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: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		disease Disease or Syndrome 1 17 0.760 None 1.000 1 17 2013 2019
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		phenotype Finding 1 1 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: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		disease Anatomical Abnormality 1 2 0.100 None 1.000 1 2 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: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		phenotype Pathologic Function 9 10 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: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 1.000 1 1 2016 2016
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.130 None 0.667 0 1 2013 2019
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 10 13 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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 103 131 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: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 13 20 0.100 None 1.000 1 1 2016 2016
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 44 76 0.100 None 0 1
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: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 30 38 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: 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
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: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 16 18 0.100 None 1.000 1 1 2016 2016
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 2 2 0.100 None 1.000 1 1 2016 2016
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