Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
HJV Q6ZVN8 hemojuvelin BMP co-receptor 4.2E-03 0.621 0.654
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
DCAF17 Q5H9S7 DDB1 and CUL4 associated factor 17 3.7E-07 0.653 0.577