ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220687
Disease: KBG syndrome
KBG syndrome
0.800 GeneticVariation disease CLINVAR
CUI: C0220687
Disease: KBG syndrome
KBG syndrome
0.800 Biomarker disease CTD_human
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome
0.300 ChromosomalRearrangement disease ORPHANET
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.150 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.140 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.130 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.130 Biomarker disease HPO
CUI: C0266036
Disease: Macrodontia
Macrodontia
0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 CausalMutation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.110 Biomarker disease HPO
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 CausalMutation disease CLINVAR
CUI: C0004106
Disease: Astigmatism
Astigmatism
0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 GeneticVariation disease CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 Biomarker group HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.100 CausalMutation disease CLINVAR
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices
0.100 CausalMutation disease CLINVAR
CUI: C0014877
Disease: Esotropia
Esotropia
0.100 CausalMutation disease CLINVAR
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.100 CausalMutation phenotype CLINVAR
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 CausalMutation disease CLINVAR