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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:left ventricular noncompaction
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Accession:DOID:0060480 term browser browse the term
Definition:An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)
Synonyms:exact_synonym: left ventricular hypertrabeculation
 xref: GARD:10985;   OMIM:PS604169;   ORDO:54260
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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, PMID:30311386 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 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:1572740, PMID:8589694, PMID:11159936, PMID:11208676, PMID:16272262, PMID:17875969, PMID:18483626, PMID:18752142, PMID:19345240, PMID:19362677, PMID:19926015, PMID:22221940, PMID:23022705, PMID:24025405, PMID:24033266, PMID:24631775, PMID:25041964, PMID:25741868, PMID:26018045, PMID:26633542, PMID:27538377, PMID:28237968, PMID:28256248, 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
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: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:31333075, 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 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:28492532 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: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
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, PMID:30311386 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: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:30311386, PMID:30645170, PMID:30762279, PMID:30924982, PMID:30972196, 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 mindbomb 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 mindbomb 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:30311386, 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 16045
    Developmental Diseases 9510
      congenital heart disease 1074
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            Dilated Cardiomyopathy with Left Ventricular Noncompaction 35
            Left Ventricular Noncompaction 1 8
            Left Ventricular Noncompaction 10 1
            Left Ventricular Noncompaction 2 1
            Left Ventricular Noncompaction 7 1
            Left Ventricular Noncompaction 8 54
            Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 0
            Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 0
            dilated cardiomyopathy 1S 14
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        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
                  Left Ventricular Noncompaction 1 8
                  Left Ventricular Noncompaction 10 1
                  Left Ventricular Noncompaction 2 1
                  Left Ventricular Noncompaction 7 1
                  Left Ventricular Noncompaction 8 54
                  Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 0
                  Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 0
                  dilated cardiomyopathy 1S 14
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.