Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.010 GeneticVariation disease BEFREE SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019