Cardiomyopathy (Phenotype)

Synonyms:Disease of the heart muscle

Id:HP:0001638

Description:A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

Results found

Linked to

	Label	Description
	CMTR1 Gene (Entity type)	ENSG00000137200 - cap methyltransferase 1
	PMM2 Gene (Entity type)	ENSG00000140650 - phosphomannomutase 2
	KRT31 Gene (Entity type)	ENSG00000262993 - keratin 31 [Source:HGNC Symbol;Acc:HGNC:6448]
	IGKV6-21 Gene (Entity type)	ENSG00000282210 - immunoglobulin kappa variable 6-21 (non-functional) [Source:HGNC Symbol;Acc:HGNC:5836]
	MT-CO1 Gene (Entity type)	ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]
	KCNJ16 Gene (Entity type)	ENSG00000153822 - potassium inwardly rectifying channel subfamily J member 16
	LSS Gene (Entity type)	ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]
	FHL2 Gene (Entity type)	ENSG00000115641 - four and a half LIM domains 2
	HLCS Gene (Entity type)	ENSG00000159267 - holocarboxylase synthetase
	CYP2F1 Gene (Entity type)	ENSG00000197446 - cytochrome P450 family 2 subfamily F member 1

CMTR1

Gene (Entity type)

ENSG00000137200 - cap methyltransferase 1

PMM2

Gene (Entity type)

ENSG00000140650 - phosphomannomutase 2

KRT31

Gene (Entity type)

ENSG00000262993 - keratin 31 [Source:HGNC Symbol;Acc:HGNC:6448]

IGKV6-21

Gene (Entity type)

ENSG00000282210 - immunoglobulin kappa variable 6-21 (non-functional) [Source:HGNC Symbol;Acc:HGNC:5836]

MT-CO1

Gene (Entity type)

ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

KCNJ16

Gene (Entity type)

ENSG00000153822 - potassium inwardly rectifying channel subfamily J member 16

LSS

Gene (Entity type)

ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]

FHL2

Gene (Entity type)

ENSG00000115641 - four and a half LIM domains 2

HLCS

Gene (Entity type)

ENSG00000159267 - holocarboxylase synthetase

CYP2F1

Gene (Entity type)

ENSG00000197446 - cytochrome P450 family 2 subfamily F member 1

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.