Disease: Bardet-Biedl syndrome 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
dbSNP: rs778225393
rs778225393
Entrez Id: 582;254359
Gene Symbol: BBS1;ZDHHC24
BBS1;ZDHHC24
CUI: C2936862
Disease:
Bardet-Biedl syndrome 1 (disorder) 		0.700 GeneticVariation UNIPROT Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002