Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 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
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
KIAA0753 Q2KHM9 KIAA0753 1.6E-28 0.631 0.577
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
LRRCC1 Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 7.2E-21 0.722 0.577
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654
CLUAP1 Q96AJ1 clusterin associated protein 1 4.2E-04 0.805 0.231
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
LPO P22079 lactoperoxidase Enzyme 7.5E-17 0.678 0.577
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654
PIBF1 Q8WXW3 progesterone immunomodulatory binding factor 1 1.9E-11 0.670 0.462
C2CD3 Q4AC94 C2 domain containing 3 centriole elongation regulator 4.4E-19 0.636 0.538
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577