Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation BEFREE Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. 31144483

2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation BEFREE Previously, we identified a family affected by retinitis pigmentosa caused by the homozygous BBS1 splice donor site mutation c.479G > A. 31541798

2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker GENOMICS_ENGLAND The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. 23143442

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation BEFREE BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation CLINVAR 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker HPO