×
Entrez Id:
10309
Gene Symbol:
CCNO
CCNO
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
24747639
2014
×
Entrez Id:
115948
Gene Symbol:
CCDC151
CCDC151
0.300
GermlineCausalMutation
disease
ORPHANET
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
25192045
2014
×
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:
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:
10309
Gene Symbol:
CCNO
CCNO
0.300
GermlineCausalMutation
disease
ORPHANET
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
24824133
2015
×
Entrez Id:
25981
Gene Symbol:
DNAH1
DNAH1
0.300
GermlineCausalMutation
disease
ORPHANET
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
25927852
2015
×
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:
374407
Gene Symbol:
DNAJB13
DNAJB13
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
27486783
2016
×
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:
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:
85016
Gene Symbol:
CFAP300
CFAP300
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
29727693
2018
×
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:
1770
Gene Symbol:
DNAH9
DNAH9
0.300
GermlineCausalMutation
disease
ORPHANET
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
30471718
2018
×
Entrez Id:
85016
Gene Symbol:
CFAP300
CFAP300
0.300
GermlineCausalMutation
disease
ORPHANET
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
29727692
2018
×
Entrez Id:
1770
Gene Symbol:
DNAH9
DNAH9
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
30471717
2018
×
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:
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:
200373
Gene Symbol:
CFAP221
CFAP221
0.300
GermlineCausalMutation
disease
ORPHANET
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
31636325
2020
×
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