ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132 2017
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421 2016
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318 2016
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421 2016
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698 2015
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714 2015
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714 2015
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698 2015
dbSNP: rs797044890
rs797044890
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236 2014
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. 25125236 2014
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856 2013
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. 23885231 2013
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435 2013
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 23494856 2013
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435 2013
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. 23885231 2013
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 21782149 2011
dbSNP: rs1555529572
rs1555529572
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 21782149 2011
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801 2007
dbSNP: rs1555528558
rs1555528558
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease:
Multiple congenital anomalies 		CT 0.700 CausalMutation CLINVAR KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. 17230487 2007