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: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 135 0.100 None 0 1
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 15 19 0.100 None 0 1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 103 131 0.100 None 0 1
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 10 13 0.100 None 0 1
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 18 32 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 13 16 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 0 1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 16 25 0.100 None 0 1
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 33 38 0.100 None 0 1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 44 76 0.100 None 0 1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 9 10 0.100 None 0 1
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 5 5 0.100 None 0 1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 74 93 0.100 None 0 2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 19 24 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: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 31 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: 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: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 5 5 0.100 None 1.000 1 1 2016 2016