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Standards Ontologies Notations
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MIRAGE
dilated cardiomyopathy 1H

Summary
Synonym
  • dilated cardiomyopathy with conduction defect
Definition
A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
Super Class
dilated cardiomyopathy monogenic disease
Disease Ontology
DOID:0110429
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
11556 Adrb3 adrenergic receptor, beta 3
11739 Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
14960 H2-Aa histocompatibility 2, class II antigen A, alpha
14961 H2-Ab1 histocompatibility 2, class II antigen A, beta 1
21926 Tnf tumor necrosis factor
22067 Trpc5 transient receptor potential cation channel, subfamily C, member 5
26926 Aifm1 apoptosis-inducing factor, mitochondrion-associated 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25645 Adrb3 adrenoceptor beta 3
85333 Slc25a4 solute carrier family 25 member 4
Displaying all 2 entries
Gene ID Gene Symbol Description Source
41549 Octbeta2R Octopamine beta2 receptor
42652 Octbeta1R Octopamine beta1 receptor
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
Displaying all 4 entries
Gene ID Gene Symbol Description
2218 FKTN fukutin
22845 DOLK dolichol kinase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
70 ACTC1 actin alpha cardiac muscle 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025