adisease

Showing entry for Williams Syndrome

General Disease Information
BXGD Id	BXGD004008
Disease Name	Williams Syndrome
Disease CUI Id	C0175702
MeSH Codes	C16 C10 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular 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
O00151	BXGT003885	PDZ and LIM domain protein 1	9124	reviewed	Cellular structure
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
P01009	BXGT005714	Alpha-1-antitrypsin	5265	reviewed	Enzyme modulator
P01189	BXGT005742	Pro-opiomelanocortin	5443	reviewed
P04792	BXGT006264	Heat shock protein beta-1	3315	reviewed
P05155	BXGT006328	Plasma protease C1 inhibitor	710	reviewed	Enzyme modulator
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P12004	BXGT007766	Proliferating cell nuclear antigen	5111	reviewed	Nucleic acid binding
P12931	BXGT007859	Proto-oncogene tyrosine-protein kinase Src	6714	reviewed	Kinase
P14598	BXGT008024	Neutrophil cytosol factor 1	653361	reviewed
P14867	BXGT008061	Gamma-aminobutyric acid receptor subunit alpha-1	2554	reviewed	Ion channel
P17028	BXGT008276	Zinc finger protein 24	7572	reviewed
P28300	BXGT009243	Protein-lysine 6-oxidase	4015	reviewed
P30988	BXGT009491	Calcitonin receptor	799	reviewed	G-protein coupled receptor
P35555	BXGT009845	Fibrillin-1	2200	reviewed	Calcium-binding protein
P49711	BXGT010728	Transcriptional repressor CTCF	10664	reviewed	Transcription factor
P53667	BXGT011008	LIM domain kinase 1	3984	reviewed	Kinase
P54278	BXGT011038	Mismatch repair endonuclease PMS2	5395	reviewed	Nucleic acid binding
P54289	BXGT011040	Voltage-dependent calcium channel subunit alpha-2/delta-1	781	reviewed	Ion channel
P60709	BXGT011322	Actin, cytoplasmic 1	60	reviewed	Cellular structure
P78352	BXGT011836	Disks large homolog 4	1742	reviewed	Receptor
P80511	BXGT011914	Protein S100-A12	6283	reviewed	Calcium-binding protein
Q01453	BXGT012588	Peripheral myelin protein 22	5376	reviewed	Cellular structure
Q06787	BXGT012890	Synaptic functional regulator FMR1	2332	reviewed	Nucleic acid binding
Q13467	BXGT013358	Frizzled-5	7855	reviewed	G-protein coupled receptor
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q14191	BXGT013452	Werner syndrome ATP-dependent helicase	7486	reviewed	Enzyme
Q15056	BXGT013529	Eukaryotic translation initiation factor 4H	7458	reviewed	Nucleic acid binding
Q15080	BXGT013535	Neutrophil cytosol factor 4	4689	reviewed
Q16698	BXGT013659	2,4-dienoyl-CoA reductase, mitochondrial	1666	reviewed	Enzyme
Q8WWY3	BXGT019006	U4/U6 small nuclear ribonucleoprotein Prp31	26121	reviewed	Nucleic acid binding
Q96HC4	BXGT019671	PDZ and LIM domain protein 5	10611	reviewed	Cellular structure
Q9BY08	BXGT020177	Emopamil-binding protein-like	84650	reviewed	Enzyme
Q9H1D0	BXGT020445	Transient receptor potential cation channel subfamily V member 6	55503	reviewed	Ion channel
Q9NR56	BXGT021179	Muscleblind-like protein 1	4154	reviewed	Nucleic acid binding
P16104	BXGT024571	Histone H2AX	3014	reviewed	Nucleic acid binding
Q96L73	BXGT024676	Histone-lysine N-methyltransferase, H3 lysine-36 specific	64324	reviewed	Epigenetic regulator
Q9UGM3	BXGT025543	Deleted in malignant brain tumors 1 protein	1755	reviewed	Enzyme
P35250	BXGT025854	Replication factor C subunit 2	5982	reviewed	Enzyme

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}