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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation CLINVAR Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 25133751

2014
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation CLINVAR A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 20648243

2010
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 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: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation 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: C0152427
Disease: Polydactyly
Polydactyly 		0.400 CausalMutation CLINVAR

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

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 CausalMutation CLINVAR

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0042798
Disease: Low Vision
Low Vision 		0.100 CausalMutation CLINVAR

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.100 CausalMutation CLINVAR

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 CausalMutation CLINVAR

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR