BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Bardet-Biedl syndrome 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 Biomarker disease GENOMICS_ENGLAND Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 18203199 2008
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 16877420 2006
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease 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
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242 2005
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242 2005
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 15666242 2005
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 Biomarker disease MGD Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. 15539463 2004
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. 12837689 2003
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. 12872256 2003
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 14520415 2003
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 Biomarker disease BEFREE With respect to intrafamiliar variations in the manifestation of BBS, we suggest that plasmolipin might be either another candidate gene or a modifier of the BBS2 phenotype. 11707781 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 CausalMutation disease CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 GeneticVariation disease UNIPROT Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252 2001
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		0.910 Biomarker disease GENOMICS_ENGLAND