BBIP1, BBSome interacting protein 1, 92482

N. diseases: 37; N. variants: 1
Disease: BARDET-BIEDL SYNDROME 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 Biomarker disease GENOMICS_ENGLAND Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 24026985 2014
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 Biomarker disease GENOMICS_ENGLAND Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 24026985 2014
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 Biomarker disease GENOMICS_ENGLAND Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 24026985 2014
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 Biomarker disease MGD Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia. 24316073 2013
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 CausalMutation disease CLINVAR
CUI: C3806174
Disease: BARDET-BIEDL SYNDROME 18
BARDET-BIEDL SYNDROME 18 		0.800 Biomarker disease CTD_human