UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
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: C2675336
Disease: Duplication 15q11-q13 Syndrome
Duplication 15q11-q13 Syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 1 2015 2015
CUI: C1839749
Disease: Paroxysmal bursts of laughter
Paroxysmal bursts of laughter
phenotype Finding 4 0.100 None 0
CUI: C0795858
Disease: Chromosome 15q, trisomy
Chromosome 15q, trisomy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.030 None 1.000 3 2013 2019
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head
disease Anatomical Abnormality 9 0.010 None 1.000 1 1999 1999
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance
phenotype Finding 10 0.100 None 0
CUI: C0239801
Disease: Blonde hair
Blonde hair
phenotype Finding 13 0.100 None 0
CUI: C0742034
Disease: cerebellar function
cerebellar function
disease Disease or Syndrome 14 0.010 None 1.000 1 2008 2008
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2015 2015
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype Finding 17 5 0.100 None 0
CUI: C4551520
Disease: Intention tremor
Intention tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.010 None < 0.001 1 2008 2008
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 3 0.100 None 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2019 2019
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue
phenotype Finding 27 4 0.100 None 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 0 1
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 2005 2005
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2018 2018
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
Intellectual disability, progressive
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0233844
Disease: Clumsiness
Clumsiness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2011 2011
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C0014599
Disease: Epithelial hyperplasia
Epithelial hyperplasia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 0.010 None 1.000 1 2010 2010
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0