Showing entry for Hamartoma Syndrome, Multiple


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001203
Disease NameHamartoma Syndrome, Multiple
Disease CUI IdC0018553
MeSH Codes C16   C04  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Semantic TypeNeoplastic Process
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic 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
O00167 BXGT003887 Eyes absent homolog 2 2139 reviewed
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O00767 BXGT003949 Acyl-CoA desaturase 6319 reviewed
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
O15374 BXGT004157 Monocarboxylate transporter 5 9122 reviewed Transporter
O15427 BXGT004167 Monocarboxylate transporter 4 9123 reviewed Transporter
O15552 BXGT004180 Free fatty acid receptor 2 2867 reviewed G-protein coupled receptor
O15554 BXGT004182 Intermediate conductance calcium-activated potassium channel protein 4 3783 reviewed Ion channel
O43813 BXGT004628 Glutathione S-transferase LANCL1 10314 reviewed
O60603 BXGT004887 Toll-like receptor 2 7097 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75469 BXGT005128 Nuclear receptor subfamily 1 group I member 2 8856 reviewed Nuclear receptor
O94925 BXGT005342 Glutaminase kidney isoform, mitochondrial 2744 reviewed Enzyme
O95150 BXGT005351 Tumor necrosis factor ligand superfamily member 15 9966 reviewed Signaling
P00352 BXGT005510 Retinal dehydrogenase 1 216 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01909 BXGT005815 HLA class II histocompatibility antigen, DQ alpha 1 chain 3117 reviewed Immune response
P01920 BXGT005817 HLA class II histocompatibility antigen, DQ beta 1 chain 3119 reviewed Immune response
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P02818 BXGT005969 Osteocalcin 632 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P04440 BXGT006216 HLA class II histocompatibility antigen, DP beta 1 chain 3115 reviewed Immune response
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P05108 BXGT006317 Cholesterol side-chain cleavage enzyme, mitochondrial 1583 reviewed
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07203 BXGT006566 Glutathione peroxidase 1 2876 reviewed Enzyme
P07225 BXGT006572 Vitamin K-dependent protein S 5627 reviewed
P07288 BXGT006591 Prostate-specific antigen 354 reviewed Enzyme
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08670 BXGT006810 Vimentin 7431 reviewed
P08865 BXGT006832 40S ribosomal protein SA 3921 reviewed Nucleic acid binding
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P0CG48 BXGT007468 Polyubiquitin-C 7316 reviewed Nucleic acid binding
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11226 BXGT007675 Mannose-binding protein C 4153 reviewed Receptor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14625 BXGT008029 Endoplasmin 7184 reviewed Chaperone
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18827 BXGT008427 Syndecan-1 6382 reviewed Extracellular structure
P18847 BXGT008431 Cyclic AMP-dependent transcription factor ATF-3 467 reviewed Transcription factor
P19429 BXGT008479 Troponin I, cardiac muscle 7137 reviewed Cellular structure
P19438 BXGT008480 Tumor necrosis factor receptor superfamily member 1A 7132 reviewed
P20132 BXGT008546 L-serine dehydratase/L-threonine deaminase 10993 reviewed Enzyme
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21980 BXGT008715 Protein-glutamine gamma-glutamyltransferase 2 7052 reviewed Enzyme
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24752 BXGT008993 Acetyl-CoA acetyltransferase, mitochondrial 38 reviewed Enzyme
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P31645 BXGT009558 Sodium-dependent serotonin transporter 6532 reviewed Transporter
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P36894 BXGT009939 Bone morphogenetic protein receptor type-1A 657 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P40199 BXGT010166 Carcinoembryonic antigen-related cell adhesion molecule 6 4680 reviewed
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P40933 BXGT010209 Interleukin-15 3600 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49763 BXGT010737 Placenta growth factor 5228 reviewed Signaling
P49913 BXGT010761 Cathelicidin antimicrobial peptide 820 reviewed
P50613 BXGT010815 Cyclin-dependent kinase 7 1022 reviewed Kinase
P51580 BXGT010864 Thiopurine S-methyltransferase 7172 reviewed
P51665 BXGT010874 26S proteasome non-ATPase regulatory subunit 7 5713 reviewed Enzyme
P51686 BXGT010881 C-C chemokine receptor type 9 10803 reviewed G-protein coupled receptor
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P51946 BXGT010907 Cyclin-H 902 reviewed Enzyme modulator
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P55786 BXGT011125 Puromycin-sensitive aminopeptidase 9520 reviewed Enzyme
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P62834 BXGT011464 Ras-related protein Rap-1A 5906 reviewed Enzyme modulator
P62937 BXGT011471 Peptidyl-prolyl cis-trans isomerase A 5478 reviewed
P78536 BXGT011847 Disintegrin and metalloproteinase domain-containing protein 17 6868 reviewed
P78556 BXGT011849 C-C motif chemokine 20 6364 reviewed Signaling
P80188 BXGT011882 Neutrophil gelatinase-associated lipocalin 3934 reviewed Enzyme
P81172 BXGT011935 Hepcidin 57817 reviewed
Q00266 BXGT012515 S-adenosylmethionine synthase isoform type-1 4143 reviewed Enzyme
Q00796 BXGT012549 Sorbitol dehydrogenase 6652 reviewed Enzyme
Q02487 BXGT012656 Desmocollin-2 1824 reviewed Cell adhesion
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q04206 BXGT012754 Transcription factor p65 5970 reviewed Transcription factor
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q08345 BXGT012982 Epithelial discoidin domain-containing receptor 1 780 reviewed Kinase
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13451 BXGT013356 Peptidyl-prolyl cis-trans isomerase FKBP5 2289 reviewed Enzyme
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13501 BXGT013365 Sequestosome-1 8878 reviewed
Q14126 BXGT013446 Desmoglein-2 1829 reviewed Cell adhesion
Q14289 BXGT013459 Protein-tyrosine kinase 2-beta 2185 reviewed Kinase
Q15582 BXGT013581 Transforming growth factor-beta-induced protein ig-h3 7045 reviewed Signaling
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q5VWK5 BXGT015891 Interleukin-23 receptor 149233 reviewed Signaling
Q5Y7D3 BXGT015912 HLA class II histocompatibility antigen DQ beta chain 3119 unreviewed
Q676U5 BXGT016177 Autophagy-related protein 16-1 55054 reviewed
Q92854 BXGT019385 Semaphorin-4D 10507 reviewed Signaling
Q96D42 BXGT019636 Hepatitis A virus cellular receptor 1 26762 reviewed
Q96PD4 BXGT019705 Interleukin-17F 112744 reviewed
Q99683 BXGT019947 Mitogen-activated protein kinase kinase kinase 5 4217 reviewed Kinase
Q9BXA5 BXGT020163 Succinate receptor 1 56670 reviewed G-protein coupled receptor
Q9H244 BXGT020448 P2Y purinoceptor 12 64805 reviewed G-protein coupled receptor
Q9H3M7 BXGT020462 Thioredoxin-interacting protein 10628 reviewed
Q9H4A3 BXGT020473 Serine/threonine-protein kinase WNK1 65125 reviewed Kinase
Q9H7Z6 BXGT020493 Histone acetyltransferase KAT8 84148 reviewed
Q9HC29 BXGT020526 Nucleotide-binding oligomerization domain-containing protein 2 64127 reviewed Enzyme
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9UIF7 BXGT021717 Adenine DNA glycosylase 4595 reviewed Enzyme
Q9UKU7 BXGT021749 Isobutyryl-CoA dehydrogenase, mitochondrial 27034 reviewed Enzyme
Q9Y2Q3 BXGT022242 Glutathione S-transferase kappa 1 373156 reviewed
Q9Y2R2 BXGT022243 Tyrosine-protein phosphatase non-receptor type 22 26191 reviewed
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q96QD8 BXGT022647 Sodium-coupled neutral amino acid transporter 2 54407 reviewed Transporter
Q92847 BXGT022673 Growth hormone secretagogue receptor type 1 2693 reviewed G-protein coupled receptor
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q9BQQ3 BXGT024065 Golgi reassembly-stacking protein 1 64689 reviewed
Q9BYE2 BXGT024631 Transmembrane protease serine 13 84000 reviewed Enzyme
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q9UGM3 BXGT025543 Deleted in malignant brain tumors 1 protein 1755 reviewed Enzyme
Q969H8 BXGT025606 Myeloid-derived growth factor 56005 reviewed
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 reviewed
Q7Z699 BXGT025789 Sprouty-related, EVH1 domain-containing protein 1 161742 reviewed Receptor
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