Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		Q8TE73 dynein axonemal heavy chain 5 Enzyme 9 0.590 0.692 4.9E-64 0.310 None 1.000 21 122 1990 2016
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		Q9GZS0 dynein axonemal intermediate chain 2 Cellular structure 3 0.666 0.500 9.5E-13 0.300 None 1.000 4 12 2008 2015
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		Q9UI46 dynein axonemal intermediate chain 1 Cellular structure 2 0.597 0.692 2.4E-08 0.100 None 1.000 10 17 1999 2018
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39 		Q9UFE4 coiled-coil domain containing 39 2 0.641 0.615 7.9E-12 0.100 None 1.000 9 33 1990 2016
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		Q96DT5 dynein axonemal heavy chain 11 Enzyme 39 0.587 0.692 2.5E-58 0.100 None 1.000 8 53 2008 2016
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		Q4G0X9 coiled-coil domain containing 40 3 0.656 0.538 3.8E-17 0.100 None 1.000 7 25 2011 2016
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		A6NFU0 family with sequence similarity 187 member A 6 0.890 0.154 6.5E-06 0.100 None 1.000 6 3 2012 2018
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		Q8IW40 coiled-coil domain containing 103 6 0.666 0.538 5.1E-04 0.100 None 1.000 6 3 2012 2018
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		Q5TD94 radial spoke head component 4A 3 0.666 0.538 7.6E-11 0.100 None 1.000 5 15 2009 2015
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9 		Q9H1X1 radial spoke head component 9 Nucleic acid binding 3 0.659 0.615 2.4E-09 0.100 None 1.000 4 4 2009 2014
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		P22674 cyclin O Enzyme modulator 3 0.621 0.538 3.5E-03 0.100 None 1.000 4 7 2014 2016
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		Q8WYR4 radial spoke head component 1 3 0.666 0.500 2.1E-06 0.100 None 1.000 4 9 2013 2015
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		Q92834 retinitis pigmentosa GTPase regulator 13 0.536 0.692 1.00 0.100 None 1.000 3 3 1997 2000
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65 		Q8IXS2 coiled-coil domain containing 65 6 0.674 0.500 5.8E-11 0.100 None 1.000 3 1 2013 2015
Entrez Id: 151613
Gene Symbol: TTC14
TTC14 		Q96N46 tetratricopeptide repeat domain 14 1 1.2E-09 0.100 None 1.000 3 4 2011 2013
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5 		Q86Y56 dynein axonemal assembly factor 5 2 0.670 0.500 8.1E-11 0.100 None 1.000 3 8 2012 2014
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		Q96M63 coiled-coil domain containing 114 3 0.674 0.500 6.6E-09 0.100 None 1.000 2 6 2013 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		O75800 zinc finger MYND-type containing 10 3 0.553 0.731 2.3E-07 0.100 None 1.000 2 4 2013 2013
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1 		Q8NEP3 dynein axonemal assembly factor 1 3 0.633 0.654 8.5E-12 0.100 None 1.000 2 15 2009 2009
Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1 		Q4LDG9 dynein axonemal light chain 1 3 0.682 0.500 8.9E-03 0.100 None 1.000 1 2 2011 2011
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298 		P57076 cilia and flagella associated protein 298 3 0.678 0.500 1.1E-06 0.100 None 1.000 1 3 2013 2013
Entrez Id: 100131047
Gene Symbol: DNAH8-AS1
DNAH8-AS1 		DNAH8 antisense RNA 1 1 0.100 None 1.000 1 6 2014 2014
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		Q5T2S8 armadillo repeat containing 4 3 0.641 0.615 1.9E-25 0.100 None 1.000 1 1 2013 2013
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		Q8N9W5 dynein axonemal assembly factor 3 3 0.599 0.731 5.5E-08 0.100 None 1.000 1 9 2012 2012
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		Q96MC2 dynein regulatory complex subunit 1 3 0.641 0.654 8.3E-20 0.100 None 1.000 1 3 2013 2013