BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
Disease: BARDET-BIEDL SYNDROME 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754579374
rs754579374
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C1859565
Disease:
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
dbSNP: rs754579374
rs754579374
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C1859565
Disease:
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
dbSNP: rs754579374
rs754579374
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C1859565
Disease:
BARDET-BIEDL SYNDROME 7 		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: rs754579374
rs754579374
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C1859565
Disease:
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003