Disease: Keratosis Follicularis
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769