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: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE In this review we discuss the role of E6AP in viral infection, viral propagation and viral-related cancer. 31087000 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Stable over-expression of E6-AP increases the proliferation and invasion of LNCaP cells. 26261538 2015
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease BEFREE These fine-mapping data suggest that UBE3A or a closely flanking gene may be a tuberculosis-susceptibility locus. 12075004 2002
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease LHGDN These fine-mapping data suggest that UBE3A or a closely flanking gene may be a tuberculosis-susceptibility locus. 12075004 2002
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 Biomarker disease BEFREE The oscillatory patterns may be linked to molecular pathophysiology of the syndrome involving dysregulation of synaptic neurotransmission through UBE3A-related modulation of functional GABAA receptor complexes. 15659843 2004
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 GeneticVariation disease BEFREE However, AS patients with a deletion of the entire PWS/AS locus often have more severe traits than patients with point mutations in UBE3A suggesting that other genes contribute to the syndrome. 19894069 2010
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		0.100 Biomarker phenotype HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 Biomarker disease BEFREE This UBE3A-MLL4 regulatory axis provides a potential therapeutic venue for treating various MLL4-directed pathogeneses, including obesity and hepatic steatosis. 30230575 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE E6AP/p53 binding was also demonstrated in two feline SCC cell lines expressing FcaPV-2 E6, where p53 protein levels and poly-ubiquitination degree were proportional to E6 mRNA levels. 30510267 2018
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.010 Biomarker disease BEFREE Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. 10624951 1999
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.010 Biomarker group BEFREE UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment. 30690483 2019
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease BEFREE Disruption of the maternal copy of E6-AP is correlated with Angelman syndrome (AS), a genetic neurological disorder characterized by severe mental retardation, seizures, speech impairment, and other symptoms. 9891052 1999
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.160 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.160 GeneticVariation phenotype BEFREE AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3A (UBE3A), but it is unclear how this genetic insult confers vulnerability to seizure development and progression (i.e., epileptogenesis). 30352049 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.160 Biomarker phenotype BEFREE We provide preclinical evidence that viral-vector-based chemogenetic activation of, or restoration of Cbln1 in, VTA glutamatergic neurons reverses the sociability deficits induced by Ube3a and/or seizures. 28297715 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.160 Biomarker phenotype BEFREE At present, treatment of symptoms such as seizures is the only medical strategy, but genetic therapies aimed at activating the silent copy of UBE3A on the paternal allele are conceivable. 27615419 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.160 CausalMutation phenotype CLINVAR