BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: Obesity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.620 GeneticVariation disease BEFREE One patient with extreme obesity carried 2 novel damaging mutations in BBS1 and was homozygous for benign and damaging MC3R variants. 24081230 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.620 Biomarker disease MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.620 GeneticVariation disease BEFREE Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002
CUI: C0028754
Disease: Obesity
Obesity 		0.620 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.620 Biomarker disease GENOMICS_ENGLAND