ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 93; N. variants: 79
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: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 3 1.000 definitive 1.000 0 3 2012 2020
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 61 0.600 None 1.000 2 59 2012 2019
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 6 6 0.130 None 1.000 0 1 2012 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.120 None 1.000 2 4 2012 2019
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 22 0.120 None 1.000 0 1 2019 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.110 None 1.000 20 10 1984 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 33 0.110 None 1.000 0 2 2019 2019
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 14 22 0.110 None 1.000 0 3 2014 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 21 11 1984 2017
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 21 5 1984 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 162 240 0.100 None 1.000 20 1 1984 2017
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 1.000 2 1 2012 2015
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 2 1 2012 2015
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 20 26 0.100 None 1.000 2 1 2012 2015
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 31 0.100 None 1.000 2 1 2012 2015
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 13 17 0.100 None 1.000 2 5 2012 2015
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 43 49 0.100 None 1.000 2 1 2012 2015
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 1.000 2 2 2012 2015
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism 		phenotype Finding 1 1 0.100 None 1.000 2 1 2012 2015
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 5 10 0.100 None 1.000 2 5 2012 2015
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 8 8 0.100 None 1.000 2 1 2012 2015
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 6 0.100 None 1.000 2 2 2012 2015
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 44 76 0.100 None 1.000 2 1 2012 2015
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 2 2 0.100 None 1.000 2 1 2012 2015
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype Finding 1 1 0.100 None 1.000 2 1 2012 2015