×
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
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: 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: 51364
Gene Symbol: ZMYND10
ZMYND10
Ciliary Motility Disorders
0.100
CausalMutation
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: 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: 151613
Gene Symbol: TTC14
TTC14
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 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: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23993197 2013
×
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
24307375 2014
×
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
19200523 2009
×
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.
22384920 2012
×
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
25789548 2015
×
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
22448264 2012
×
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23993197 2013
×
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
19200523 2009
×
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
23798057 2013
×
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
24518672 2014
×
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23993197 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: 89765
Gene Symbol: RSPH1
RSPH1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
26139845 2015
×
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
24568568 2014
×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
9399904 1997
×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
10937588 2000