BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation group BEFREE Patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. 24611735 2015