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: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		0.100 Biomarker phenotype HPO
CUI: C1837402
Disease: Flat occiput
Flat occiput 		0.100 Biomarker phenotype HPO
CUI: C1839749
Disease: Paroxysmal bursts of laughter
Paroxysmal bursts of laughter 		0.100 Biomarker phenotype HPO
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		0.100 Biomarker phenotype HPO
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 CausalMutation phenotype CLINVAR
CUI: C1849221
Disease: Fair hair
Fair hair 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1853237
Disease: Isolated cases
Isolated cases 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781 1990
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. 2309781 1990