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: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.160 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.160 CausalMutation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.130 Biomarker disease HPO
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 GeneticVariation phenotype CLINVAR
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.130 CausalMutation phenotype CLINVAR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.110 Biomarker disease HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO
CUI: C0003635
Disease: Apraxias
Apraxias 		0.100 Biomarker group HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO