ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: KBG syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CTD_human
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. 28250421 2017
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. 28250421 2017
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE ANKRD11 thus serves as a candidate tumor suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in KBG syndrome patients. 29696793 2018
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation disease CLINVAR Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed. 27605097 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed. 27605097 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed. 27605097 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda. 17986521 2008
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. 25556659 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation disease CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. 24838796 2014
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation disease CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. 25543316 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Here, we present a patient with clinically confirmed KBG syndrome carrying a de novo 690-kb deletion at 16q24.3 involving part of ANKRD11. 23463723 2013
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN Herein, we discuss a Korean family with KBG syndrome, as identified by ANKRD11 gene mutation. 25464108 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease CLINGEN In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. 28449295 2017
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. 28449295 2017
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE In addition, microdeletion of 16q24.3, including ANKRD11, has been reported to result in the KBG syndrome phenotype. 25464108 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome. 22307766 2012
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. 30642272 2019
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. 28422132 2017
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE Our findings demonstrate a novel role for ANKRD11 in neuron differentiation during brain development and suggest an epigenetic modification as a potential key molecular feature underlying KBG syndrome. 29274743 2018