Myopathy (Phenotype)

Phenotype:

SU002487

Synonyms:HP:0003569, HP:0003705, HP:0003742, HP:0003802, Muscle tissue disease, Myopathic changes

Id:HP:0003198

Description:A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Results found

Linked to

	Label	Description
	CMTR1 Gene (Entity type)	ENSG00000137200 - cap methyltransferase 1
	CTNS Gene (Entity type)	ENSG00000040531 - cystinosin, lysosomal cystine transporter
	MT-CO1 Gene (Entity type)	ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]
	FHL2 Gene (Entity type)	ENSG00000115641 - four and a half LIM domains 2
	HLCS Gene (Entity type)	ENSG00000159267 - holocarboxylase synthetase
	DYSF Gene (Entity type)	ENSG00000135636 - dysferlin
	SLC18A3 Gene (Entity type)	ENSG00000187714 - solute carrier family 18 member A3
	MTTP Gene (Entity type)	ENSG00000138823 - microsomal triglyceride transfer protein
	GPR87 Gene (Entity type)	ENSG00000138271 - G protein-coupled receptor 87
	KIR2DL1 Gene (Entity type)	ENSG00000276820 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 [Source:HGNC Symbol;Acc:HGNC:6329]

CMTR1

Gene (Entity type)

ENSG00000137200 - cap methyltransferase 1

CTNS

Gene (Entity type)

ENSG00000040531 - cystinosin, lysosomal cystine transporter

MT-CO1

Gene (Entity type)

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

FHL2

Gene (Entity type)

ENSG00000115641 - four and a half LIM domains 2

HLCS

Gene (Entity type)

ENSG00000159267 - holocarboxylase synthetase

DYSF

Gene (Entity type)

ENSG00000135636 - dysferlin

SLC18A3

Gene (Entity type)

ENSG00000187714 - solute carrier family 18 member A3

MTTP

Gene (Entity type)

ENSG00000138823 - microsomal triglyceride transfer protein

GPR87

Gene (Entity type)

ENSG00000138271 - G protein-coupled receptor 87

KIR2DL1

Gene (Entity type)

ENSG00000276820 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 [Source:HGNC Symbol;Acc:HGNC:6329]

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Consortium

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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.