DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Bardet-Biedl syndrome 4 (disorder) ×

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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:	585
Gene Symbol:	BBS4

BBS4

Bardet-Biedl syndrome 4

0.647

0.615

1.5E-16

CUI:	C2936864
Disease:	Bardet-Biedl syndrome 4 (disorder)

Bardet-Biedl syndrome 4 (disorder)

disease

0.910

None

1.000

0

2001

2019