Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.720 CausalMutation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.720 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526

2019
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 CausalMutation CLINVAR The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 26325687

2015
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.180 GeneticVariation CLINVAR We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome. 15137946

2004
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.100 GeneticVariation CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946

2004
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0035637
Disease: Rinderpest
Rinderpest 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.100 GeneticVariation CLINVAR