DisGeNET - a database of gene-disease associations

BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60

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:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

28143435

2017

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C4225281
Disease:

RETINITIS PIGMENTOSA 74

0.800

GeneticVariation

UNIPROT

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

25541840

2015

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

Carrier frequency of two BBS2 mutations in the Ashkenazi population.

23829372

2014

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

Genotype-phenotype correlations in Bardet-Biedl syndrome.

22410627

2012

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

21344540

2011

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

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

21344540

2011

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

21344540

2011

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

21344540

2011

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

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

20498079

2010

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

CLINVAR

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

20498079

2010

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

16823392

2006

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

16823392

2006

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

16823392

2006

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

15666242

2005

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

15666242

2005

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

15666242

2005

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

12677556

2003

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

12872256

2003

dbSNP:

rs121908174

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Further support for digenic inheritance in Bardet-Biedl syndrome.

12920096

2003

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

12677556

2003

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Further support for digenic inheritance in Bardet-Biedl syndrome.

12920096

2003

dbSNP:

rs121908179

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

12872256

2003

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Further support for digenic inheritance in Bardet-Biedl syndrome.

12920096

2003

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

12872256

2003

dbSNP:

rs121908181

Entrez Id:	583
Gene Symbol:	BBS2

BBS2

CUI:	C2936863
Disease:

Bardet-Biedl syndrome 2 (disorder)

0.800

GeneticVariation

UNIPROT

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

12677556

2003