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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 1H
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Accession:DOID:0110429 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. (DO)
Synonyms:exact_synonym: CMD1H;   dilated cardiomyopathy with conduction defect
 primary_id: MESH:C536277
 alt_id: OMIM:604288;   RDO:0001793
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb3 adrenoceptor beta 3 susceptibility ISO DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) RGD PMID:20123316 RGD:5684357 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 treatment ISO DNA:SNP:promoter:-344C>T (human) RGD PMID:12031704 RGD:1576426 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:2526018, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10939567, PMID:11102973, PMID:11180602, PMID:11342468, PMID:11561226, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14607793, PMID:14675861, PMID:15060110, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15372542, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15724423, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16061563, PMID:16278265, PMID:16407522, PMID:16585054, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17377071, PMID:18031519, PMID:18035086, PMID:18256394, PMID:18414213, PMID:18478590, PMID:18549403, PMID:18551513, PMID:18564364, PMID:18585512, PMID:18606848, PMID:18611980, PMID:18646565, PMID:18795223, PMID:18926329, PMID:19167105, PMID:19283854, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:20074070, PMID:20127487, PMID:20160190, PMID:20497714, PMID:20627339, PMID:20848652, PMID:21085127, PMID:21831885, PMID:21846512, PMID:21980471, PMID:22071332, PMID:22103508, PMID:22177269, PMID:22186027, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22276265, PMID:22355414, PMID:22464770, PMID:22526018, PMID:22570643, PMID:22918509, PMID:23071165, PMID:23142632, PMID:23183350, PMID:23349452, PMID:23427149, PMID:23582089, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24375749, PMID:24503780, PMID:24623722, PMID:24721642, PMID:24846508, PMID:25025039, PMID:25214167, PMID:25448463, PMID:25637381, PMID:25741868, PMID:25873806, PMID:26084686, PMID:26332594, PMID:26404900, PMID:26467025, PMID:26498160, PMID:26602028, PMID:27000522, PMID:27153395, PMID:27374873, PMID:27447704, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27896052, PMID:27896284, PMID:27919367, PMID:28074886, PMID:28087566, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28518168, PMID:28663758, PMID:28679633, PMID:28701371, PMID:28785654, PMID:28807990, PMID:28874324, PMID:29095976, PMID:29149195, PMID:29237675, PMID:29237690, PMID:29693488, PMID:29791652, PMID:29943882, PMID:29952368, PMID:29970176, PMID:30165862, PMID:30311386, PMID:30420677 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 with conduction defect 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: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 RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human)
DNA:polymorphisms (human)
RGD PMID:15996167, PMID:15498363, PMID:10432437 RGD:5147650, RGD:5147795, RGD:5147858 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0303 (human)
DNA:polymorphisms (human)
RGD PMID:15996167, PMID:10432437 RGD:5147650, RGD:5147858 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:12056860 RGD:9681470 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Tnf tumor necrosis factor severity ISO RGD PMID:14676433 RGD:7401234 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO mRNA,protein:increased expression:heart: RGD PMID:16950785 RGD:10044019 NCBI chr  X:115,624,670...115,908,248
Ensembl chr  X:115,627,653...115,908,693
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            dilated cardiomyopathy 1H 10
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        heart disease 2666
          cardiomyopathy 1088
            intrinsic cardiomyopathy 737
              dilated cardiomyopathy 299
                dilated cardiomyopathy 1H 10
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.