UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; N. variants: 5
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 1 4 0.700 definitive 1.000 7 4 2006 2018
CUI: C4022516
Disease: Lower extremity joint dislocation
Lower extremity joint dislocation
phenotype Musculoskeletal Diseases; Wounds and Injuries Finding 1 0.100 None 0
CUI: C4023130
Disease: Lumbar hypertrichosis
Lumbar hypertrichosis
phenotype Skin and Connective Tissue Diseases Finding 1 0.100 None 0
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology
phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C4021573
Disease: Patchy hypo- and hyperpigmentation
Patchy hypo- and hyperpigmentation
disease Disease or Syndrome 3 0.100 None 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin
disease Anatomical Abnormality 4 0.100 None 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl
phenotype Finding 5 0.100 None 0
Hypointensity of cerebral white matter on MRI
phenotype Pathological Conditions, Signs and Symptoms Finding 6 1 0.100 None 0
Recurrent cutaneous abscess formation
phenotype Finding 6 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C1859680
Disease: Broad face
Broad face
phenotype Finding 14 0.100 None 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 16 6 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype Finding 17 1 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 22 10 0.100 None 0
Peripheral pulmonary artery stenosis
disease Cardiovascular Diseases Disease or Syndrome 23 3 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes
disease Anatomical Abnormality 30 0.100 None 0
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 15 0.100 None 0
CUI: C0013528
Disease: Echolalia
Echolalia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 39 4 0.100 None 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 40 5 0.100 None 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
phenotype Finding 40 1 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges
phenotype Finding 41 10 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 42 5 0.100 None 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0
CUI: C0920299
Disease: Overriding toe
Overriding toe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0