ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		phenotype Finding 2 1 0.100 None 0
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 46 0.800 definitive 1.000 30 45 2008 2019
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 3 0.100 None 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		phenotype Finding 5 2 0.100 None 0
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 7 0.010 None 1.000 1 2013 2013
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		phenotype Finding 7 1 0.100 None 0
CUI: C1835095
Disease: Macrodontia of permanent maxillary central incisor
Macrodontia of permanent maxillary central incisor 		phenotype Finding 8 1 0.100 None 0 1
CUI: C3830518
Disease: Diabetic embryopathy
Diabetic embryopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 0 1
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		phenotype Finding 11 4 0.100 None 0 1
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 1 0.130 None 1.000 3 2015 2017
CUI: C0302845
Disease: MCV - raised
MCV - raised 		phenotype Finding 12 1 0.100 None 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		phenotype Finding 16 8 0.100 None 0 1
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.100 None 0 1
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2017 2017
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.100 None 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		phenotype Musculoskeletal Diseases Finding 21 4 0.100 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0 1