Showing entry for Hypercholesterolemia, Familial


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001386
Disease NameHypercholesterolemia, Familial
Disease CUI IdC0020445
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease 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
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O14791 BXGT004101 Apolipoprotein L1 8542 reviewed Transporter
O75475 BXGT005130 PC4 and SFRS1-interacting protein 11168 reviewed Signaling
O75751 BXGT005150 Solute carrier family 22 member 3 6581 reviewed Transporter
O76074 BXGT005174 cGMP-specific 3',5'-cyclic phosphodiesterase 8654 reviewed
O95477 BXGT005383 Phospholipid-transporting ATPase ABCA1 19 reviewed Transporter
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02647 BXGT005908 Apolipoprotein A-I 335 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02652 BXGT005910 Apolipoprotein A-II 336 reviewed Transporter
P02655 BXGT005912 Apolipoprotein C-II 344 reviewed
P02656 BXGT005913 Apolipoprotein C-III 345 reviewed
P02675 BXGT005916 Fibrinogen beta chain 2244 reviewed Signaling
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02749 BXGT005941 Beta-2-glycoprotein 1 350 reviewed
P02794 BXGT005967 Ferritin heavy chain 2495 reviewed Storage
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04003 BXGT006124 C4b-binding protein alpha chain 722 reviewed
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04180 BXGT006164 Phosphatidylcholine-sterol acyltransferase 3931 reviewed Enzyme
P05107 BXGT006316 Integrin beta-2 3689 reviewed Receptor
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P05164 BXGT006333 Myeloperoxidase 4353 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P06727 BXGT006485 Apolipoprotein A-IV 337 reviewed
P06858 BXGT006515 Lipoprotein lipase 4023 reviewed Enzyme
P07204 BXGT006567 Thrombomodulin 7056 reviewed
P08047 BXGT006720 Transcription factor Sp1 6667 reviewed Nucleic acid binding
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P08603 BXGT006798 Complement factor H 3075 reviewed
P08758 BXGT006821 Annexin A5 308 reviewed
P08922 BXGT006843 Proto-oncogene tyrosine-protein kinase ROS 6098 reviewed Kinase
P09917 BXGT006941 Arachidonate 5-lipoxygenase 240 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10599 BXGT007583 Thioredoxin 7295 reviewed
P10747 BXGT007609 T-cell-specific surface glycoprotein CD28 940 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11597 BXGT007727 Cholesteryl ester transfer protein 1071 reviewed
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13726 BXGT007950 Tissue factor 2152 reviewed Receptor
P13945 BXGT007972 Beta-3 adrenergic receptor 155 reviewed G-protein coupled receptor
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P16435 BXGT008226 NADPH--cytochrome P450 reductase 5447 reviewed
P16442 BXGT008227 Histo-blood group ABO system transferase 28 reviewed Enzyme
P16581 BXGT008245 E-selectin 6401 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P20292 BXGT008561 Arachidonate 5-lipoxygenase-activating protein 241 reviewed Enzyme
P20851 BXGT008609 C4b-binding protein beta chain 725 reviewed
P22680 BXGT008794 Cholesterol 7-alpha-monooxygenase 1581 reviewed Enzyme
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P25024 BXGT009005 C-X-C chemokine receptor type 1 3577 reviewed G-protein coupled receptor
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P27708 BXGT009202 CAD protein 790 reviewed Enzyme
P27815 BXGT009208 cAMP-specific 3',5'-cyclic phosphodiesterase 4A 5141 reviewed
P29373 BXGT009337 Cellular retinoic acid-binding protein 2 1382 reviewed
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P29597 BXGT009367 Non-receptor tyrosine-protein kinase TYK2 7297 reviewed Kinase
P32754 BXGT009664 4-hydroxyphenylpyruvate dioxygenase 3242 reviewed Enzyme
P34913 BXGT009770 Bifunctional epoxide hydrolase 2 2053 reviewed Enzyme
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P36969 BXGT009949 Phospholipid hydroperoxide glutathione peroxidase 2879 reviewed Enzyme
P37088 BXGT009961 Amiloride-sensitive sodium channel subunit alpha 6337 reviewed Ion channel
P38571 BXGT010054 Lysosomal acid lipase/cholesteryl ester hydrolase 3988 reviewed Enzyme
P42224 BXGT010286 Signal transducer and activator of transcription 1-alpha/beta 6772 reviewed Nucleic acid binding
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P48506 BXGT010635 Glutamate--cysteine ligase catalytic subunit 2729 reviewed Enzyme
P48637 BXGT010649 Glutathione synthetase 2937 reviewed Enzyme
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P50591 BXGT010814 Tumor necrosis factor ligand superfamily member 10 8743 reviewed Signaling
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51679 BXGT010877 C-C chemokine receptor type 4 1233 reviewed G-protein coupled receptor
P54922 BXGT011093 [Protein ADP-ribosylarginine] hydrolase 141 reviewed Enzyme
P78380 BXGT011841 Oxidized low-density lipoprotein receptor 1 4973 reviewed
P80511 BXGT011914 Protein S100-A12 6283 reviewed Calcium-binding protein
P98155 BXGT012226 Very low-density lipoprotein receptor 7436 reviewed
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q07954 BXGT012950 Prolow-density lipoprotein receptor-related protein 1 4035 reviewed
Q12772 BXGT013262 Sterol regulatory element-binding protein 2 6721 reviewed
Q13093 BXGT013310 Platelet-activating factor acetylhydrolase 7941 reviewed Enzyme
Q14116 BXGT013442 Interleukin-18 3606 reviewed
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16543 BXGT013635 Hsp90 co-chaperone Cdc37 11140 reviewed Enzyme modulator
Q86X55 BXGT017627 Histone-arginine methyltransferase CARM1 10498 reviewed Epigenetic regulator
Q8IY67 BXGT018363 Ribonucleoprotein PTB-binding 1 125950 reviewed Nucleic acid binding
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q8NCC3 BXGT018546 Group XV phospholipase A2 23659 reviewed Enzyme
Q8WY64 BXGT019017 E3 ubiquitin-protein ligase MYLIP 29116 reviewed
Q92945 BXGT019397 Far upstream element-binding protein 2 8570 reviewed Enzyme
Q96RJ3 BXGT019729 Tumor necrosis factor receptor superfamily member 13C 115650 reviewed
Q9NR19 BXGT021175 Acetyl-coenzyme A synthetase, cytoplasmic 55902 reviewed Enzyme
Q9NZJ4 BXGT021274 Sacsin 26278 reviewed
Q9UKV8 BXGT021752 Protein argonaute-2 27161 reviewed
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9Y275 BXGT022223 Tumor necrosis factor ligand superfamily member 13B 10673 reviewed
Q9Y285 BXGT022224 Phenylalanine--tRNA ligase alpha subunit 2193 reviewed
Q9Y286 BXGT022225 Sialic acid-binding Ig-like lectin 7 27036 reviewed Receptor
Q9Y5X9 BXGT022307 Endothelial lipase 9388 reviewed Enzyme
Q9Y6L6 BXGT022334 Solute carrier organic anion transporter family member 1B1 10599 reviewed Transporter
Q63ZY3 BXGT023544 KN motif and ankyrin repeat domain-containing protein 2 25959 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