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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:endocardial fibroelastosis
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Accession:DOID:12929 term browser browse the term
Definition:An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)
Synonyms:exact_synonym: elastomyofibrosis;   endocardial fibroelastoses;   endomyocardial fibroelastosis
 primary_id: MESH:D004695
 alt_id: OMIM:226000
 xref: EFO:0007251;   GARD:2121;   GARD:6336;   ICD10CM:I42.4;   ICD9CM:425.3;   NCI:C98922
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
endocardial fibroelastosis term browser
Symbol Object Name 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:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		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:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		JBrowse link
dilated cardiomyopathy 1LL 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 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376 		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 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746 		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 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339 		JBrowse link
G C5H1orf159 chromosome 5 C1orf159 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,698,267...56,714,075 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 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491 		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 5:57,114,784...57,122,854 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 5:56,660,721...56,662,696 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 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		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 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017 		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 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544 		JBrowse link
G MIR200A microRNA mir-200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151 		JBrowse link
G MIR200B microRNA mir-200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468 		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 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783 		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 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,290,548...56,293,473 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 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403 		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 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420 		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 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460 		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 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502 		JBrowse link
dilated cardiomyopathy 1MM 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: 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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		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 PMID:29253866 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		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 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		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 chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		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 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476 		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 chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		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 chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		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 PMID:25741868 PMID:28492532 NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		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 chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr 3:54,064,963...54,119,720
Ensembl chr 3:54,084,925...54,114,583 		JBrowse link
G C10H2orf49 chromosome 10 C2orf49 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr10:38,077,162...38,089,899
Ensembl chr10:38,080,267...38,089,850 		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 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:17,364,121...19,035,836
Ensembl chr 4:17,372,245...19,017,093 		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 chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		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:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		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:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		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 7:57,981,918...58,030,197
Ensembl chr 7:57,982,825...58,077,926 		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 chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259 		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 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		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 chr10:37,997,912...38,065,633
Ensembl chr10:37,997,942...38,065,330 		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 chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:34814702 NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228 		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 chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr12:68,535,614...68,639,115
Ensembl chr12:68,535,860...68,678,762 		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 chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More...
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 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		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 chr24:21,284,309...21,297,889
Ensembl chr24:21,284,352...21,309,363 		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 chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995 		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 6:68,963,953...69,014,874
Ensembl chr 6:68,964,187...69,107,009 		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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		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 chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		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 chr28:21,971,424...22,162,798
Ensembl chr28:21,971,504...22,161,476 		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 chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		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 chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		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:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		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 chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		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 chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar NCBI chr20:37,313,983...37,317,288
Ensembl chr20:37,311,966...37,317,321 		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 1:102,475,146...102,478,319
Ensembl chr 1:102,475,146...102,478,318 		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 chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		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 chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		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 chr 4:24,404,279...24,518,977
Ensembl chr 4:24,404,319...24,518,633 		JBrowse link
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name 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:92,405,946...92,444,527
Ensembl chr  X:92,407,950...92,444,765 		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 chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium ClinVar PMID:25741868 NCBI chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO RGD PMID:21221781 RGD:7775017 NCBI chr20:5,041,656...5,139,859
Ensembl chr20:5,052,232...5,133,721 		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 chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956 		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 chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO OMIM:604169 MouseDO NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		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 chr30:36,637,492...36,656,194
Ensembl chr30:36,639,908...36,656,406 		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 chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		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 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32492895
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 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		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 chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		JBrowse link
G PRDM16 PR/SET domain 16 ISO OMIM:604169 MouseDO NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		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 chr 4:2,371,868...2,908,132
Ensembl chr 4:2,373,114...2,907,875 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 ISO OMIM:604169 MouseDO NCBI chr32:23,727,920...23,801,459
Ensembl chr32:23,729,476...23,800,941 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		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 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816 		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 chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		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 chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:604169 MouseDO NCBI chr 9:45,506,830...45,562,081
Ensembl chr 9:45,507,282...45,562,086 		JBrowse link
Left Ventricular Noncompaction 1 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 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:28416588 PMID:28492532 PMID:28798025 PMID:30471092 More... NCBI chr30:2,514,825...2,519,398
Ensembl chr30:2,514,824...2,519,382 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		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 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		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 chr18:42,271,159...42,288,782
Ensembl chr18:42,271,724...42,289,215 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:24120998 PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 More...
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603 		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 chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560 		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 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		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 term: MIB1-related condition OMIM
ClinVar		 PMID:23314057 PMID:25741868 PMID:26188975 PMID:28492532 PMID:28530678 More... NCBI chr 7:66,173,414...66,289,477
Ensembl chr 7:66,178,594...66,289,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      cardiovascular system disease 4407
        heart disease 3114
          endocardium disease 107
            endocardial fibroelastosis 106
              Endocardial Fibroelastosis and Coarctation of Abdominal Aorta 0
              Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
              Isolated Noncompaction of the Ventricular Myocardium + 106
              Ulnar Agenesis and Endocardial Fibroelastosis 0
paths to the root