DDX11, DEAD/H-box helicase 11, 1663

N. diseases: 44; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE We report the clinical history of two sisters affected by WABS with a pathological mytomicin C test carrying compound heterozygous mutations (c.2507T > C / c.907_920del) of the DDX11 gene. 30924321 2019
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease BEFREE Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites. 30061412 2018
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease BEFREE Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss. 30216658 2018
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease BEFREE Collectively, our results establish a critical role for the DDX11-Timeless interaction in coordinating DNA replication with sister chromatid cohesion, and have important implications for understanding the molecular basis of WABS. 30303954 2018
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations of human DDX11 are indeed associated with the rare genetic disorder named Warsaw breakage syndrome, showing both chromosomal breakages and chromatid cohesion defects. 30469382 2018
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 CausalMutation disease CLINVAR Warsaw breakage syndrome: Further clinical and genetic delineation. 30216658 2018
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE DDX11 encodes an iron-sulfur-containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date. 28960803 2017
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND We report a new case of Warsaw Breakage syndrome (WABS) with 2 confirmed mutations in DDX11. 25701697 2015
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE We report a new case of Warsaw Breakage syndrome (WABS) with 2 confirmed mutations in DDX11. 25701697 2015
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations in DDX11 (ChlR1) are responsible for Warsaw Breakage syndrome, a recently discovered autosomal recessive cohesinopathy. 23276657 2015
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease UNIPROT Thus, our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS. 26089203 2015
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations in the human ChlR1 (DDX11) gene are associated with a unique genetic disorder known as Warsaw breakage syndrome characterized by cellular defects in genome maintenance. 25561740 2015
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE In 2012, three affected siblings were identified with similar symptoms to the original WABS case, and found to have a homozygous mutation in the conserved Fe-S domain of ChlR1, confirming the genetic linkage. 24487782 2014
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations of the Fe-S helicase ChlR1 (DDX11) are linked to Warsaw Breakage syndrome. 23161009 2013
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease UNIPROT Our findings thus confirm the involvement of DDX11 in WABS, describe its phenotypical spectrum, and provide novel insight into the structural requirement for DDX11 activity. 23033317 2013
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease BEFREE Our findings thus confirm the involvement of DDX11 in WABS, describe its phenotypical spectrum, and provide novel insight into the structural requirement for DDX11 activity. 23033317 2013
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Our findings thus confirm the involvement of DDX11 in WABS, describe its phenotypical spectrum, and provide novel insight into the structural requirement for DDX11 activity. 23033317 2013
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease BEFREE Mutations in the human ChlR1 gene are associated with a unique genetic disorder known as Warsaw breakage syndrome characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. 22102414 2012
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease GENOMICS_ENGLAND Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 20137776 2010
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GermlineCausalMutation disease ORPHANET Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 20137776 2010
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease UNIPROT Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. 20137776 2010
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 GeneticVariation disease CLINVAR
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.800 Biomarker disease CTD_human
CUI: C0333704
Disease: Chromosome Breaks
Chromosome Breaks 		0.300 Biomarker phenotype CTD_human A distinct triplex DNA unwinding activity of ChlR1 helicase. 25561740 2015
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage 		0.300 Biomarker phenotype CTD_human A distinct triplex DNA unwinding activity of ChlR1 helicase. 25561740 2015