DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Mandibuloacral dysostosis ×

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:	C0432291
Disease:	Mandibuloacral dysostosis

Mandibuloacral dysostosis

0.800

GermlineCausalMutation

ORPHANET

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

2002