Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 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: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 24611592

2014
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638

2010
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784

2010
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 17160889

2007
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 GeneticVariation CLINVAR