DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: BARDET-BIEDL SYNDROME 12 ×

Variant: rs752202089 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs752202089

BBS12

CUI:	C1859570
Disease:	BARDET-BIEDL SYNDROME 12

BARDET-BIEDL SYNDROME 12

0.700

CausalMutation

CLINVAR

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

21642631

2011

dbSNP:

rs752202089

BBS12

CUI:	C1859570
Disease:	BARDET-BIEDL SYNDROME 12

BARDET-BIEDL SYNDROME 12

0.700

GeneticVariation

CLINVAR

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

21642631

2011

dbSNP:

rs752202089

BBS12

CUI:	C1859570
Disease:	BARDET-BIEDL SYNDROME 12

BARDET-BIEDL SYNDROME 12

0.700

CausalMutation

CLINVAR

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

20827784

2010

dbSNP:

rs752202089

BBS12

CUI:	C1859570
Disease:	BARDET-BIEDL SYNDROME 12

BARDET-BIEDL SYNDROME 12

0.700

GeneticVariation

CLINVAR

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

20827784

2010