DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Marfan Syndrome, Type I ×

Gene: FBN1 ×

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:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C4721845
Disease:	Marfan Syndrome, Type I

Marfan Syndrome, Type I

0.530

GermlineCausalMutation

ORPHANET