Condition: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
rs587777047 in
ARMC4 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 23849778 2013 ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
rs147718607 in
CCDC114 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
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.
rs267607227 in
DNAAF1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
rs137853191 in
DNAAF2 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 19052621 2008 Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
rs544674332 in
DNAH1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 25927852 2015 Variation in DNAH1 may contribute to primary ciliary dyskinesia.
rs771663107 in
DNAH5 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
rs200669099 in
DNAI1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.
PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
rs387907021 in
DNAL1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 21496787 2011 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
rs397515363 in
FAM219A;DNAI1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
rs760123202 in
LRRC6 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
rs138320978 in
RSPH1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 24568568 2014 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
rs797045147 in
RSPH4A gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 24824133 2015 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
rs201740530 in
SPAG1 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 24055112 2013 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
rs138815960 in
ZMYND10 gene and
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.