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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:Isolated Noncompaction of the Ventricular Myocardium
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Accession:DOID:9000596 term browser browse the term
Definition:Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.
Synonyms:exact_synonym: Isolated Non-compaction of the Ventricular Myocardium;   Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked;   Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant
 primary_id: MESH:D056830;   RDO:0007762
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO RGD PMID:21221781 RGD:7775017 NCBI chr 4:124,005,287...124,030,349
Ensembl chr 4:124,005,280...124,030,349
JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 PMID:17334235 PMID:18795223 PMID:19589617 PMID:20307303 PMID:22199124 PMID:22918509 PMID:23183350 PMID:23349452 PMID:23701190 PMID:24033266 PMID:24386194 PMID:25741868 PMID:25988045 PMID:26199943 PMID:26332594 PMID:26899768 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29791652 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S
ClinVar Annotator: match by term: Left ventricular noncompaction 5
ClinVar Annotator: match by OMIM:613426
ClinVar Annotator: match by synonym: Left ventricular noncompaction 5
OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:2136805 PMID:2753225 PMID:3203908 PMID:4104682 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:7883988 PMID:7909436 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8533830 PMID:8614836 PMID:8981935 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:10900182 PMID:11106718 PMID:11113006 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12379228 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12975413 PMID:15010274 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16684601 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16983074 PMID:17097032 PMID:17125710 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:17947214 PMID:18029407 PMID:18258667 PMID:18374998 PMID:18380764 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19651039 PMID:19808347 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20086309 PMID:20350521 PMID:20359594 PMID:20474083 PMID:20513729 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20664766 PMID:20733148 PMID:20800588 PMID:20817590 PMID:20819418 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21425739 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21750094 PMID:21799269 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22859017 PMID:22918376 PMID:22949430 PMID:22958901 PMID:23054336 PMID:23197161 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23313350 PMID:23318932 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25326635 PMID:25351510 PMID:25448463 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937279 PMID:25937619 PMID:26220970 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26846766 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27066506 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27483260 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27788187 PMID:27831900 PMID:27841901 PMID:27884173 PMID:27930701 PMID:27965028 PMID:27974200 PMID:28125727 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28265379 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28704380 PMID:28771489 PMID:28790153 PMID:28798025 PMID:28807990 PMID:28855170 PMID:28878402 PMID:28973424 PMID:29121657 PMID:29178653 PMID:29212898 PMID:29300372 PMID:29447731 PMID:30297972 PMID:30511546 PMID:30674652 PMID:30775854 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myl2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 PMID:23343568 PMID:23396983 PMID:24033266 PMID:24055113 PMID:24111713 PMID:25524337 PMID:25637381 PMID:25741868 PMID:27483260 PMID:27600940 PMID:28492532 PMID:28771489 PMID:30403391 PMID:31019283 NCBI chr12:39,951,863...39,959,065
Ensembl chr12:39,951,987...39,958,239
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26383259 PMID:28492532 PMID:29253866 PMID:31028938 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:23886709 PMID:24033266 PMID:24503780 PMID:24584570 PMID:25741868 PMID:28492532 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 PMID:21832052 PMID:24033266 PMID:27604170 PMID:28492532 PMID:28530094 PMID:28798025 NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:26467025 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:27532257 PMID:28492532 NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
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:31110529 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 Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:25637381 PMID:25661095 PMID:25693453 PMID:25741868 PMID:28471438 PMID:28492532 PMID:30775854 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:25741868 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 PMID:14662268 PMID:15668942 PMID:17097056 PMID:19377068 PMID:20852297 PMID:22464770 PMID:22619057 PMID:22929165 PMID:22995991 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24033266 PMID:24647531 PMID:25163546 PMID:25326637 PMID:25351510 PMID:25617006 PMID:25741868 PMID:26419279 PMID:26467025 PMID:26636822 PMID:27561770 PMID:27896284 PMID:28349680 PMID:28492532 PMID:28798025 PMID:29032884 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:24758099 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: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:15840476 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18452873 PMID:19412328 PMID:20403459 PMID:20875080 PMID:22378279 PMID:22581653 PMID:23008441 PMID:23098067 PMID:24033266 PMID:24653702 PMID:25741868 PMID:26209461 PMID:26467025 PMID:26749013 PMID:27287068 PMID:28265756 PMID:28492532 PMID:28781330 PMID:29032884 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 Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar NCBI chr16:7,292,207...7,295,238
Ensembl chr16:7,292,096...7,295,465
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 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 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
left ventricular noncompaction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21353195 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISS OMIM:604169 MouseDO NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 PMID:26467025 PMID:27173043 PMID:27659478 PMID:28104484 PMID:28182231 PMID:28254189 PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:19318026 PMID:21846512 PMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:25741868 PMID:26404900 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:28663758 PMID:29149195 PMID:29237675 PMID:29970176 PMID:30165862 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:14563344 PMID:15519027 PMID:16061003 PMID:16352453 PMID:17560888 PMID:18533079 PMID:18929575 PMID:19666645 PMID:19808356 PMID:20019025 PMID:20031619 PMID:20045868 PMID:20624503 PMID:21511876 PMID:21939669 PMID:22115648 PMID:22361390 PMID:23140321 PMID:23283745 PMID:23299917 PMID:23396983 PMID:23674513 PMID:23711808 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24510615 PMID:25132132 PMID:25163546 PMID:25611685 PMID:25741868 PMID:25856671 PMID:26090888 PMID:26163040 PMID:27532257 PMID:27841901 PMID:28193612 PMID:28202948 PMID:28323875 PMID:28492532 PMID:28518168 PMID:28679633 PMID:29121657 PMID:29398688 PMID:29555771 PMID:29907873 PMID:30297972 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 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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 ClinVar PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 PMID:8981935 PMID:9884344 PMID:10900182 PMID:12749056 PMID:15322983 PMID:16754800 PMID:17372140 PMID:17947214 PMID:18159245 PMID:18258667 PMID:18506004 PMID:18519860 PMID:19808347 PMID:19864899 PMID:20031602 PMID:20031619 PMID:20530761 PMID:20624503 PMID:20733148 PMID:20800588 PMID:21127202 PMID:21310275 PMID:21499742 PMID:21511876 PMID:21551322 PMID:22464770 PMID:22763267 PMID:22859017 PMID:22918376 PMID:22958901 PMID:23281406 PMID:23299917 PMID:23349452 PMID:23396983 PMID:23426552 PMID:23707328 PMID:23861362 PMID:23956225 PMID:24033266 PMID:24111713 PMID:24119082 PMID:24503780 PMID:24691700 PMID:25125180 PMID:25163546 PMID:25524337 PMID:25666907 PMID:25741868 PMID:26743238 PMID:27532257 PMID:27788187 PMID:28193612 PMID:28265379 PMID:28492532 PMID:29300372 PMID:30775854 PMID:31006259 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:21636032 PMID:22214898 PMID:23299917 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:18752142 PMID:19926015 PMID:23022705 PMID:24025405 PMID:24033266 PMID:24631775 PMID:25741868 PMID:26633542 PMID:27538377 PMID:28404607 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 ClinVar PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 PMID:15851227 PMID:15992732 PMID:16061744 PMID:16453014 PMID:16453024 PMID:16731473 PMID:16922724 PMID:17185997 PMID:17275750 PMID:17892895 PMID:17967976 PMID:18362431 PMID:18378609 PMID:18452875 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19841300 PMID:20129283 PMID:20403459 PMID:20470418 PMID:20486126 PMID:21325150 PMID:21385947 PMID:21498565 PMID:21621375 PMID:22581653 PMID:22984773 PMID:23091201 PMID:23861362 PMID:24033266 PMID:24332150 PMID:24951663 PMID:25065297 PMID:25741868 PMID:25757662 PMID:25923670 PMID:26467025 PMID:28492532 PMID:29431662 PMID:30364184 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISS OMIM:604169 MouseDO NCBI chr 2:241,028,851...241,092,584
Ensembl chr 2:241,029,693...241,092,582
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 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 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:604169 MouseDO NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link
Left Ventricular Noncompaction 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar
OMIM
PMID:11238270 PMID:21520333 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29118297 PMID:29247119 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Left Ventricular Noncompaction 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 10
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM
ClinVar Annotator: match by OMIM:615396
OMIM
ClinVar
PMID:1853307 PMID:2073894 PMID:2943217 PMID:7493025 PMID:7493026 PMID:9048664 PMID:9503187 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10521296 PMID:10610770 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:12110947 PMID:12117842 PMID:12379228 PMID:12386147 PMID:12566107 PMID:12628722 PMID:12707239 PMID:12788380 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15769446 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16651346 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17536430 PMID:17560888 PMID:17908752 PMID:18273486 PMID:18374358 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18761664 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19150014 PMID:19151713 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19632136 PMID:19659763 PMID:19808356 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20045868 PMID:20159828 PMID:20173211 PMID:20201939 PMID:20215591 PMID:20298698 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20474083 PMID:20505798 PMID:20530761 PMID:20624503 PMID:20738943 PMID:20800588 PMID:21185001 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21415409 PMID:21424860 PMID:21472310 PMID:21488307 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21832025 PMID:21832052 PMID:21835320 PMID:21839045 PMID:21915287 PMID:21939669 PMID:21959974 PMID:22057632 PMID:22115648 PMID:22194935 PMID:22267749 PMID:22361390 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22563033 PMID:22569109 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:23054336 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23396983 PMID:23418287 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23690394 PMID:23711808 PMID:23782526 PMID:23785128 PMID:23840593 PMID:23861362 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24093860 PMID:24111713 PMID:24113344 PMID:24119082 PMID:24327208 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24793961 PMID:24810389 PMID:24865491 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25132132 PMID:25163546 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25447171 PMID:25524337 PMID:25543971 PMID:25558701 PMID:25569433 PMID:25583989 PMID:25611685 PMID:25631583 PMID:25637381 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25856671 PMID:25971843 PMID:26090888 PMID:26163040 PMID:26178432 PMID:26189708 PMID:26332198 PMID:26332594 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26654849 PMID:26671970 PMID:26688216 PMID:26822237 PMID:26914223 PMID:26936621 PMID:27153395 PMID:27173948 PMID:27194543 PMID:27267291 PMID:27332903 PMID:27391121 PMID:27418595 PMID:27435932 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27600940 PMID:27618852 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27834932 PMID:27841901 PMID:27896284 PMID:27930701 PMID:28024942 PMID:28074886 PMID:28138913 PMID:28166282 PMID:28193612 PMID:28202948 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28436997 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28615295 PMID:28658286 PMID:28679633 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28807990 PMID:28824454 PMID:28843747 PMID:28916354 PMID:28971120 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29247119 PMID:29367541 PMID:29398688 PMID:29540472 PMID:29555771 PMID:29661763 PMID:29710196 PMID:29875424 PMID:29907873 PMID:30206291 PMID:30446606 PMID:30645170 PMID:30731207 PMID:30762279 PMID:30871747 PMID:30924982 PMID:30972196 PMID:32009526 PMID:397516074 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
Left Ventricular Noncompaction 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 2 ClinVar NCBI chr 3:63,565,160...63,837,815 JBrowse link
Left Ventricular Noncompaction 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 7
ClinVar Annotator: match by OMIM:615092
OMIM
ClinVar
PMID:23314057 PMID:25741868 PMID:28492532 NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
JBrowse link
Left Ventricular Noncompaction 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,139,345...173,141,564 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8
ClinVar Annotator: match by OMIM:615373
OMIM
ClinVar
PMID:23768516 PMID:24033266 PMID:24140581 PMID:24387995 PMID:25741868 PMID:26350513 PMID:27535533 PMID:28492532 PMID:28798025 PMID:29367541 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 Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      congenital heart disease 1062
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction + 99
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      cardiovascular system disease 4371
        heart disease 2644
          cardiomyopathy 1061
            endocardial fibroelastosis 100
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction + 99
paths to the root