adisease

Showing entry for Type II Mucolipidosis

General Disease Information
BXGD Id	BXGD001465
Disease Name	Type II Mucolipidosis
Disease CUI Id	C0020725
MeSH Codes	C16 C18 C05 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Semantic Type	Disease or Syndrome
Human Phenotype Ontology Id	HP:0001939 HP:0025354
Human Phenotype Ontology Term	Abnormality of metabolism/homeostasis; Abnormal cellular phenotype
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
P00750	BXGT005642	Tissue-type plasminogen activator	5327	reviewed	Enzyme
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P01584	BXGT005772	Interleukin-1 beta	3553	reviewed
P02545	BXGT005889	Prelamin-A/C	4000	reviewed
P05231	BXGT006345	Interleukin-6	3569	reviewed
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P07711	BXGT006661	Cathepsin L1	1514	reviewed	Enzyme
P07741	BXGT006666	Adenine phosphoribosyltransferase	353	reviewed
P08236	BXGT006752	Beta-glucuronidase	2990	reviewed
P08887	BXGT006835	Interleukin-6 receptor subunit alpha	3570	reviewed	Signaling
P11309	BXGT007685	Serine/threonine-protein kinase pim-1	5292	reviewed	Kinase
P11717	BXGT007740	Cation-independent mannose-6-phosphate receptor	3482	reviewed	Receptor
P13500	BXGT007916	C-C motif chemokine 2	6347	reviewed	Signaling
P15559	BXGT008139	NAD(P)H dehydrogenase [quinone] 1	1728	reviewed
P19174	BXGT008467	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1	5335	reviewed	Enzyme
P20930	BXGT008616	Filaggrin	2312	reviewed	Cellular structure
P27797	BXGT009206	Calreticulin	811	reviewed	Calcium-binding protein
P30988	BXGT009491	Calcitonin receptor	799	reviewed	G-protein coupled receptor
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P48029	BXGT010606	Sodium- and chloride-dependent creatine transporter 1	6535	reviewed	Transporter
P63092	BXGT011495	Guanine nucleotide-binding protein G(s) subunit alpha isoforms short	2778	reviewed
Q01959	BXGT012624	Sodium-dependent dopamine transporter	6531	reviewed	Transporter
Q5VWK5	BXGT015891	Interleukin-23 receptor	149233	reviewed	Signaling
Q92736	BXGT019367	Ryanodine receptor 2	6262	reviewed	Ion channel
Q9GZX6	BXGT020428	Interleukin-22	50616	reviewed
Q9H3H5	BXGT020461	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	1798	reviewed	Enzyme
P19875	BXGT023294	C-X-C motif chemokine 2	2920	reviewed	Signaling
O60502	BXGT023392	Protein O-GlcNAcase	10724	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}