DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Bardet-Biedl syndrome 1 (disorder) ×

Gene: BBS1 ×

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:	582
Gene Symbol:	BBS1

BBS1

Bardet-Biedl syndrome 1

0.593

0.692

3.4E-12

CUI:	C2936862
Disease:	Bardet-Biedl syndrome 1 (disorder)

Bardet-Biedl syndrome 1 (disorder)

disease

0.940

None

1.000

0

1999

2017