DisGeNET - a database of gene-disease associations

Protrusio acetabuli, C0409495

Gene: FBN1 ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.110

GeneticVariation

disease

BEFREE

Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip.

2009

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.110

GeneticVariation

disease

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.110

Biomarker

disease

HPO