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 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 CLINGEN This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in <i>ANKRD11,</i> thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome. 27900361 2016
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 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 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 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 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 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 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 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 GENOMICS_ENGLAND This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in <i>ANKRD11,</i> thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome. 27900361 2016
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 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 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 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 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 CTD_human
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 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 CLINVAR
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 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 CausalMutation disease CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
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