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.
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes
disease Anatomical Abnormality 30 0.100 None 0
Hypointensity of cerebral white matter on MRI
phenotype Pathological Conditions, Signs and Symptoms Finding 6 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
Recurrent cutaneous abscess formation
phenotype Finding 6 0.100 None 0
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: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin
disease Anatomical Abnormality 4 0.100 None 0
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology
phenotype Anatomical Abnormality 2 1 0.100 None 0
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 22 10 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 86 11 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype Finding 17 1 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1859680
Disease: Broad face
Broad face
phenotype Finding 14 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1867131
Disease: Broad hallux
Broad hallux
phenotype Finding 48 14 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
phenotype Finding 40 1 0.100 None 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.100 None 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 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