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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
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 chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO mRNA:increased expression:left ventricle: RGD PMID:19332114 RGD:10053590 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28669108 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:23292937 PMID:24033266 PMID:25351510 PMID:25741868 PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:2526018 PMID:10580070 PMID:10612827 PMID:10739751 PMID:11102973 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:23886709 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:12056860 RGD:9681470 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Tnf tumor necrosis factor severity ISO RGD PMID:14676433 RGD:7401234 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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:107,946,163...108,230,978
Ensembl chr  X:107,939,131...108,230,991
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect ClinVar PMID:21520333 PMID:23418287 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            dilated cardiomyopathy 1H 17
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      cardiovascular system disease 4517
        heart disease 2697
          cardiomyopathy 1099
            intrinsic cardiomyopathy 739
              dilated cardiomyopathy 301
                dilated cardiomyopathy 1H 17
paths to the root