adisease

Showing entry for Gaucher Disease

General Disease Information
BXGD Id	BXGD001105
Disease Name	Gaucher Disease
Disease CUI Id	C0017205
MeSH Codes	C16 C18 C10
Disease Class Name	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
O15118	BXGT004127	NPC intracellular cholesterol transporter 1	4864	reviewed	Transporter
O43451	BXGT004594	Maltase-glucoamylase, intestinal	8972	reviewed	Enzyme
O60260	BXGT004864	E3 ubiquitin-protein ligase parkin	5071	reviewed	Enzyme
O60656	BXGT004889	UDP-glucuronosyltransferase 1-9	54600	reviewed
O75015	BXGT005095	Low affinity immunoglobulin gamma Fc region receptor III-B	2215	reviewed	Cell adhesion
O75469	BXGT005128	Nuclear receptor subfamily 1 group I member 2	8856	reviewed	Nuclear receptor
P00740	BXGT005634	Coagulation factor IX	2158	reviewed	Enzyme
P01031	BXGT005720	Complement C5	727	reviewed	Enzyme modulator
P01375	BXGT005753	Tumor necrosis factor	7124	reviewed	Signaling
P01589	BXGT005773	Interleukin-2 receptor subunit alpha	3559	reviewed	Receptor
P02743	BXGT005937	Serum amyloid P-component	325	reviewed
P02774	BXGT005959	Vitamin D-binding protein	2638	reviewed	Transporter
P02818	BXGT005969	Osteocalcin	632	reviewed
P04062	BXGT006140	Lysosomal acid glucosylceramidase	2629	reviewed
P04792	BXGT006264	Heat shock protein beta-1	3315	reviewed
P05231	BXGT006345	Interleukin-6	3569	reviewed
P06280	BXGT006433	Alpha-galactosidase A	2717	reviewed
P06865	BXGT006516	Beta-hexosaminidase subunit alpha	3073	reviewed	Enzyme
P07339	BXGT006604	Cathepsin D	1509	reviewed	Enzyme
P07602	BXGT006646	Prosaposin	5660	reviewed
P07858	BXGT006689	Cathepsin B	1508	reviewed	Enzyme
P07900	BXGT006696	Heat shock protein HSP 90-alpha	3320	reviewed	Chaperone
P07998	BXGT006711	Ribonuclease pancreatic	6035	reviewed
P08637	BXGT006802	Low affinity immunoglobulin gamma Fc region receptor III-A	2214	reviewed	Cell adhesion
P10147	BXGT007543	C-C motif chemokine 3	6348	reviewed	Signaling
P11473	BXGT007709	Vitamin D3 receptor	7421	reviewed	Nuclear receptor
P12821	BXGT007849	Angiotensin-converting enzyme	1636	reviewed	Enzyme
P13500	BXGT007916	C-C motif chemokine 2	6347	reviewed	Signaling
P13569	BXGT007923	Cystic fibrosis transmembrane conductance regulator	1080	reviewed	Ion channel
P14410	BXGT008009	Sucrase-isomaltase, intestinal	6476	reviewed	Enzyme
P15289	BXGT008102	Arylsulfatase A	410	reviewed	Enzyme
P15692	BXGT008147	Vascular endothelial growth factor A	7422	reviewed	Signaling
P15813	BXGT008158	Antigen-presenting glycoprotein CD1d	912	reviewed
P16278	BXGT008213	Beta-galactosidase	2720	reviewed	Enzyme
P17405	BXGT008304	Sphingomyelin phosphodiesterase	6609	reviewed	Enzyme
P19224	BXGT008468	UDP-glucuronosyltransferase 1-6	54578	reviewed
P21730	BXGT008687	C5a anaphylatoxin chemotactic receptor 1	728	reviewed	G-protein coupled receptor
P22309	BXGT008753	UDP-glucuronosyltransferase 1-1	54658	reviewed
P22310	BXGT008754	UDP-glucuronosyltransferase 1-4	54657	reviewed
P25116	BXGT009025	Proteinase-activated receptor 1	2149	reviewed	G-protein coupled receptor
P25774	BXGT009066	Cathepsin S	1520	reviewed	Enzyme
P28482	BXGT009263	Mitogen-activated protein kinase 1	5594	reviewed	Kinase
P29033	BXGT009308	Gap junction beta-2 protein	2706	reviewed	Cell-cell junction
P30613	BXGT009447	Pyruvate kinase PKLR	5313	reviewed	Kinase
P33981	BXGT009744	Dual specificity protein kinase TTK	7272	reviewed	Kinase
P34932	BXGT009772	Heat shock 70 kDa protein 4	3308	reviewed
P35222	BXGT009799	Catenin beta-1	1499	reviewed
P35475	BXGT009837	Alpha-L-iduronidase	3425	reviewed	Enzyme
P35503	BXGT009840	UDP-glucuronosyltransferase 1-3	54659	reviewed
P36222	BXGT009914	Chitinase-3-like protein 1	1116	reviewed
P37840	BXGT010015	Alpha-synuclein	6622	reviewed	Transporter
P42898	BXGT010344	Methylenetetrahydrofolate reductase	4524	reviewed
P43235	BXGT010368	Cathepsin K	1513	reviewed	Enzyme
P45381	BXGT010460	Aspartoacylase	443	reviewed
P46108	BXGT010509	Adapter molecule crk	1398	reviewed
P49768	BXGT010740	Presenilin-1	5663	reviewed	Enzyme
P49913	BXGT010761	Cathelicidin antimicrobial peptide	820	reviewed
P50897	BXGT010823	Palmitoyl-protein thioesterase 1	5538	reviewed	Enzyme
P51679	BXGT010877	C-C chemokine receptor type 4	1233	reviewed	G-protein coupled receptor
P51681	BXGT010878	C-C chemokine receptor type 5	1234	reviewed	G-protein coupled receptor
P52594	BXGT010936	Arf-GAP domain and FG repeat-containing protein 1	3267	reviewed
P54803	BXGT011082	Galactocerebrosidase	2581	reviewed
P55040	BXGT011099	GTP-binding protein GEM	2669	reviewed
P55774	BXGT011124	C-C motif chemokine 18	6362	reviewed	Signaling
P61073	BXGT011352	C-X-C chemokine receptor type 4	7852	reviewed	G-protein coupled receptor
P81172	BXGT011935	Hepcidin	57817	reviewed
Q13155	BXGT013320	Aminoacyl tRNA synthase complex-interacting multifunctional protein 2	7965	reviewed
Q13231	BXGT013329	Chitotriosidase-1	1118	reviewed
Q13535	BXGT013370	Serine/threonine-protein kinase ATR	545	reviewed	Kinase
Q13546	BXGT013372	Receptor-interacting serine/threonine-protein kinase 1	8737	reviewed	Kinase
Q14108	BXGT013440	Lysosome membrane protein 2	950	reviewed	Receptor
Q15389	BXGT013564	Angiopoietin-1	284	reviewed	Signaling
Q16539	BXGT013634	Mitogen-activated protein kinase 14	1432	reviewed	Kinase
Q16739	BXGT013663	Ceramide glucosyltransferase	7357	reviewed	Enzyme
Q2M385	BXGT014131	Macrophage-expressed gene 1 protein	219972	reviewed
Q30201	BXGT014297	Hereditary hemochromatosis protein	3077	reviewed
Q96AZ6	BXGT019621	Interferon-stimulated gene 20 kDa protein	3669	reviewed
Q96J02	BXGT019679	E3 ubiquitin-protein ligase Itchy homolog	83737	reviewed	Enzyme
Q9BXM7	BXGT020172	Serine/threonine-protein kinase PINK1, mitochondrial	65018	reviewed	Kinase
Q9BZS1	BXGT020203	Forkhead box protein P3	50943	reviewed
Q9H227	BXGT020447	Cytosolic beta-glucosidase	57733	reviewed	Enzyme
Q9HAW7	BXGT020508	UDP-glucuronosyltransferase 1-7	54577	reviewed
Q9HAW8	BXGT020509	UDP-glucuronosyltransferase 1-10	54575	reviewed
Q9HAW9	BXGT020510	UDP-glucuronosyltransferase 1-8	54576	reviewed
Q9HCG7	BXGT020533	Non-lysosomal glucosylceramidase	57704	reviewed
Q9UKV0	BXGT021750	Histone deacetylase 9	9734	reviewed	Epigenetic regulator
Q9Y4B6	BXGT022272	DDB1- and CUL4-associated factor 1	9730	reviewed
Q9Y572	BXGT022289	Receptor-interacting serine/threonine-protein kinase 3	11035	reviewed	Kinase
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}