BBIP1, BBSome interacting protein 1, 92482

N. diseases: 37; N. variants: 1
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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.610 GermlineCausalMutation disease ORPHANET These findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS. 24026985 2014
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.610 Biomarker disease BEFREE These findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS. 24026985 2014
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.610 Biomarker disease MGD Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia. 24316073 2013
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.610 CausalMutation disease CLINVAR
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia. 24316073 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 Biomarker group HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO