Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SBDS Q9Y3A5 SBDS ribosome maturation factor Enzyme 6.2E-05 0.601 0.692
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577