DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Charcot-Marie-Tooth Disease ×

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:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.400

GeneticVariation

CLINVAR

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

25025039

2014

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.400

GeneticVariation

CLINVAR

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

18478590

2008

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.400

CausalMutation

CLINVAR

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.400

Biomarker

HPO