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Standards Ontologies Notations
dilated cardiomyopathy 1U

Summary
Synonym
  • CMD1U
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3.
Super Class
autosomal dominant disease dilated cardiomyopathy
External Links
Disease Ontology
DOID:0110455
Mondo Disease Ontology
OMIM
Related Genes
Displaying entry 41 - 41 of 41 in total
Gene ID Gene Symbol Description Source
100507436 MICA MHC class I polypeptide-related sequence A
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
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
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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