Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:endocardium disease
go back to main search page
Accession:DOID:0050825 term browser browse the term
Definition:A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1LL term browser
Symbol Object Name Qualifiers 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 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,678,757...63,686,409 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 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,804,914...63,819,960 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 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		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 6:64,160,760...64,169,663 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 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		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 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		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 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		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 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		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 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		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 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		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 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
dilated cardiomyopathy 1MM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 OMIM
ClinVar		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:950554 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
dilated cardiomyopathy 1S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		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 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 OMIM
ClinVar		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		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:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		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 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name Qualifiers 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 PMID:25741868 PMID:28492532 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		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 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G C3H2orf49 chromosome 3 C2orf49 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,454,558...49,465,442
Ensembl chr 3:49,454,562...49,465,447 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:25741868 PMID:28492532 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340 		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 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
G FHL2 four and a half LIM domains 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 3:49,389,900...49,448,459
Ensembl chr 3:49,363,555...49,467,527 		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:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 NCBI chr17:46,590,302...46,665,326 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 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 chr17:35,499,828...35,513,096
Ensembl chr17:35,499,887...35,513,093 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:34540771 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		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 More... NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		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 PMID:37477868 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		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 PMID:34540771 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr15:84,226,953...84,501,320 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 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
endocardial fibroelastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Endocardial fibroelastosis ClinVar NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Endocardial fibroelastosis ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
infective endocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) RGD PMID:25213166 RGD:127229900 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650 		JBrowse link
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:10972294 PMID:25741868 NCBI chr  X:98,586,718...98,623,939
Ensembl chr  X:98,556,710...98,623,940 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:25741868 PMID:28492532 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:25741868 NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO RGD PMID:21221781 RGD:7775017 NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946 		JBrowse link
left ventricular noncompaction term browser
Symbol Object Name Qualifiers 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 chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839 		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:28254189 More... NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,987 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO OMIM:604169 MouseDO NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		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 More... NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		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 chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		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 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32492895 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		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 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		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 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 More... NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G PRDM16 PR/SET domain 16 ISO OMIM:604169 MouseDO NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		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 More... NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 ISO OMIM:604169 MouseDO NCBI chr 8:118,604,852...118,678,115
Ensembl chr 8:118,605,402...118,678,107 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		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 PMID:28798025 More... NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:22958901 PMID:24033266 PMID:25741868 PMID:33500567 PMID:34691145 More... NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		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 More... NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr15:84,226,953...84,501,320 JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:604169 MouseDO NCBI chr12:47,601,133...47,645,327
Ensembl chr12:47,600,745...47,645,301 		JBrowse link
Left Ventricular Noncompaction 1 term browser
Symbol Object Name Qualifiers 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 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:28416588 PMID:28492532 PMID:28798025 PMID:30471092 More... NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 OMIM
ClinVar		 PMID:9536098 PMID:11238270 PMID:16199547 PMID:17576681 PMID:21520333 More... NCBI chr 6:118,333,069...118,753,516
Ensembl chr 6:118,333,733...118,753,512 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:87,660,961...87,722,249
Ensembl chr14:87,644,242...87,722,251 		JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:24120998 PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 More... NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:203962 PMID:7493025 PMID:11499718 PMID:12202917 PMID:15519027 More... NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104 		JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
Left Ventricular Noncompaction 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 2 ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
Left Ventricular Noncompaction 7 term browser
Symbol Object Name Qualifiers 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 term: MIB1-related condition OMIM
ClinVar		 PMID:23314057 PMID:25741868 PMID:26188975 PMID:28492532 PMID:28530678 More... NCBI chr 6:106,917,995...107,043,144
Ensembl chr 6:106,917,718...107,040,079 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      cardiovascular system disease 4328
        heart disease 3042
          endocardium disease 103
            endocardial fibroelastosis + 102
            endocarditis + 1
            endocardium cancer 0
paths to the root