Gene: DNAH11

Alternate names for this Gene: CILD7|DNAHBL|DNAHC11|DNHBL|DPL11

Gene Summary: This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.3

Description of this Gene: dynein axonemal heavy chain 11

Type of Gene: protein-coding

rs7800783 in DNAH11 gene and Body mass index procedure PMID 19584900 2010 Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

rs2285947 in DNAH11 gene and Carcinoma of lung PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.

rs1175443221 in DNAH11 gene and Ciliary Motility Disorders PMID 18022865 2008 Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

PMID 20513915 2010 New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

PMID 22184204 2012 Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 24450482 2014 Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 22102620 2012 Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

rs7800783 in DNAH11 gene and Finding of body mass index PMID 19584900 2010 Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

rs976517 in DNAH11 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs35803309 in DNAH11 gene and Interleukin 1 Receptor Antagonist Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs56130071 in DNAH11 gene and Low density lipoprotein cholesterol measurement PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs57104699 in DNAH11 gene and Monoclonal Gammopathy of Undetermined Significance PMID 26007630 2015 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

rs10485986 in DNAH11 gene and Multiple Myeloma PMID 22120009 2011 Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.

PMID 23955597 2013 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.

PMID 23502783 2013 The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

PMID 22120009 2011 We identified risk loci for multiple myeloma at 3p22.1 (rs1052501 in ULK4; odds ratio (OR) = 1.32; P = 7.47 × 10(-9)) and 7p15.3 (rs4487645, OR = 1.38; P = 3.33 × 10(-15)).

PMID 26007630 2015 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

rs57104699 in DNAH11 gene and Paraproteinemias PMID 26007630 2015 Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

rs4487645 in DNAH11 gene and Primary amyloidosis PMID 28025584 2017 Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.

rs2285942 in DNAH11 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2285947 in DNAH11 gene and Squamous cell carcinoma PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.

rs2285947 in DNAH11 gene and Stomach Carcinoma PMID 23103227 2012 Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.

rs10499535 in DNAH11 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.