adisease

Showing entry for Shprintzen syndrome

　　　　　　　　　　　　　　　　

General Disease Information
BXGD Id	BXGD004327
Disease Name	Shprintzen syndrome
Disease CUI Id	C0220704
MeSH Codes	C16 C05 C19 C15 C14
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic 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
O14791	BXGT004101	Apolipoprotein L1	8542	reviewed	Transporter
O15119	BXGT004128	T-box transcription factor TBX3	6926	reviewed	Transcription factor
O43246	BXGT004577	Cationic amino acid transporter 4	6545	reviewed	Transporter
O43272	BXGT004580	Proline dehydrogenase 1, mitochondrial	5625	reviewed	Enzyme
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P15289	BXGT008102	Arylsulfatase A	410	reviewed	Enzyme
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P25101	BXGT009018	Endothelin-1 receptor	1909	reviewed	G-protein coupled receptor
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P43487	BXGT010393	Ran-specific GTPase-activating protein	5902	reviewed	Enzyme modulator
Q00610	BXGT012539	Clathrin heavy chain 1	1213	reviewed	Transporter
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q99593	BXGT019939	T-box transcription factor TBX5	6910	reviewed	Transcription factor

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}