DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Heart-hand syndrome, Slovenian type ×

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:	C1857829
Disease:	Heart-hand syndrome, Slovenian type

Heart-hand syndrome, Slovenian type

0.700

GermlineCausalMutation

ORPHANET

Heart-hand syndrome of Slovenian type: a new kind of laminopathy.

2008