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: 139212
Gene Symbol: PIH1D3
PIH1D3 		PIH1 domain containing 3 0.674 0.538 0.86
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.320 None 1.000 1 0 2017 2017
Entrez Id: 27148
Gene Symbol: STK36
STK36 		serine/threonine kinase 36 0.678 0.577 7.1E-22
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.310 None 1.000 1 0 2017 2017
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300 		cilia and flagella associated protein 300 0.682 0.500 2.1E-06
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.320 None 1.000 2 0 2018 2018
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2 		sperm flagellar 2 0.792 0.269 3.1E-25
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.310 None 1.000 1 0 2018 2020
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56 		leucine rich repeat containing 56 0.670 0.500 7.7E-10
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.310 None 1.000 0 0 2018 2018
Entrez Id: 246176
Gene Symbol: GAS2L2
GAS2L2 		growth arrest specific 2 like 2 0.678 0.500 1.6E-06
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease 0.310 None 1.000 0 0 2019 2019