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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 CausalMutation 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: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. 23184435

2013