BBS12, Bardet-Biedl syndrome 12, 166379

N. diseases: 49; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 CausalMutation disease 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
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 CausalMutation disease CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 CausalMutation disease CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784 2010
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 CausalMutation disease CLINVAR
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 24611592 2014
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. 20827784 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation disease CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 CausalMutation disease CLINVAR
CUI: C0042798
Disease: Low Vision
Low Vision 		0.100 CausalMutation disease CLINVAR
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.100 CausalMutation disease CLINVAR
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 CausalMutation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 CausalMutation group CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.100 CausalMutation phenotype CLINVAR
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 Biomarker disease CTD_human
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 Biomarker disease GENOMICS_ENGLAND 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