Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204

2016
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 11381270

2001
Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 11381270

2001