Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 GeneticVariation disease BEFREE This finding represents the first identification of a naturally-occurring nonhuman primate model of BBS, and more broadly the first such model of retinitis pigmentosa and a ciliopathy with an associated genetic mutation. 31589838 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 GeneticVariation disease BEFREE Taken together, our results seem to prove the pathogenicity of the already classified and unclassified new BBS variants, as well as highlight the usefulness of zebrafish as an animal model for in vivo assays in human ciliopathies. 31506453 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 GeneticVariation disease BEFREE Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy. 28800606 2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 Biomarker disease BEFREE Given the proven role of BBS proteins in the function of the primary cilium (PC) and considering the clinical overlapping of BBS with other ciliopathies, BBS is considered the result of disruption of ciliary activities. 29161709 2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 GeneticVariation disease BEFREE In a BBS patient from a consanguineous marriage we performed next-generation sequencing targeting all known BBS genes and other genes known or hypothesized to cause ciliopathies. 26854863 2016
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 Biomarker disease BEFREE Bardet-Biedl syndrome (BBS) proteins localize to the base of cilia and undergo intraflagellar transport, and the loss of their functions leads to a multisystemic ciliopathy. 22022287 2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.360 Biomarker disease GENOMICS_ENGLAND