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: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		disease Disease or Syndrome 1 17 0.760 None 1.000 8 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: 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: 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: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		phenotype Anatomical Abnormality 2 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 3 2 0.100 None 1.000 1 1 2016 2016
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		phenotype Finding 3 0.100 None 0
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad 		phenotype Anatomical Abnormality 4 3 0.100 None 1.000 1 1 2016 2016
CUI: C4022387
Disease: Recurrent hand flapping
Recurrent hand flapping 		disease Mental Disorders Mental or Behavioral Dysfunction 4 0.100 None 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 15 0.030 None 0.667 3 2015 2017
CUI: C1839816
Disease: Long neck
Long neck 		phenotype Finding 7 3 0.100 None 1.000 1 1 2016 2016
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.100 None 1.000 1 1 2016 2016
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		disease Musculoskeletal Diseases Anatomical Abnormality 9 2 0.100 None 1.000 1 1 2016 2016
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 10 15 0.010 None 1.000 1 2018 2018
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		phenotype Pathologic Function 10 10 0.100 None 1.000 1 1 2016 2016
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 11 3 0.020 None 0.500 2 2015 2016
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		phenotype Musculoskeletal Diseases Finding 12 2 0.100 None 1.000 1 1 2016 2016
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		phenotype Finding 13 2 0.100 None 1.000 1 1 2016 2016
CUI: C1305740
Disease: Overbite
Overbite 		disease Stomatognathic Diseases Anatomical Abnormality 13 5 0.100 None 0 1
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 17 1 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 1.000 1 1 2016 2016
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 27 6 0.100 None 1.000 1 1 2016 2016
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 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 28 5 0.100 None 1.000 1 1 2016 2016
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 29 2 0.100 None 0