Showing entry for Charcot-Marie-Tooth Disease


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000507
Disease NameCharcot-Marie-Tooth Disease
Disease CUI IdC0007959
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Semantic TypeDisease or Syndrome
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
O15269 BXGT004145 Serine palmitoyltransferase 1 10558 reviewed Enzyme
O15270 BXGT004146 Serine palmitoyltransferase 2 9517 reviewed Enzyme
O43521 BXGT004598 Bcl-2-like protein 11 10018 reviewed
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O75475 BXGT005130 PC4 and SFRS1-interacting protein 11168 reviewed Signaling
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00505 BXGT005560 Aspartate aminotransferase, mitochondrial 2806 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00558 BXGT005579 Phosphoglycerate kinase 1 5230 reviewed Kinase
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P01008 BXGT005713 Antithrombin-III 462 reviewed Enzyme modulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02652 BXGT005910 Apolipoprotein A-II 336 reviewed Transporter
P02689 BXGT005919 Myelin P2 protein 5375 reviewed
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P04180 BXGT006164 Phosphatidylcholine-sterol acyltransferase 3931 reviewed Enzyme
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04792 BXGT006264 Heat shock protein beta-1 3315 reviewed
P05023 BXGT006294 Sodium/potassium-transporting ATPase subunit alpha-1 476 reviewed Transporter
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P06401 BXGT006436 Progesterone receptor 5241 reviewed Nuclear receptor
P08034 BXGT006716 Gap junction beta-1 protein 2705 reviewed Cell-cell junction
P08473 BXGT006773 Neprilysin 4311 reviewed Enzyme
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P0CG29 BXGT007465 Glutathione S-transferase theta-2 2953 reviewed
P0CG30 BXGT007466 Glutathione S-transferase theta-2B 653689 reviewed
P12081 BXGT007772 Histidine--tRNA ligase, cytoplasmic 3035 reviewed Enzyme
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P15289 BXGT008102 Arylsulfatase A 410 reviewed Enzyme
P16070 BXGT008186 CD44 antigen 960 reviewed
P19367 BXGT008476 Hexokinase-1 3098 reviewed Kinase
P21860 BXGT008698 Receptor tyrosine-protein kinase erbB-3 2065 reviewed Kinase
P22102 BXGT008731 Trifunctional purine biosynthetic protein adenosine-3 2618 reviewed Enzyme
P23381 BXGT008860 Tryptophan--tRNA ligase, cytoplasmic 7453 reviewed Enzyme
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P36871 BXGT009936 Phosphoglucomutase-1 5236 reviewed
P41250 BXGT010244 Glycine--tRNA ligase 2617 reviewed Enzyme
P46934 BXGT010553 E3 ubiquitin-protein ligase NEDD4 4734 reviewed Enzyme
P49588 BXGT010713 Alanine--tRNA ligase, cytoplasmic 16 reviewed Nucleic acid binding
P49773 BXGT010741 Histidine triad nucleotide-binding protein 1 3094 reviewed Enzyme
P51149 BXGT010835 Ras-related protein Rab-7a 7879 reviewed
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P54577 BXGT011055 Tyrosine--tRNA ligase, cytoplasmic 8565 reviewed Enzyme
P56192 BXGT011149 Methionine--tRNA ligase, cytoplasmic 4141 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60891 BXGT011337 Ribose-phosphate pyrophosphokinase 1 5631 reviewed Kinase
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P63261 BXGT011512 Actin, cytoplasmic 2 71 reviewed Cellular structure
P68104 BXGT011575 Elongation factor 1-alpha 1 1915 reviewed Enzyme
P68363 BXGT011594 Tubulin alpha-1B chain 10376 reviewed Cellular structure
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q05193 BXGT012810 Dynamin-1 1759 reviewed Enzyme modulator
Q09013 BXGT013023 Myotonin-protein kinase 1760 reviewed Kinase
Q12840 BXGT013269 Kinesin heavy chain isoform 5A 3798 reviewed Cellular structure
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q14108 BXGT013440 Lysosome membrane protein 2 950 reviewed Receptor
Q14204 BXGT013456 Cytoplasmic dynein 1 heavy chain 1 1778 reviewed Enzyme
Q15046 BXGT013527 Lysine--tRNA ligase 3735 reviewed Enzyme
Q15120 BXGT013542 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial 5165 reviewed Kinase
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16637 BXGT013646 Survival motor neuron protein 6607 reviewed Epigenetic regulator
Q5JTZ9 BXGT015458 Alanine--tRNA ligase, mitochondrial 57505 reviewed Nucleic acid binding
Q8IVF2 BXGT018343 Protein AHNAK2 113146 reviewed
Q8IWA4 BXGT018353 Mitofusin-1 55669 reviewed Enzyme
Q8WZ42 BXGT019023 Titin 7273 reviewed Kinase
Q92945 BXGT019397 Far upstream element-binding protein 2 8570 reviewed Enzyme
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99523 BXGT019929 Sortilin 6272 reviewed Transporter
Q99816 BXGT019966 Tumor susceptibility gene 101 protein 7251 reviewed Enzyme
Q99933 BXGT019976 BAG family molecular chaperone regulator 1 573 reviewed
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NZJ4 BXGT021274 Sacsin 26278 reviewed
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q9Y286 BXGT022225 Sialic acid-binding Ig-like lectin 7 27036 reviewed Receptor
Q9Y2Q3 BXGT022242 Glutathione S-transferase kappa 1 373156 reviewed
Q9Y2Z4 BXGT022251 Tyrosine--tRNA ligase, mitochondrial 51067 reviewed Enzyme
Q9Y6X9 BXGT022345 ATPase MORC2 22880 reviewed
Q96C86 BXGT022803 m7GpppX diphosphatase 28960 reviewed Enzyme
O43148 BXGT023017 mRNA cap guanine-N7 methyltransferase 8731 reviewed
O95140 BXGT024482 Mitofusin-2 9927 reviewed Enzyme
Q96HY7 BXGT025609 Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial 55526 reviewed
P35251 BXGT025853 Replication factor C subunit 1 5981 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