DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) ×

Gene: LMNA ×

Results per page

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:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.200

GeneticVariation

CLINVAR

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

27854218

2016

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C1834653
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)

0.200

CausalMutation

CLINVAR