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: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism
phenotype Finding 1 1 0.100 None 1.000 2 1 2012 2015
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C4021006
Disease: Short distal phalanx of the 5th toe
Short distal phalanx of the 5th toe
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
Congenital talipes calcaneovalgus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.100 None 0 1
CHROMOSOME 6q24-q25 DELETION SYNDROME
disease Disease or Syndrome 2 0.300 None 1.000 1 2012 2012
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter
disease Congenital Abnormality 3 1 0.100 None 0 1
CUI: C1859115
Disease: Prominent interphalangeal joints
Prominent interphalangeal joints
phenotype Finding 4 0.100 None 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris
disease Disease or Syndrome 5 3 0.100 None 1.000 2 1 2012 2015
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 6 61 0.600 None 1.000 5 59 2012 2019
Short distal phalanx of the 5th finger
phenotype Finding 6 2 0.100 None 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis
phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0
Congenital malformation of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 9 0.010 None 1.000 1 2019 2019
CUI: C0575497
Disease: Short sternum
Short sternum
phenotype Finding 9 0.100 None 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding)
phenotype Finding 10 1 0.100 None 0
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
phenotype Finding 10 0.100 None 0
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
disease Anatomical Abnormality 10 0.100 None 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype Finding 11 1 0.100 None 1.000 2 1 2012 2015
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 11 6 0.100 None 0 1
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay
disease Mental or Behavioral Dysfunction 11 7 0.100 None 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail
disease Anatomical Abnormality 11 3 0.100 None 0
CUI: C0277960
Disease: Dry hair
Dry hair
phenotype Finding 12 2 0.100 None 0 1
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail
disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
phenotype Finding 13 1 0.100 None 1.000 2 1 2012 2015
Subcutaneous panniculitis-like T-cell lymphoma
disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 2 0.010 None 1.000 1 2020 2020
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip
phenotype Finding 13 4 0.100 None 0 1