ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 149; N. variants: 29
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: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 3 2 0.100 None 1.000 1 1 2016 2016
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		disease Anatomical Abnormality 2 2 0.100 None 1.000 1 2 2016 2016
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 1.000 1 1 2016 2016
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 1.000 1 1 2016 2016
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 1.000 1 1 2016 2016
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 1.000 1 1 2016 2016
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 1.000 1 1 2016 2016
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 1.000 1 1 2016 2016
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 7 3 0.100 None 1.000 1 1 2016 2016
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 1.000 1 1 2016 2016
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		phenotype Anatomical Abnormality 4 3 0.100 None 1.000 1 1 2016 2016
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 1.000 1 1 2016 2016
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 1.000 1 1 2016 2016
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 1.000 1 2 2016 2016
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 1.000 1 1 2016 2016
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 1.000 1 1 2016 2016
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 1.000 1 1 2016 2016
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 1.000 1 1 2016 2016
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 1.000 1 1 2016 2016
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 1.000 1 1 2016 2016
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 1.000 1 1 2016 2016