DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Acromicric Dysplasia ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

fibrillin 1

0.417

0.846

1.00

CUI:	C0265287
Disease:	Acromicric Dysplasia

Acromicric Dysplasia

disease

0.790

strong

1.000

0

1995

2018