DisGeNET - a database of gene-disease associations

BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29

Source: ALL

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:

rs863224530

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

30614526

2019

dbSNP:

rs9995319

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs760165634

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

26518167

2015

dbSNP:

rs869025207

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1859565
Disease:

BARDET-BIEDL SYNDROME 7

0.700

CausalMutation

CLINVAR

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

26518167

2015

dbSNP:

rs119466002

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.

23572516

2013

dbSNP:

rs10084948

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs1048433

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs119466002

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

22500027

2012

dbSNP:

rs12510839

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs13119055

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs13145213

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs13152701

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs17005256

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs3762840

Entrez Id:	890;55212
Gene Symbol:	CCNA2;BBS7

CCNA2;BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs9995319

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs119466002

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

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

21642631

2011

dbSNP:

rs754579374

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1859565
Disease:

BARDET-BIEDL SYNDROME 7

0.700

GeneticVariation

UNIPROT

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

21344540

2011

dbSNP:

rs119466002

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

20498079

2010

dbSNP:

rs760165634

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

19402160

2009

dbSNP:

rs754579374

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1859565
Disease:

BARDET-BIEDL SYNDROME 7

0.700

GeneticVariation

UNIPROT

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

15770229

2005

dbSNP:

rs119466002

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

12567324

2003

dbSNP:

rs1560638613

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

GeneticVariation

CLINVAR

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

12567324

2003

dbSNP:

rs1560658189

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C0752166
Disease:

Bardet-Biedl Syndrome

0.700

CausalMutation

CLINVAR

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

12567324

2003

dbSNP:

rs754579374

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1859565
Disease:

BARDET-BIEDL SYNDROME 7

0.700

GeneticVariation

UNIPROT

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

12677556

2003

dbSNP:

rs754579374

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C1859565
Disease:

BARDET-BIEDL SYNDROME 7

0.700

GeneticVariation

UNIPROT

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

12567324

2003