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 1O
Accession: DOID:0110451
browse the term
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)
Synonyms: exact_synonym: CMD1O; dilated cardiomyopathy with ventricular tachycardia
primary_id: MESH:C563906
alt_id: OMIM:608569
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc9
ATP binding cassette subfamily C member 9
ISO
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
OMIM ClinVar
PMID:9536098 PMID:12166651 PMID:15034580 PMID:16199547 PMID:16563363 PMID:16835932 PMID:17245405 PMID:17576681 PMID:18239147 PMID:20474083 PMID:20890277 PMID:21344641 PMID:21846889 PMID:22608503 PMID:22610116 PMID:23103869 PMID:23307537 PMID:23739550 PMID:23861362 PMID:24033266 PMID:24439875 PMID:24503780 PMID:25326635 PMID:25333069 PMID:25341504 PMID:25590979 PMID:25741868 PMID:25979592 PMID:26636822 PMID:26656175 PMID:26764160 PMID:26871653 PMID:27101133 PMID:27247394 PMID:27316244 PMID:27532257 PMID:27707468 PMID:28087566 PMID:28166811 PMID:28492532 PMID:29016939 PMID:29030401 PMID:30177324 PMID:30269836 PMID:30662066 PMID:30662450 PMID:30821013 PMID:30847666 PMID:30878466 PMID:31130284 PMID:31575858 PMID:31828977 PMID:31983221 PMID:32622958 PMID:32746448 More...
NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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Golt1b
golgi transport 1B
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,333,056...175,346,156
Ensembl chr 4:175,333,092...175,346,153
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Gys2
glycogen synthase 2
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,365,054...175,406,228
Ensembl chr 4:175,365,054...175,406,228
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Kcnj8
potassium inwardly-rectifying channel, subfamily J, member 8
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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Ldhb
lactate dehydrogenase B
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
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Pyroxd1
pyridine nucleotide-disulphide oxidoreductase domain 1
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,292,124...175,311,143
Ensembl chr 4:175,292,177...175,308,689
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Recql
RecQ like helicase
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945
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Spx
spexin hormone
ISO
ClinVar Annotator: match by term: Dilated cardiomyopathy 1O
ClinVar
PMID:28492532
NCBI chr 4:175,356,044...175,362,082
Ensembl chr 4:175,356,247...175,362,082
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