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 31 - 40 of 44 in total
Gene ID Gene Symbol Description Source
5973 RENBP renin binding protein
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6392 SDHD succinate dehydrogenase complex subunit D
6517 SLC2A4 solute carrier family 2 member 4
7124 TNF tumor necrosis factor
7941 PLA2G7 phospholipase A2 group VII
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
10135 NAMPT nicotinamide phosphoribosyltransferase
22845 DOLK dolichol kinase
29954 POMT2 protein O-mannosyltransferase 2
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0000407 Sensorineural hearing impairment
HP:0000969 Edema
HP:0001635 Congestive heart failure
HP:0001644 Dilated cardiomyopathy
HP:0001727 Thromboembolic stroke
HP:0002875 Exertional dyspnea
HP:0003198 Myopathy
HP:0003457 EMG abnormality
HP:0011675 Arrhythmia
HP:0012378 Fatigue
Displaying all 3 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
2218 FKTN fukutin

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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