Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441

2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome. 17519557

2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602

2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. 16794820

2006
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. 16170314

2005
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545

2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. 15539463

2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4
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 MGD Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. 15173597

2004