Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		multiciliate differentiation and DNA synthesis associated cell cycle protein 0.566 0.769 1.3E-02
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.310 None 1.000 1 0 2014 2014
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		HYDIN axonemal central pair apparatus protein 0.641 0.538 2.3E-24
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.310 None 1.000 1 0 2012 2012
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56 		leucine rich repeat containing 56 0.670 0.500 7.7E-10
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		dynein axonemal heavy chain 9 0.716 0.500 3.1E-60
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.540 strong 1.000 2 0 2001 2018
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		coiled-coil domain containing 114 0.674 0.500 6.6E-09
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.530 strong 1.000 2 0 2013 2019
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300 		cilia and flagella associated protein 300 0.682 0.500 2.1E-06
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.520 strong 1.000 2 0 2018 2018
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		zinc finger MYND-type containing 10 0.553 0.731 2.3E-07
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.350 None 1.000 2 0 2013 2018
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		cyclin O 0.621 0.538 3.5E-03
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease 0.310 None 1.000 2 0 2014 2015