Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		0.400 GeneticVariation disease CLINVAR Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321 2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 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: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 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: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease MGD Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 26216965 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860 2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788 2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731 2013
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 CausalMutation disease CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease MGD Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. 23160237 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 CausalMutation disease CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442 2012
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		0.500 Biomarker disease GENOMICS_ENGLAND Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. 23015189 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012