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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4020908
Disease: Hypointensity of cerebral white matter on MRI
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
CUI: C4021957
Disease: Recurrent cutaneous abscess formation
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: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype Finding 40 1 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		phenotype Finding 5 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 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: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 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: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		group Finding 11 1 0.100 None 0