adisease

Showing entry for DiGeorge Syndrome

General Disease Information
BXGD Id	BXGD000772
Disease Name	DiGeorge Syndrome
Disease CUI Id	C0012236
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
O15353	BXGT004155	Forkhead box protein N1	8456	reviewed
O43246	BXGT004577	Cationic amino acid transporter 4	6545	reviewed	Transporter
O43272	BXGT004580	Proline dehydrogenase 1, mitochondrial	5625	reviewed	Enzyme
O43464	BXGT004595	Serine protease HTRA2, mitochondrial	27429	reviewed
O94788	BXGT005333	Retinal dehydrogenase 2	8854	reviewed	Enzyme
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P02768	BXGT005955	Serum albumin	213	reviewed	Transporter
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P10415	BXGT007567	Apoptosis regulator Bcl-2	596	reviewed	Signaling
P11274	BXGT007681	Breakpoint cluster region protein	613	reviewed	Enzyme modulator
P13224	BXGT007890	Platelet glycoprotein Ib beta chain	2812	reviewed
P15153	BXGT008090	Ras-related C3 botulinum toxin substrate 2	5880	reviewed	Enzyme modulator
P15289	BXGT008102	Arylsulfatase A	410	reviewed	Enzyme
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P21964	BXGT008714	Catechol O-methyltransferase	1312	reviewed	Enzyme
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P37173	BXGT009970	TGF-beta receptor type-2	7048	reviewed	Kinase
P37840	BXGT010015	Alpha-synuclein	6622	reviewed	Transporter
P41279	BXGT010254	Mitogen-activated protein kinase kinase kinase 8	1326	reviewed	Kinase
P43403	BXGT010385	Tyrosine-protein kinase ZAP-70	7535	reviewed	Kinase
P43487	BXGT010393	Ran-specific GTPase-activating protein	5902	reviewed	Enzyme modulator
P49888	BXGT010756	Estrogen sulfotransferase	6783	reviewed
P60568	BXGT011315	Interleukin-2	3558	reviewed
Q00610	BXGT012539	Clathrin heavy chain 1	1213	reviewed	Transporter
Q02083	BXGT012633	N-acylethanolamine-hydrolyzing acid amidase	27163	reviewed	Enzyme
Q07157	BXGT012920	Tight junction protein ZO-1	7082	reviewed	Cell-cell junction
Q15652	BXGT013587	Probable JmjC domain-containing histone demethylation protein 2C	221037	reviewed
Q5S007	BXGT015650	Leucine-rich repeat serine/threonine-protein kinase 2	120892	reviewed	Kinase
Q92794	BXGT019375	Histone acetyltransferase KAT6A	7994	reviewed	Enzyme
Q99593	BXGT019939	T-box transcription factor TBX5	6910	reviewed	Transcription factor
Q99700	BXGT019949	Ataxin-2	6311	reviewed	Nucleic acid binding
Q9BXM7	BXGT020172	Serine/threonine-protein kinase PINK1, mitochondrial	65018	reviewed	Kinase
Q9UPY3	BXGT021802	Endoribonuclease Dicer	23405	reviewed	Enzyme
Q9Y3I1	BXGT022260	F-box only protein 7	25793	reviewed
Q9Y4D7	BXGT022275	Plexin-D1	23129	reviewed
Q96DA2	BXGT025522	Ras-related protein Rab-39B	116442	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}