Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
SLC30A7 Q8NEW0 solute carrier family 30 member 7 Transporter 4.4E-07 0.792 0.385
MICALL2 Q8IY33 MICAL like 2 3.4E-26 0.839 0.269