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:30311386 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:31333075, PMID:31568572 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 9:49,920,611...49,994,906
Ensembl chr 9:49,920,854...49,950,093
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:17646576, PMID:24569893, PMID:28492532, PMID:28855170 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266, PMID:25741868, PMID:26220970, PMID:28492532, PMID:29334134 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, dilated, with left ventricular noncompaction
ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction
ClinVar PMID:14662268, PMID:15668942, PMID:17097056, PMID:19377068, PMID:20852297, PMID:22929165, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24647531, PMID:25163546, PMID:25326637, PMID:25351510, PMID:25617006, PMID:25741868, PMID:26419279, PMID:26467025, PMID:28349680, PMID:28492532, PMID:28798025, PMID:31333075, PMID:31568572 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9562578, PMID:12707239, PMID:15115610, PMID:15166115, PMID:15519027, PMID:16199542, PMID:18403758, PMID:18409188, PMID:18761664, PMID:18809796, PMID:19293840, PMID:19574547, PMID:20031618, PMID:20378854, PMID:20800588, PMID:20818890, PMID:21839045, PMID:22267749, PMID:22386539, PMID:22563033, PMID:22589294, PMID:23299917, PMID:23396983, PMID:23642604, PMID:23690394, PMID:24033266, PMID:24055113, PMID:24510615, PMID:24793961, PMID:24810389, PMID:25058872, PMID:25637381, PMID:25741868, PMID:26467025, PMID:27532257, PMID:28492532, PMID:28679633, PMID:29121657, PMID:31333075, PMID:31568572 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28491533 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:8533830, PMID:12379228, PMID:12707239, PMID:12749056, PMID:15358028, PMID:15556047, PMID:15563892, PMID:15769782, PMID:15858117, PMID:16115294, PMID:16137545, PMID:16253604, PMID:17125710, PMID:17476457, PMID:18383048, PMID:18403758, PMID:18414213, PMID:18506004, PMID:18533079, PMID:18953637, PMID:19149795, PMID:19150014, PMID:19412328, PMID:19477645, PMID:19645038, PMID:20086309, PMID:20359594, PMID:20474083, PMID:20664766, PMID:20975235, PMID:21551322, PMID:21750094, PMID:21959974, PMID:22464770, PMID:22763267, PMID:22859017, PMID:22918376, PMID:22958901, PMID:23233322, PMID:23299917, PMID:23403236, PMID:23508784, PMID:23711808, PMID:23861362, PMID:24033266, PMID:24111713, PMID:24503780, PMID:24664454, PMID:24721642, PMID:24793961, PMID:25086479, PMID:25132132, PMID:25342278, PMID:25351510, PMID:25576864, PMID:25611685, PMID:25637381, PMID:25741868, PMID:26458567, PMID:26467025, PMID:26468400, PMID:26743238, PMID:27082122, PMID:27247418, PMID:27387980, PMID:27532257, PMID:27600940, PMID:27707468, PMID:27788187, PMID:27854218, PMID:27930701, PMID:28492532, PMID:28518168, PMID:28606303, PMID:28704380, PMID:28790153, PMID:28807990, PMID:28855170, PMID:28878402, PMID:29300372, PMID:31333075, PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:31333075, PMID:31568572 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12354768, PMID:12820704, PMID:15466642, PMID:15671429, PMID:15840476, PMID:16540748, PMID:17161064, PMID:17210839, PMID:17442746, PMID:18048769, PMID:18071069, PMID:18452873, PMID:19412328, PMID:20403459, PMID:20875080, PMID:22378279, PMID:22581653, PMID:23008441, PMID:23098067, PMID:24033266, PMID:24653702, PMID:24815523, PMID:25179549, PMID:25741868, PMID:26209461, PMID:26467025, PMID:26733869, PMID:26749013, PMID:27287068, PMID:28265756, PMID:28492532, PMID:28781330, PMID:29032884, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153, PMID:19700766, PMID:20530761, PMID:24033266, PMID:24342716, PMID:25741868, PMID:25941633, PMID:26350513, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28492532 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7898523, PMID:12818575, PMID:12881443, PMID:14636924, PMID:15542288, PMID:15958377, PMID:17101185, PMID:21310275, PMID:22958901, PMID:23861362, PMID:24033266, PMID:24093860, PMID:24503780, PMID:25741868, PMID:26507537, PMID:28255936, PMID:28492532, PMID:30311386 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868, PMID:28492532, PMID:31333075, PMID:31568572 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23975875, PMID:24033266, PMID:25589632, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction ClinVar PMID:11815424, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            Dilated Cardiomyopathy with Left Ventricular Noncompaction 35
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  Dilated Cardiomyopathy with Left Ventricular Noncompaction 35
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.