UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.100 Biomarker phenotype HPO
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		0.100 Biomarker phenotype HPO
CUI: C0239801
Disease: Blonde hair
Blonde hair 		0.100 Biomarker phenotype HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.100 Biomarker disease HPO
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		0.100 Biomarker phenotype HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 Biomarker phenotype HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO