Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692 39 55
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 23 125
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692 13 49
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346 11 2
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 9 128
FAM187A A6NFU0 family with sequence similarity 187 member A 6.5E-06 0.890 0.154 6 4
CCDC103 Q8IW40 coiled-coil domain containing 103 5.1E-04 0.666 0.538 6 4
CCDC65 Q8IXS2 coiled-coil domain containing 65 5.8E-11 0.674 0.500 6 2
CCDC40 Q4G0X9 coiled-coil domain containing 40 3.8E-17 0.656 0.538 3 28
RSPH4A Q5TD94 radial spoke head component 4A 7.6E-11 0.666 0.538 3 18
DNAAF1 Q8NEP3 dynein axonemal assembly factor 1 8.5E-12 0.633 0.654 3 17
DNAI2 Q9GZS0 dynein axonemal intermediate chain 2 Cellular structure 9.5E-13 0.666 0.500 3 15
RSPH1 Q8WYR4 radial spoke head component 1 2.1E-06 0.666 0.500 3 14
ARMC4 Q5T2S8 armadillo repeat containing 4 1.9E-25 0.641 0.615 3 13
CCNO P22674 cyclin O Enzyme modulator 3.5E-03 0.621 0.538 3 11
DNAAF3 Q8N9W5 dynein axonemal assembly factor 3 5.5E-08 0.599 0.731 3 11
LRRC6 Q86X45 leucine rich repeat containing 6 1.0E-10 0.659 0.538 3 10
CCDC114 Q96M63 coiled-coil domain containing 114 6.6E-09 0.674 0.500 3 9
ZMYND10 O75800 zinc finger MYND-type containing 10 2.3E-07 0.553 0.731 3 8
RSPH9 Q9H1X1 radial spoke head component 9 Nucleic acid binding 2.4E-09 0.659 0.615 3 5
CFAP298 P57076 cilia and flagella associated protein 298 1.1E-06 0.678 0.500 3 4
DRC1 Q96MC2 dynein regulatory complex subunit 1 8.3E-20 0.641 0.654 3 4
DNAL1 Q4LDG9 dynein axonemal light chain 1 8.9E-03 0.682 0.500 3 2
CCDC39 Q9UFE4 coiled-coil domain containing 39 7.9E-12 0.641 0.615 2 33