adisease

Showing entry for Smith-Lemli-Opitz Syndrome

General Disease Information
BXGD Id	BXGD004002
Disease Name	Smith-Lemli-Opitz Syndrome
Disease CUI Id	C0175694
MeSH Codes	C16 C18
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
O75762	BXGT005151	Transient receptor potential cation channel subfamily A member 1	8989	reviewed	Ion channel
O95477	BXGT005383	Phospholipid-transporting ATPase ABCA1	19	reviewed	Transporter
P01130	BXGT005735	Low-density lipoprotein receptor	3949	reviewed
P01189	BXGT005742	Pro-opiomelanocortin	5443	reviewed
P02649	BXGT005909	Apolipoprotein E	348	reviewed
P04035	BXGT006129	3-hydroxy-3-methylglutaryl-coenzyme A reductase	3156	reviewed
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P08100	BXGT006725	Rhodopsin	6010	reviewed	G-protein coupled receptor
P08842	BXGT006830	Steryl-sulfatase	412	reviewed	Enzyme
P08908	BXGT006837	5-hydroxytryptamine receptor 1A	3350	reviewed	G-protein coupled receptor
P27695	BXGT009199	DNA-(apurinic or apyrimidinic site) lyase	328	reviewed
P29475	BXGT009353	Nitric oxide synthase, brain	4842	reviewed
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35228	BXGT009800	Nitric oxide synthase, inducible	4843	reviewed
P37268	BXGT009975	Squalene synthase	2222	reviewed
P45954	BXGT010490	Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial	36	reviewed
Q12791	BXGT013264	Calcium-activated potassium channel subunit alpha-1	3778	reviewed	Ion channel
Q13467	BXGT013358	Frizzled-5	7855	reviewed	G-protein coupled receptor
Q15465	BXGT013573	Sonic hedgehog protein	6469	reviewed
Q8NER1	BXGT018556	Transient receptor potential cation channel subfamily V member 1	7442	reviewed	Ion channel
Q9UBM7	BXGT021657	7-dehydrocholesterol reductase	1717	reviewed	Enzyme
Q9UKU7	BXGT021749	Isobutyryl-CoA dehydrogenase, mitochondrial	27034	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}