Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		0.500 Biomarker disease CTD_human The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 23354437 2013
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1 		0.300 GermlineCausalMutation disease ORPHANET De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 31630787 2019
Entrez Id: 246176
Gene Symbol: GAS2L2
GAS2L2 		0.300 GermlineCausalMutation disease ORPHANET A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. 30649222 2019
Entrez Id: 2622
Gene Symbol: GAS8
GAS8 		0.300 GermlineCausalMutation disease ORPHANET Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. 26387594 2015
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.300 GermlineCausalMutation disease ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. 30388400 2018
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6 		0.300 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 23122589 2012
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		0.300 GermlineCausalMutation disease ORPHANET MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 25048963 2014
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 139212
Gene Symbol: PIH1D3
PIH1D3 		0.300 GermlineCausalMutation disease ORPHANET Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 28041644 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		0.300 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197 2013
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3 		0.300 GermlineCausalMutation disease ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112 2013
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2 		0.300 GermlineCausalMutation disease ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650 2020
Entrez Id: 27148
Gene Symbol: STK36
STK36 		0.300 GermlineCausalMutation disease ORPHANET Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983 2017
Entrez Id: 83538
Gene Symbol: TTC25
TTC25 		0.300 GermlineCausalMutation disease ORPHANET TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. 27486780 2016
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		0.300 GermlineCausalMutation disease ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		0.300 GermlineCausalMutation disease ORPHANET Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. 23891471 2013