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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dilated cardiomyopathy 1S
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Accession:DOID:0110454 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: CMD1S
 narrow_synonym: biventricular noncompaction cardiomyopathy
 related_synonym: LVNC5;   left ventricular noncompaction 5
 primary_id: MESH:C563538
 alt_id: OMIM:613426
 xref: ICD10CM:I42.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            dilated cardiomyopathy 1S 14
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  dilated cardiomyopathy 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.