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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 1A
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Accession:DOID:0110425 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: CDCD1;   CMD1A;   dilated cardiomyopathy with conduction defect 1;   dilated cardiomyopathy, LMNA;   familial dilated cardiomyopathy with conduction defect due to LMNA mutation
 primary_id: OMIM:115200
 xref: NCI:C165596;   ORDO:300751
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266, PMID:24439875, PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 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: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 ClinVar PMID:19608031, PMID:23299917, PMID:23572067, PMID:23861362, PMID:24033266, PMID:25089522, PMID:25741868, PMID:27143260, PMID:28492532, PMID:28672880 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: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:21353195, PMID:24033266, PMID:25741868, PMID:28436997, PMID:28492532, PMID:28669108 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ClinVar PMID:25741868, PMID:28492532, PMID:30311386 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: Dilated cardiomyopathy 1A ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISS OMIM:115200 MouseDO NCBI chr 7:11,786,105...11,824,742
Ensembl chr 7:11,786,105...11,824,742
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:18957847, PMID:23863954, PMID:23911551, PMID:24033266, PMID:25741868, PMID:28153106, PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:23292937, PMID:23861362, PMID:24033266, PMID:24125834, PMID:25351510, PMID:25516398, PMID:25741868, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:156,452,847...156,455,858
Ensembl chr  X:156,452,818...156,456,035
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:14662268, PMID:17097056, PMID:17235623, PMID:17438622, PMID:19377068, PMID:20852297, PMID:23299917, PMID:23785128, PMID:23861362, PMID:24033266, PMID:24647531, PMID:25041374, PMID:25163546, PMID:25351510, PMID:25616123, PMID:25617006, PMID:25741868, PMID:27896284, PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar
OMIM
PMID:1839274, PMID:2270059, PMID:2280636, PMID:2526018, PMID:8621584, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10739764, PMID:10814726, PMID:10939567, PMID:11102973, PMID:11180602, PMID:11342468, PMID:11503164, PMID:11561226, PMID:11731280, PMID:11792809, PMID:11792810, PMID:12015247, PMID:12032588, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12649505, PMID:12673789, PMID:12783988, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14675861, PMID:14684700, PMID:14749366, PMID:15053843, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15720451, PMID:15724423, PMID:15744034, PMID:15770669, PMID:15843403, PMID:15965218, PMID:15972724, PMID:15996213, PMID:15998779, PMID:16061563, PMID:16174718, PMID:16278265, PMID:16386954, PMID:16407522, PMID:16440304, PMID:16585054, PMID:16809772, PMID:16816143, PMID:16838330, PMID:16990647, PMID:17139325, PMID:17250669, PMID:17274801, PMID:17334235, PMID:17377071, PMID:18031519, PMID:18035086, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18551513, PMID:18551515, PMID:18564364, PMID:18585512, PMID:18606848, PMID:18611980, PMID:18646565, PMID:18714801, PMID:18795223, PMID:18926329, PMID:19167105, PMID:19283854, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19524666, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:19882644, PMID:20074070, PMID:20127487, PMID:20160190, PMID:20497714, PMID:20576434, PMID:20627339, PMID:20848652, PMID:20980393, PMID:21085127, PMID:21173262, PMID:21315846, PMID:21483645, PMID:21520333, PMID:21632249, PMID:21831885, PMID:21840938, PMID:21846512, PMID:21980471, PMID:22071332, PMID:22103508, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22326558, PMID:22355414, PMID:22464770, PMID:22526018, PMID:22570643, PMID:22700598, PMID:22883396, PMID:22918509, PMID:23071165, PMID:23142632, PMID:23183350, PMID:23328570, PMID:23349452, PMID:23362510, PMID:23427149, PMID:23582089, PMID:23644458, PMID:23701190, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24080738, PMID:24237251, PMID:24375749, PMID:24386194, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25025039, PMID:25163546, PMID:25214167, PMID:25448463, PMID:25525159, PMID:25637381, PMID:25741868, PMID:25873806, PMID:25948554, PMID:25987458, PMID:26084686, PMID:26183555, PMID:26332594, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26602028, PMID:26752647, PMID:27000522, PMID:27153395, PMID:27374873, PMID:27447704, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27760138, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28531892, PMID:28620495, PMID:28641778, PMID:28663758, PMID:28679633, PMID:28686329, PMID:28701371, PMID:28785654, PMID:28807990, PMID:28874324, PMID:29040816, PMID:29057633, PMID:29095976, PMID:29149195, PMID:29237675, PMID:29237690, PMID:29432544, PMID:29693488, PMID:29791652, PMID:29943882, PMID:29952368, PMID:29970176, PMID:30165862, PMID:30311386, PMID:30420677, PMID:31847799 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: Dilated cardiomyopathy 1A ClinVar PMID:11499718, PMID:11815426, PMID:12110947, PMID:12707239, PMID:12818575, PMID:12974739, PMID:15519027, PMID:16199542, PMID:16858239, PMID:17560888, PMID:20045868, PMID:20215591, PMID:20435227, PMID:20474083, PMID:22763267, PMID:22958901, PMID:23283745, PMID:23299917, PMID:23782526, PMID:23861362, PMID:24033266, PMID:24510615, PMID:24621997, PMID:24865491, PMID:25326637, PMID:25377941, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26178432, PMID:26332594, PMID:26458567, PMID:26467025, PMID:27600940, PMID:28420666, PMID:28492532, PMID:28679633 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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:24033266, PMID:25741868 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: Dilated cardiomyopathy 1A ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30105547 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266, PMID:25741868, 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: Dilated cardiomyopathy 1A ClinVar 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 1A ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
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 Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702, PMID:18508782, PMID:19716085, PMID:22581653, PMID:23631430, PMID:25741868, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266, PMID:25637381, PMID:25741868 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
JBrowse link
G Taz tafazzin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chr  X:156,421,006...156,429,461
Ensembl chr  X:156,421,009...156,428,593
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:17444505, PMID:21520333, PMID:22335739, PMID:23418287, PMID:23975875, PMID:24033266, PMID:24119082, PMID:24395473, PMID:24503780, PMID:25589632, PMID:25741868, PMID:26701604, PMID:28492532, PMID:30536954 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          Cardiomegaly 668
            dilated cardiomyopathy 298
              dilated cardiomyopathy 1A 26
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                dilated cardiomyopathy 1A 26
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.