BBS12, Bardet-Biedl syndrome 12, 166379

N. diseases: 49; N. variants: 43
Disease: BARDET-BIEDL SYNDROME 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138011813
rs138011813
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease:
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs138011813
rs138011813
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease:
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation UNIPROT BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
dbSNP: rs138011813
rs138011813
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease:
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation UNIPROT Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
dbSNP: rs138011813
rs138011813
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C1859570
Disease:
BARDET-BIEDL SYNDROME 12 		0.700 GeneticVariation UNIPROT 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