BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908177
rs121908177
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
dbSNP: rs121908177
rs121908177
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011
dbSNP: rs121908177
rs121908177
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation 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
dbSNP: rs121908177
rs121908177
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
dbSNP: rs121908177
rs121908177
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		A 0.700 CausalMutation CLINVAR Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252 2001