Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease CTD_human
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		0.500 Biomarker disease CTD_human
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.400 CausalMutation disease CLINVAR
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		0.400 CausalMutation disease CLINVAR
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.300 Biomarker disease GENOMICS_ENGLAND
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: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 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: 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: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease BEFREE A linkage disequilibrium (LD) study involving six Newfoundland families predicted a critical interval for Bardet-Biedl syndrome 1 (BBS1) (Young et al. in Am J Hum Genet 65:1680-1687, 1999), but the subsequent identification of BBS1 revealed that it lies outside this region. 15517396 2005
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: 123016
Gene Symbol: TTC8
TTC8 		0.300 Biomarker disease GENOMICS_ENGLAND A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 20451172 2010
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