Gene: CCDC151
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1480671731 in
CCDC151 gene and
CILIARY DYSKINESIA, PRIMARY, 30
PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
rs587777779 in
CCDC151 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
rs1555721837 in
CCDC151 gene and
Dysmorphic features
PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
PMID 14656747 2004 Primary ciliary dyskinesia: diagnostic and phenotypic features.
PMID 24577564 2014 Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
PMID 8071978 1994 Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
PMID 12627427 2003 Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
PMID 9298603 1997 Treatment of otitis media with effusion in children with primary ciliary dyskinesia.
PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
rs1555721837 in
CCDC151 gene and
Muscle hypotonia
PMID 8071978 1994 Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
PMID 12627427 2003 Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
PMID 25192045 2014 CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
PMID 14656747 2004 Primary ciliary dyskinesia: diagnostic and phenotypic features.
PMID 24577564 2014 Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
PMID 9298603 1997 Treatment of otitis media with effusion in children with primary ciliary dyskinesia.
PMID 25224326 2014 Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.