Showing entry for Congenital kyphoscoliosis


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD007732
Disease NameCongenital kyphoscoliosis
Disease CUI IdC0345392
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000924  
Human Phenotype Ontology TermAbnormality of the skeletal system
Disease Ontology Id   
Disease Ontology Class Name
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
O15247 BXGT004142 Chloride intracellular channel protein 2 1193 reviewed Ion channel
O15305 BXGT004152 Phosphomannomutase 2 5373 reviewed Enzyme
O75489 BXGT005131 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial 4722 reviewed
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O95363 BXGT005375 Phenylalanine--tRNA ligase, mitochondrial 10667 reviewed Enzyme
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P06753 BXGT006498 Tropomyosin alpha-3 chain 7170 reviewed Cellular structure
P08236 BXGT006752 Beta-glucuronidase 2990 reviewed
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10412 BXGT007566 Histone H1.4 3008 reviewed Nucleic acid binding
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P21333 BXGT008638 Filamin-A 2316 reviewed
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P28329 BXGT009251 Choline O-acetyltransferase 1103 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P43004 BXGT010348 Excitatory amino acid transporter 2 6506 reviewed Transporter
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P52788 BXGT010953 Spermine synthase 6611 reviewed
P54886 BXGT011092 Delta-1-pyrroline-5-carboxylate synthase 5832 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P68133 BXGT011578 Actin, alpha skeletal muscle 58 reviewed Cellular structure
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q02809 BXGT012674 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 5351 reviewed Enzyme
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q09470 BXGT013037 Potassium voltage-gated channel subfamily A member 1 3736 reviewed Ion channel
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15233 BXGT013552 Non-POU domain-containing octamer-binding protein 4841 reviewed Nucleic acid binding
Q6XUX3 BXGT016612 Dual serine/threonine and tyrosine protein kinase 25778 reviewed Kinase
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q9GZV3 BXGT020427 High affinity choline transporter 1 60482 reviewed Transporter
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9NP72 BXGT021144 Ras-related protein Rab-18 22931 reviewed
Q9NWM8 BXGT021233 Peptidyl-prolyl cis-trans isomerase FKBP14 55033 reviewed
Q9NYL2 BXGT021259 Mitogen-activated protein kinase kinase kinase 20 51776 reviewed Kinase
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q9BYC5 BXGT025656 Alpha-(1,6)-fucosyltransferase 2530 reviewed
Q96MF2 BXGT025769 SH3 and cysteine-rich domain-containing protein 3 246329 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