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: 27148
Gene Symbol: STK36
STK36 		serine/threonine kinase 36 0.678 0.577 7.1E-22
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		multiciliate differentiation and DNA synthesis associated cell cycle protein 0.566 0.769 1.3E-02
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 0 2014 2014
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		dynein axonemal assembly factor 3 0.599 0.731 5.5E-08
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.600 None 1.000 1 0 2012 2012
Entrez Id: 374407
Gene Symbol: DNAJB13
DNAJB13 		DnaJ heat shock protein family (Hsp40) member B13 0.682 0.500 2.9E-03
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		coiled-coil domain containing 103 0.666 0.538 5.1E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 0 2012 2012
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.300 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.300 None 0 0
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		dynein regulatory complex subunit 1 0.641 0.654 8.3E-20
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.700 moderate 1.000 1 0 2013 2013