DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Nuclear non-senile cataract ×

Gene: BFSP1 ×

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:	631
Gene Symbol:	BFSP1

BFSP1

beaded filament structural protein 1

0.729

0.231

1.8E-07

CUI:	C1112705
Disease:	Nuclear non-senile cataract

Nuclear non-senile cataract

disease

0.400

None

1.000

0

2013

2013