Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease BEFREE This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis. 15654695 2005
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease MGD Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. 15173597 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease MGD We also demonstrate that Bbs2(-/-) mice and a second BBS mouse model, Bbs4(-/-), have a defect in social function. 15539463 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease BEFREE Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. 15173597 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease BEFREE The corresponding gene NMB maps to chromosome 15q22.3-q23, a region expected to contain a gene for the Bardet-Biedl syndrome type 4 (BBS4). 11194934 2000
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 GeneticVariation disease BEFREE Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in <3% of affected families. 12016587 2002
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 Biomarker disease MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 GeneticVariation disease LHGDN Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in <3% of affected families. 12016587 2002
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.400 CausalMutation disease CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204 2016