adisease

Showing entry for Triglyceride storage disease with ichthyosis

General Disease Information
BXGD Id	BXGD005862
Disease Name	Triglyceride storage disease with ichthyosis
Disease CUI Id	C0268238
MeSH Codes	C16 C18 C17 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id
Human Phenotype Ontology Term
Disease Ontology Id	DOID:0014667 DOID:630
Disease Ontology Class Name	disease of metabolism; 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
O60240	BXGT004860	Perilipin-1	5346	reviewed
O75164	BXGT005104	Lysine-specific demethylase 4A	9682	reviewed
O76082	BXGT005175	Solute carrier family 22 member 5	6584	reviewed	Transporter
P01009	BXGT005714	Alpha-1-antitrypsin	5265	reviewed	Enzyme modulator
P01019	BXGT005717	Angiotensinogen	183	reviewed	Enzyme modulator
P01579	BXGT005770	Interferon gamma	3458	reviewed
P02647	BXGT005908	Apolipoprotein A-I	335	reviewed
P02766	BXGT005953	Transthyretin	7276	reviewed	Transporter
P03372	BXGT006059	Estrogen receptor	2099	reviewed	Nuclear receptor
P08514	BXGT006781	Integrin alpha-IIb	3674	reviewed
P09619	BXGT006911	Platelet-derived growth factor receptor beta	5159	reviewed	Kinase
P11802	BXGT007750	Cyclin-dependent kinase 4	1019	reviewed	Kinase
P23786	BXGT008906	Carnitine O-palmitoyltransferase 2, mitochondrial	1376	reviewed	Enzyme
P24385	BXGT008965	G1/S-specific cyclin-D1	595	reviewed	Enzyme modulator
P29965	BXGT009388	CD40 ligand	959	reviewed	Signaling
P31151	BXGT009510	Protein S100-A7	6278	reviewed	Calcium-binding protein
P33681	BXGT009739	T-lymphocyte activation antigen CD80	941	reviewed
P38117	BXGT010027	Electron transfer flavoprotein subunit beta	2109	reviewed	Enzyme
Q00987	BXGT012559	E3 ubiquitin-protein ligase Mdm2	4193	reviewed	Nucleic acid binding
Q8WTS1	BXGT018985	1-acylglycerol-3-phosphate O-acyltransferase ABHD5	51099	reviewed
Q9NW15	BXGT021229	Anoctamin-10	55129	reviewed
Q16134	BXGT022664	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial	2110	reviewed	Enzyme
P41271	BXGT022908	Neuroblastoma suppressor of tumorigenicity 1	4681	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}