rs886041125, ANKRD11

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
0.700 CausalMutation CLINVAR Clinical and genetic aspects of KBG syndrome. 27667800 2016
Short palm
CUI: C1843108
Disease: Short palm
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
0.700 GeneticVariation CLINVAR
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
0.700 GeneticVariation CLINVAR
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
0.700 GeneticVariation CLINVAR
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Unilateral Cryptorchidism
CUI: C0431664
Disease: Unilateral Cryptorchidism
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR