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
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
FAM20C Q8IXL6 FAM20C golgi associated secretory pathway kinase 0.31 0.578 0.731
POMGNT2 Q8NAT1 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Enzyme 5.6E-06 0.628 0.500
WDR81 Q562E7 WD repeat domain 81 6.7E-08 0.670 0.462
TRNV tRNA 0.670 0.423
SPDL1 Q96EA4 spindle apparatus coiled-coil protein 1 8.6E-17