Showing entry for Hepatolenticular Degeneration


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001302
Disease NameHepatolenticular Degeneration
Disease CUI IdC0019202
MeSH Codes C16   C06   C18   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630   DOID:7  
Disease Ontology Class Namedisease of metabolism; genetic disease; disease of anatomical entity
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
F7VJQ1 BXGT003310 Alternative prion protein 5621 reviewed
O00244 BXGT003902 Copper transport protein ATOX1 475 reviewed
O14561 BXGT004071 Acyl carrier protein, mitochondrial 4706 reviewed Transporter
O14618 BXGT004076 Copper chaperone for superoxide dismutase 9973 reviewed Enzyme
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00450 BXGT005544 Ceruloplasmin 1356 reviewed Enzyme
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01011 BXGT005715 Alpha-1-antichymotrypsin 12 reviewed Enzyme modulator
P01023 BXGT005718 Alpha-2-macroglobulin 2 reviewed Enzyme modulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04156 BXGT006156 Major prion protein 5621 reviewed
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07203 BXGT006566 Glutathione peroxidase 1 2876 reviewed Enzyme
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08758 BXGT006821 Annexin A5 308 reviewed
P09172 BXGT006865 Dopamine beta-hydroxylase 1621 reviewed
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10599 BXGT007583 Thioredoxin 7295 reviewed
P10768 BXGT007611 S-formylglutathione hydrolase 2098 reviewed Enzyme
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P10909 BXGT007630 Clusterin 1191 reviewed
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P14416 BXGT008011 D(2) dopamine receptor 1813 reviewed G-protein coupled receptor
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P14902 BXGT008065 Indoleamine 2,3-dioxygenase 1 3620 reviewed
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15104 BXGT008081 Glutamine synthetase 2752 reviewed Enzyme
P15289 BXGT008102 Arylsulfatase A 410 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17405 BXGT008304 Sphingomyelin phosphodiesterase 6609 reviewed Enzyme
P17568 BXGT008317 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 4713 reviewed Enzyme
P19320 BXGT008470 Vascular cell adhesion protein 1 7412 reviewed
P19793 BXGT008515 Retinoic acid receptor RXR-alpha 6256 reviewed Nuclear receptor
P23526 BXGT008878 Adenosylhomocysteinase 191 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P28300 BXGT009243 Protein-lysine 6-oxidase 4015 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P30988 BXGT009491 Calcitonin receptor 799 reviewed G-protein coupled receptor
P34059 BXGT009749 N-acetylgalactosamine-6-sulfatase 2588 reviewed Enzyme
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P41235 BXGT010241 Hepatocyte nuclear factor 4-alpha 3172 reviewed Nuclear receptor
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43652 BXGT010405 Afamin 173 reviewed Transporter
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46597 BXGT010528 Acetylserotonin O-methyltransferase 438 reviewed
P49281 BXGT010689 Natural resistance-associated macrophage protein 2 4891 reviewed Transporter
P60568 BXGT011315 Interleukin-2 3558 reviewed
P80297 BXGT011891 Metallothionein-1X 4501 reviewed
P81172 BXGT011935 Hepcidin 57817 reviewed
P98170 BXGT012231 E3 ubiquitin-protein ligase XIAP 331 reviewed Enzyme modulator
Q08209 BXGT012968 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform 5530 reviewed
Q13085 BXGT013309 Acetyl-CoA carboxylase 1 31 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q14872 BXGT013511 Metal regulatory transcription factor 1 4520 reviewed Transcription factor
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q7L266 BXGT016993 Isoaspartyl peptidase/L-asparaginase 80150 reviewed Enzyme
Q93088 BXGT019458 Betaine--homocysteine S-methyltransferase 1 635 reviewed
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9H0A0 BXGT020434 RNA cytidine acetyltransferase 55226 reviewed
Q9UQM7 BXGT021814 Calcium/calmodulin-dependent protein kinase type II subunit alpha 815 reviewed Kinase
Q9Y4K0 BXGT022280 Lysyl oxidase homolog 2 4017 reviewed
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
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