UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 66; N. variants: 2
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.
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
disease Disease or Syndrome 3 2 0.700 2 2 2006 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.460 strong 0.833 6 1 2010 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.130 1.000 3 2010 2014
CUI: C0024433
Disease: Macrostomia
Macrostomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 103 1 0.110 1.000 1 2014 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2010 2010
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl
phenotype Finding 5 0.100 0
CUI: C3550546
Disease: Depressed nasal root/bridge
Depressed nasal root/bridge
phenotype Finding 274 0.100 0
CUI: C2673410
Disease: Small midface
Small midface
phenotype Finding 157 1 0.100 0
CUI: C1867131
Disease: Broad hallux
Broad hallux
phenotype Finding 38 0.100 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 84 1 0.100 0
CUI: C1859680
Disease: Broad face
Broad face
phenotype Finding 12 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 67 1 0.100 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 9 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
Hypointensity of cerebral white matter on MRI
phenotype Finding 6 1 0.100 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin
phenotype Anatomical Abnormality 1 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C4280651
Disease: Hypotrophic malar bone
Hypotrophic malar bone
phenotype Finding 159 0.100 0
CUI: C4280639
Disease: Hyperplasia of supraorbital margins
Hyperplasia of supraorbital margins
phenotype Finding 29 0.100 0
CUI: C4280638
Disease: Hyperplasia of supraorbital ridge
Hyperplasia of supraorbital ridge
phenotype Finding 29 0.100 0
CUI: C4280637
Disease: Hypertrophy of supraorbital margins
Hypertrophy of supraorbital margins
phenotype Finding 29 0.100 0