Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.100 CausalMutation disease CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.100 CausalMutation disease CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994 2013
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.100 CausalMutation disease CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057 2013
Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1 		0.100 CausalMutation disease CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787 2011
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1 		0.100 CausalMutation disease CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400 2009
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1 		0.100 CausalMutation disease CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405 2009
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.100 GeneticVariation disease CLINVAR
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
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: 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: 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: 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: 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: 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: 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: 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