Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769 18 49
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 23 125
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846 11 54
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692 15 64
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 6 30
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 5 13
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692 14 9
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615 19 20
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731 32 24
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692 9 7
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 10 83
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654 4 15
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654 6 20
B9D2 Q9BPU9 B9 domain containing 2 Extracellular structure 5.3E-05 0.606 0.577 1 4
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577 8 2
KIAA0753 Q2KHM9 KIAA0753 1.6E-28 0.631 0.577 8 4
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538 7 8
C2CD3 Q4AC94 C2 domain containing 3 centriole elongation regulator 4.4E-19 0.636 0.538 2 7
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538 2 2
PIBF1 Q8WXW3 progesterone immunomodulatory binding factor 1 1.9E-11 0.670 0.462 3 6
LPO P22079 lactoperoxidase Enzyme 7.5E-17 0.678 0.577 5 7
RCOR1 Q9UKL0 REST corepressor 1 1.00 0.678 0.577 1 1