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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:0110429
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 41 - 44 of 44 in total
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
81031 SLC2A10 solute carrier family 2 member 10
148738 HJV hemojuvelin BMP co-receptor
100507436 MICA MHC class I polypeptide-related sequence A
Displaying 1 entry
Gene ID Gene Symbol Description Source
21926 Tnf tumor necrosis factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0012764 Orthopnea
HP:0100578 Lipoatrophy
Displaying all 3 entries
Gene ID Gene Symbol Description
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin
22845 DOLK dolichol kinase
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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: August 19, 2024