ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 9 1 2011 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 9 3 2011 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.110 None 1.000 9 3 2011 2017
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 1.000 1 1 2016 2016
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 8 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 2 2 0.100 None 1.000 1 1 2016 2016
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 6 7 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 17 18 0.100 None 1.000 1 1 2016 2016
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 2 3 0.100 None 1.000 1 1 2016 2016
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 33 50 0.100 None 1.000 1 1 2016 2016
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 31 0.100 None 1.000 1 1 2016 2016
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 5 5 0.100 None 1.000 1 1 2016 2016
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 10 10 0.100 None 1.000 1 1 2016 2016
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 19 24 0.100 None 1.000 1 1 2016 2016
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 8 8 0.100 None 1.000 1 1 2016 2016
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 10 15 0.100 None 1.000 1 1 2016 2016
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 6 7 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 46 72 0.100 None 1.000 1 2 2016 2016
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 17 19 0.100 None 1.000 1 1 2016 2016
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 5 0.100 None 1.000 1 1 2016 2016
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 1.000 1 1 2016 2016
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: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		phenotype Pathologic Function 9 10 0.100 None 1.000 1 1 2016 2016
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 2 2 0.100 None 1.000 1 1 2016 2016