Showing entry for TARSAL-CARPAL COALITION SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD016027
Disease NameTARSAL-CARPAL COALITION SYNDROME
Disease CUI IdC1861305
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
O14727 BXGT004084 Apoptotic protease-activating factor 1 317 reviewed
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 reviewed Kinase
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
O15297 BXGT004149 Protein phosphatase 1D 8493 reviewed Enzyme
O43614 BXGT004606 Orexin receptor type 2 3062 reviewed G-protein coupled receptor
O43772 BXGT004623 Mitochondrial carnitine/acylcarnitine carrier protein 788 reviewed Transporter
O60271 BXGT004866 C-Jun-amino-terminal kinase-interacting protein 4 9043 reviewed Enzyme modulator
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
O94925 BXGT005342 Glutaminase kidney isoform, mitochondrial 2744 reviewed Enzyme
O95045 BXGT005344 Uridine phosphorylase 2 151531 reviewed Enzyme
O95271 BXGT005369 Poly [ADP-ribose] polymerase tankyrase-1 8658 reviewed
O95931 BXGT005407 Chromobox protein homolog 7 23492 reviewed Epigenetic regulator
P00387 BXGT005525 NADH-cytochrome b5 reductase 3 1727 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00749 BXGT005641 Urokinase-type plasminogen activator 5328 reviewed Enzyme
P00918 BXGT005690 Carbonic anhydrase 2 760 reviewed
P00966 BXGT005707 Argininosuccinate synthase 445 reviewed Enzyme
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04083 BXGT006147 Annexin A1 301 reviewed
P04406 BXGT006207 Glyceraldehyde-3-phosphate dehydrogenase 2597 reviewed Enzyme
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05106 BXGT006315 Integrin beta-3 3690 reviewed Receptor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05787 BXGT006385 Keratin, type II cytoskeletal 8 3856 reviewed
P06493 BXGT006445 Cyclin-dependent kinase 1 983 reviewed Kinase
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08263 BXGT006759 Glutathione S-transferase A1 2938 reviewed
P08670 BXGT006810 Vimentin 7431 reviewed
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P09917 BXGT006941 Arachidonate 5-lipoxygenase 240 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15941 BXGT008176 Mucin-1 4582 reviewed
P16070 BXGT008186 CD44 antigen 960 reviewed
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P16442 BXGT008227 Histo-blood group ABO system transferase 28 reviewed Enzyme
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P17252 BXGT008294 Protein kinase C alpha type 5578 reviewed Kinase
P17936 BXGT008357 Insulin-like growth factor-binding protein 3 3486 reviewed Enzyme modulator
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24158 BXGT008951 Myeloblastin 5657 reviewed Enzyme
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P24941 BXGT009002 Cyclin-dependent kinase 2 1017 reviewed Kinase
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P26447 BXGT009114 Protein S100-A4 6275 reviewed Calcium-binding protein
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29597 BXGT009367 Non-receptor tyrosine-protein kinase TYK2 7297 reviewed Kinase
P30086 BXGT009400 Phosphatidylethanolamine-binding protein 1 5037 reviewed Enzyme modulator
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P31025 BXGT009500 Lipocalin-1 3933 reviewed Enzyme
P33527 BXGT009728 Multidrug resistance-associated protein 1 4363 reviewed Transporter
P33681 BXGT009739 T-lymphocyte activation antigen CD80 941 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35613 BXGT009856 Basigin 682 reviewed
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P41597 BXGT010268 C-C chemokine receptor type 2 729230 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P43405 BXGT010386 Tyrosine-protein kinase SYK 6850 reviewed Kinase
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P49683 BXGT010726 Prolactin-releasing peptide receptor 2834 reviewed G-protein coupled receptor
P49789 BXGT010742 Bis(5'-adenosyl)-triphosphatase 2272 reviewed
P49902 BXGT010758 Cytosolic purine 5'-nucleotidase 22978 reviewed Enzyme
P51681 BXGT010878 C-C chemokine receptor type 5 1234 reviewed G-protein coupled receptor
P52701 BXGT010943 DNA mismatch repair protein Msh6 2956 reviewed Nucleic acid binding
P53355 BXGT010985 Death-associated protein kinase 1 1612 reviewed Kinase
P54760 BXGT011075 Ephrin type-B receptor 4 2050 reviewed Kinase
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P78358 BXGT011838 Cancer/testis antigen 1 246100 reviewed
P78417 BXGT011843 Glutathione S-transferase omega-1 9446 reviewed
P80511 BXGT011914 Protein S100-A12 6283 reviewed Calcium-binding protein
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q01094 BXGT012568 Transcription factor E2F1 1869 reviewed Nucleic acid binding
Q03405 BXGT012713 Urokinase plasminogen activator surface receptor 5329 reviewed
Q06710 BXGT012887 Paired box protein Pax-8 7849 reviewed
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q14576 BXGT013487 ELAV-like protein 3 1995 reviewed
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15109 BXGT013537 Advanced glycosylation end product-specific receptor 177 reviewed Receptor
Q15303 BXGT013557 Receptor tyrosine-protein kinase erbB-4 2066 reviewed Kinase
Q15389 BXGT013564 Angiopoietin-1 284 reviewed Signaling
Q15582 BXGT013581 Transforming growth factor-beta-induced protein ig-h3 7045 reviewed Signaling
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16620 BXGT013645 BDNF/NT-3 growth factors receptor 4915 reviewed Kinase
Q16651 BXGT013649 Prostasin 5652 reviewed Enzyme
Q53EZ4 BXGT015010 Centrosomal protein of 55 kDa 55165 reviewed
Q5T6L4 BXGT015848 Argininosuccinate synthase 1 isoform 1 445 unreviewed
Q8TCG1 BXGT018797 Protein CIP2A 57650 reviewed
Q92854 BXGT019385 Semaphorin-4D 10507 reviewed Signaling
Q96AZ6 BXGT019621 Interferon-stimulated gene 20 kDa protein 3669 reviewed
Q96T88 BXGT019747 E3 ubiquitin-protein ligase UHRF1 29128 reviewed
Q99519 BXGT019928 Sialidase-1 4758 reviewed Enzyme
Q99707 BXGT019952 Methionine synthase 4548 reviewed
Q9H4Y5 BXGT020479 Glutathione S-transferase omega-2 119391 reviewed
Q9NYY3 BXGT021264 Serine/threonine-protein kinase PLK2 10769 reviewed Kinase
Q9UBC3 BXGT021650 DNA (cytosine-5)-methyltransferase 3B 1789 reviewed
Q9UPY3 BXGT021802 Endoribonuclease Dicer 23405 reviewed Enzyme
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
P43146 BXGT022852 Netrin receptor DCC 1630 reviewed
O60936 BXGT022857 Nucleolar protein 3 8996 reviewed
Q9UBP0 BXGT023601 Spastin 6683 reviewed Cellular structure
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P98082 BXGT025047 Disabled homolog 2 1601 reviewed Signaling
Q9P2E7 BXGT025815 Protocadherin-10 57575 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
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