adisease

Showing entry for Angelman Syndrome

General Disease Information
BXGD Id	BXGD003964
Disease Name	Angelman Syndrome
Disease CUI Id	C0162635
MeSH Codes	C16 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:630
Disease Ontology Class Name	genetic disease
Disorder Network	disorder-protein-compound-food associations

The disease-related target proteins

Proteins

Uniport Id	BXGT Id	Protein Name	Gene	Status	Protein Class
Uniport Id	BXGT Id	Protein name	Gene	Status	Protein class
F7VJQ1	BXGT003310	Alternative prion protein	5621	reviewed
O14936	BXGT004114	Peripheral plasma membrane protein CASK	8573	reviewed	Kinase
O43324	BXGT004588	Eukaryotic translation elongation factor 1 epsilon-1	9521	reviewed
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
O76039	BXGT005171	Cyclin-dependent kinase-like 5	6792	reviewed	Kinase
P03372	BXGT006059	Estrogen receptor	2099	reviewed	Nuclear receptor
P04156	BXGT006156	Major prion protein	5621	reviewed
P04637	BXGT006243	Cellular tumor antigen p53	7157	reviewed	Transcription factor
P05067	BXGT006306	Amyloid-beta precursor protein	351	reviewed	Enzyme modulator
P05108	BXGT006317	Cholesterol side-chain cleavage enzyme, mitochondrial	1583	reviewed
P07108	BXGT006551	Acyl-CoA-binding protein	1622	reviewed	Enzyme modulator
P08908	BXGT006837	5-hydroxytryptamine receptor 1A	3350	reviewed	G-protein coupled receptor
P11387	BXGT007696	DNA topoisomerase 1	7150	reviewed	Enzyme
P15884	BXGT008166	Transcription factor 4	6925	reviewed	Transcription factor
P20472	BXGT008578	Parvalbumin alpha	5816	reviewed	Calcium-binding protein
P23528	BXGT008879	Cofilin-1	1072	reviewed
P23560	BXGT008883	Brain-derived neurotrophic factor	627	reviewed	Signaling
P28472	BXGT009260	Gamma-aminobutyric acid receptor subunit beta-3	2562	reviewed	Ion channel
P30531	BXGT009432	Sodium- and chloride-dependent GABA transporter 1	6529	reviewed	Transporter
P31644	BXGT009557	Gamma-aminobutyric acid receptor subunit alpha-5	2558	reviewed	Ion channel
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P43354	BXGT010381	Nuclear receptor subfamily 4 group A member 2	4929	reviewed	Nuclear receptor
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P61086	BXGT011357	Ubiquitin-conjugating enzyme E2 K	3093	reviewed
P63279	BXGT011514	SUMO-conjugating enzyme UBC9	7329	reviewed
Q01726	BXGT012610	Melanocyte-stimulating hormone receptor	4157	reviewed	G-protein coupled receptor
Q01959	BXGT012624	Sodium-dependent dopamine transporter	6531	reviewed	Transporter
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q07157	BXGT012920	Tight junction protein ZO-1	7082	reviewed	Cell-cell junction
Q09472	BXGT013038	Histone acetyltransferase p300	2033	reviewed
Q13547	BXGT013373	Histone deacetylase 1	3065	reviewed	Epigenetic regulator
Q13627	BXGT013385	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	1859	reviewed	Kinase
Q15303	BXGT013557	Receptor tyrosine-protein kinase erbB-4	2066	reviewed	Kinase
Q15751	BXGT013593	Probable E3 ubiquitin-protein ligase HERC1	8925	reviewed	Enzyme modulator
Q7L576	BXGT016995	Cytoplasmic FMR1-interacting protein 1	23191	reviewed	Enzyme modulator
Q92769	BXGT019370	Histone deacetylase 2	3066	reviewed	Epigenetic regulator
Q92793	BXGT019374	CREB-binding protein	1387	reviewed
Q99496	BXGT019925	E3 ubiquitin-protein ligase RING2	6045	reviewed
Q99928	BXGT019975	Gamma-aminobutyric acid receptor subunit gamma-3	2567	reviewed	Ion channel
Q9GZV3	BXGT020427	High affinity choline transporter 1	60482	reviewed	Transporter
Q9UF33	BXGT021676	Ephrin type-A receptor 6	285220	reviewed	Kinase
Q9UKV0	BXGT021750	Histone deacetylase 9	9734	reviewed	Epigenetic regulator
Q9UQM7	BXGT021814	Calcium/calmodulin-dependent protein kinase type II subunit alpha	815	reviewed	Kinase
Q9Y2Q0	BXGT024600	Phospholipid-transporting ATPase IA	10396	reviewed	Transporter
Q9BYE2	BXGT024631	Transmembrane protease serine 13	84000	reviewed	Enzyme
P51608	BXGT025073	Methyl-CpG-binding protein 2	4204	reviewed	Epigenetic regulator
Q05086	BXGT025648	Ubiquitin-protein ligase E3A	7337	reviewed

The disease-related compounds

Compounds

BXGC Id	Compound Name	Structure	Molecular Weight	Number of targets^{?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease}

The disease-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compounds in food^{?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease}