Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10938
Gene Symbol: EHD1
EHD1 		0.010 Biomarker disease BEFREE EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. 10564830 1999
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. 28143435 2017
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167 2015
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860 2014
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788 2014
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731 2013
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970 2012
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089 2012
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442 2012
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737 2012
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826 2011
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation disease CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003