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 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 CausalMutation disease CLINVAR 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 GeneticVariation disease UNIPROT 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 GermlineCausalMutation disease ORPHANET 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 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 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 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
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 Biomarker disease BEFREE This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. 23494856 2013
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GermlineCausalMutation disease ORPHANET 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 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 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 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 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 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 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 UNIPROT We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome. 25413698 2015
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 GeneticVariation disease BEFREE We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome. 25413698 2015
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 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 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 BEFREE In addition, microdeletion of 16q24.3, including ANKRD11, has been reported to result in the KBG syndrome phenotype. 25464108 2015