Gene: BBS4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 CausalMutation disease CLINVAR BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 19402160 2009
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 Biomarker disease BEFREE Here we report that despite tissue specific variable expression of the transgene, human BBS4 was able to complement the deficiency of Bbs4 and rescue all the BBS phenotypes in the Bbs4 null mice. 23554981 2013
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease CLINVAR Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 24849935 2014
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. 25533820 2014
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 CausalMutation disease CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204 2016
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 CausalMutation disease CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 Biomarker disease BEFREE Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. 30902542 2019
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