Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation CLINVAR Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed. 27605097

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 CausalMutation 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
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		0.800 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.130 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. 28422132

2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. 25652421

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 27435318

2016
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. 25424714

2015
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. 25413698

2015