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 Biomarker disease CLINGEN Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. 21782149 2011
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 We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. 25424714 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Three de novo mutations were identified in ANKRD11 demonstrating a phenotypic overlap with KBG syndrome. 25125236 2014
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 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 Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. 30088855 2018
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. 30877071 2019
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 Biomarker disease GENOMICS_ENGLAND Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. 21782149 2011
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 Biomarker disease BEFREE This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism. 25187894 2014
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 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 CausalMutation disease CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
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 GeneticVariation disease BEFREE We report on a patient, who showed many manifestations of KBG syndrome and was found to harbor a de novo ANKRD11 mutation, c.362T > A (p.Met121Lys). 23369839 2013
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 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 GeneticVariation disease BEFREE Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations. 23184435 2013
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 Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. 25543316 2015
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. 30088855 2018
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation disease BEFREE Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. 21782149 2011