Skeletal muscle atrophy (Phenotype)

Synonyms:HP:0001299, HP:0003545, HP:0003671, HP:0003702, HP:0003746, HP:0006995, HP:0007171, HP:0007356, HP:0009010, HP:0009048, HP:0100868, Amyotrophy, Amyotrophy involving the extremities, Muscle atrophy, Muscle atrophy, neurogenic, Muscle degeneration, Muscle hypotrophy, Muscle wasting, Muscular atrophy, Neurogenic muscle atrophy, Neurogenic muscle atrophy, especially in the lower limbs, Neurogenic muscular atrophy

Id:HP:0003202

Description:The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Results found

Linked to

	Label	Description
	GNAS Gene (Entity type)	ENSG00000087460 - GNAS complex locus
	KRT7 Gene (Entity type)	ENSG00000135480 - keratin 7
	KRT14 Gene (Entity type)	ENSG00000186847 - keratin 14
	EIF5A Gene (Entity type)	ENSG00000132507 - eukaryotic translation initiation factor 5A
	SERPINA1 Gene (Entity type)	ENSG00000197249 - serpin family A member 1
	CEACAM6 Gene (Entity type)	ENSG00000086548 - CEA cell adhesion molecule 6
	TFF1 Gene (Entity type)	ENSG00000160182 - trefoil factor 1
	KRT5 Gene (Entity type)	ENSG00000186081 - keratin 5
	PCNA Gene (Entity type)	ENSG00000132646 - proliferating cell nuclear antigen
	HSPB8 Gene (Entity type)	ENSG00000152137 - heat shock protein family B (small) member 8

GNAS

Gene (Entity type)

ENSG00000087460 - GNAS complex locus

KRT7

Gene (Entity type)

ENSG00000135480 - keratin 7

KRT14

Gene (Entity type)

ENSG00000186847 - keratin 14

EIF5A

Gene (Entity type)

ENSG00000132507 - eukaryotic translation initiation factor 5A

SERPINA1

Gene (Entity type)

ENSG00000197249 - serpin family A member 1

CEACAM6

Gene (Entity type)

ENSG00000086548 - CEA cell adhesion molecule 6

TFF1

Gene (Entity type)

ENSG00000160182 - trefoil factor 1

KRT5

Gene (Entity type)

ENSG00000186081 - keratin 5

PCNA

Gene (Entity type)

ENSG00000132646 - proliferating cell nuclear antigen

HSPB8

Gene (Entity type)

ENSG00000152137 - heat shock protein family B (small) member 8

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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

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