ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 20 10 1984 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 4 4 2012 2019
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 1.000 2 2 2012 2015
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 1.000 2 2 2012 2015
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 1.000 2 1 2012 2015
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 1.000 2 1 2012 2015
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
phenotype Finding 21 2 0.100 None 1.000 2 1 2012 2015
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 1.000 2 1 2012 2015
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 1.000 2 5 2012 2015
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 1.000 2 1 2012 2015
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
phenotype Finding 13 1 0.100 None 1.000 2 1 2012 2015
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth
phenotype Finding 14 2 0.100 None 1.000 2 1 2012 2015
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism
phenotype Finding 1 1 0.100 None 1.000 2 1 2012 2015
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 83 17 0.100 None 1.000 2 5 2012 2015
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype Finding 11 1 0.100 None 1.000 2 1 2012 2015
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 1.000 2 3 2012 2015
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness
phenotype Finding 57 4 0.100 None 1.000 2 1 2012 2015
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 1.000 2 7 2012 2015
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 1.000 2 1 2012 2015
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development
phenotype Finding 19 13 0.100 None 1.000 2 1 2012 2015
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris
disease Disease or Syndrome 5 3 0.100 None 1.000 2 1 2012 2015
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
phenotype Laboratory Procedure 23 71 0.100 None 1.000 1 1 2013 2013
CUI: C0428302
Disease: Calcium level result
Calcium level result
phenotype Laboratory or Test Result 14 51 0.100 None 1.000 1 1 2013 2013
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018