DisGeNET - a database of gene-disease associations

Gene: LMNA ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C2875316
Disease:	Myotubular (centronuclear) myopathy

Myotubular (centronuclear) myopathy

0.200

Biomarker

MGD

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

2012