adisease

Showing entry for Pfaundler-Hurler Syndrome

General Disease Information
BXGD Id	BXGD003311
Disease Name	Pfaundler-Hurler Syndrome
Disease CUI Id	C0086795
MeSH Codes	C16 C18 C17
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0000924
Human Phenotype Ontology Term	Abnormality of the skeletal system
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
A0A024RAV5	BXGT000013	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b	3845	unreviewed
O00754	BXGT003944	Lysosomal alpha-mannosidase	4125	reviewed
P01116	BXGT005733	GTPase KRas	3845	reviewed	Enzyme modulator
P04040	BXGT006132	Catalase	847	reviewed	Enzyme
P04066	BXGT006142	Tissue alpha-L-fucosidase	2517	reviewed
P08236	BXGT006752	Beta-glucuronidase	2990	reviewed
P10619	BXGT007589	Lysosomal protective protein	5476	reviewed	Enzyme
P11362	BXGT007693	Fibroblast growth factor receptor 1	2260	reviewed	Kinase
P15531	BXGT008136	Nucleoside diphosphate kinase A	4830	reviewed	Kinase
P15735	BXGT008151	Phosphorylase b kinase gamma catalytic chain, liver/testis isoform	5261	reviewed	Kinase
P15848	BXGT008162	Arylsulfatase B	411	reviewed
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P20933	BXGT008618	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	175	reviewed	Enzyme
P22304	BXGT008752	Iduronate 2-sulfatase	3423	reviewed
P33981	BXGT009744	Dual specificity protein kinase TTK	7272	reviewed	Kinase
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P51688	BXGT010883	N-sulphoglucosamine sulphohydrolase	6448	reviewed	Enzyme
P54802	BXGT011081	Alpha-N-acetylglucosaminidase	4669	reviewed
Q2M385	BXGT014131	Macrophage-expressed gene 1 protein	219972	reviewed
Q8NBK3	BXGT018538	Formylglycine-generating enzyme	285362	reviewed
Q96AX1	BXGT019620	Vacuolar protein sorting-associated protein 33A	65082	reviewed	Transporter
Q99519	BXGT019928	Sialidase-1	4758	reviewed	Enzyme
Q9Y223	BXGT022207	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	10020	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}