rs768933093, BBS10

N. diseases: 10
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971 2015
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 20472660 2010
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006