×
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
19944400 2009
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
23255504 2013
×
Entrez Id: 151613
Gene Symbol: TTC14
TTC14
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
23255504 2013
×
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23993197 2013
×
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
24307375 2014
×
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
22693285 2012
×
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
23255504 2013
×
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
25802884 2015
×
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
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
×
Entrez Id: 92749
Gene Symbol: DRC1
DRC1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
23354437 2013
×
Entrez Id: 151613
Gene Symbol: TTC14
TTC14
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
21131972 2011
×
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
18022865 2008
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
21131972 2011
×
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
20513915 2010
×
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
11231901 2001
DNAH8-AS1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
24307375 2014
×
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
16858015 2006
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
21131974 2011
×
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
22184204 2012
×
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
24094744 2013
×
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
22387996 2012
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013