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 GeneticVariation 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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation 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: C0024433
Disease: Macrostomia
Macrostomia 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		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: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0578038
Disease: Thin lips
Thin lips 		0.100 GeneticVariation 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: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1843108
Disease: Short palm
Short palm 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		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: C1865014
Disease: Long philtrum
Long philtrum 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		0.100 GeneticVariation CLINVAR

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 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