Gene: BBS4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE We examined 3 pairs of siblings with Bardet-Biedl syndrome in whom 3 different mutations in the BBS4 gene were detected, 2 of which were homozygous for the mutation. 12365916 2002
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in <3% of affected families. 12016587 2002
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease LHGDN Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in <3% of affected families. 12016587 2002
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease CLINVAR Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 11381270 2001
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 CausalMutation disease CLINVAR Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 11381270 2001
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 Biomarker disease BEFREE The corresponding gene NMB maps to chromosome 15q22.3-q23, a region expected to contain a gene for the Bardet-Biedl syndrome type 4 (BBS4). 11194934 2000
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE BBS is genetically heterogeneous with four known loci: BBS1 (11q), BBS2 (16q), BBS3 (3p), and BBS4 (15q). 9888993 1999
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and severity of clinical manifestations, particularly the pattern of polydactyly, reflects chromosome-specific subtypes of BBS [Carmi et al., 1995a; Am J Med Genet 59:199-203]. 9714014 1998
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.400 GeneticVariation disease BEFREE The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome. 9227203 1997