DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: BARTTER SYNDROME, TYPE 4A ×

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:	7809
Gene Symbol:	BSND

BSND

barttin CLCNK type accessory subunit beta

0.603

0.692

1.1E-10

CUI:	C1865270
Disease:	BARTTER SYNDROME, TYPE 4A

BARTTER SYNDROME, TYPE 4A

disease

0.910

definitive

1.000

0

1998

2017