Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
KBG syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
hearing impairment
|
0.700 | CausalMutation | CLINVAR | ||||||||
Myalgia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. | 25652421 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. | 25652421 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. | 25413698 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. | 25413698 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Clinical and genetic aspects of KBG syndrome. | 27667800 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Clinical and genetic aspects of KBG syndrome. | 27667800 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. | 17508425 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. | 17508425 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. | 27435318 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. | 27435318 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. | 25424714 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. | 25424714 | 2015 | |||||
Dysmorphic features
|
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 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. | 28422132 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. | 28422132 | 2017 | |||||
Dysmorphic features
|
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 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. | 15184363 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. | 15184363 | 2004 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | KBG syndrome in a cohort of Italian patients. | 15523620 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | KBG syndrome in a cohort of Italian patients. | 15523620 | 2004 |