Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker GENOMICS_ENGLAND Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker GENOMICS_ENGLAND Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker GENOMICS_ENGLAND Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139

2001
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker GENOMICS_ENGLAND

Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker GENOMICS_ENGLAND

Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.500 Biomarker 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: 79140
Gene Symbol: CCDC28B
CCDC28B
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.500 Biomarker 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: 8195
Gene Symbol: MKKS
MKKS
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 Biomarker GENOMICS_ENGLAND Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 10802661

2000
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 123016
Gene Symbol: TTC8
TTC8
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 20451172

2010
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND The embryonic expression patterns and the knockdown phenotypes of zebrafish ADP-ribosylation factor-like 6 interacting protein gene. 19097054

2009
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407

2009
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 17994549

2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974

2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886

2006
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860

2004
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55212
Gene Symbol: BBS7
BBS7
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 166379
Gene Symbol: BBS12
BBS12
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 585
Gene Symbol: BBS4
BBS4
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND