GlyCosmos Portal

dilated cardiomyopathy 1BB

Synonym

Definition

A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1.

Super Class

dilated cardiomyopathy monogenic disease

Disease Ontology

DOID:0110458

Mondo Disease Ontology

OMIM

Related Genes

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Gene ID	Gene Symbol	Description	Source
100507436	MICA	MHC class I polypeptide-related sequence A	DisGeNET

Related Glycoprotein

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UniProt ID	Protein Name	Source
B0YJ81	Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1	DisGeNET
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	DisGeNET
O14561	Acyl carrier protein, mitochondrial	DisGeNET
O75072	Ribitol-5-phosphate transferase FKTN	DisGeNET
O95528	Solute carrier family 2, facilitated glucose transporter member 10	DisGeNET
P00338	L-lactate dehydrogenase A chain	DisGeNET
P00492	Hypoxanthine-guanine phosphoribosyltransferase	DisGeNET
P06858	Lipoprotein lipase	DisGeNET
P07203	Glutathione peroxidase 1	DisGeNET

Displaying entries **1 - 10** of 12 in total

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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