Showing entry for Congenital Camptodactyly


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD009810
Disease NameCongenital Camptodactyly
Disease CUI IdC0685409
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000924   HP:0003549   HP:0003011  
Human Phenotype Ontology TermAbnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
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
O00469 BXGT003926 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 5352 reviewed Enzyme
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O43318 BXGT004586 Mitogen-activated protein kinase kinase kinase 7 6885 reviewed Kinase
O43929 BXGT004638 Origin recognition complex subunit 4 5000 reviewed Nucleic acid binding
O75530 BXGT005135 Polycomb protein EED 8726 reviewed
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P01148 BXGT005739 Progonadoliberin-1 2796 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P10412 BXGT007566 Histone H1.4 3008 reviewed Nucleic acid binding
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P16435 BXGT008226 NADPH--cytochrome P450 reductase 5447 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22223 BXGT008744 Cadherin-3 1001 reviewed
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P27635 BXGT009194 60S ribosomal protein L10 6134 reviewed Nucleic acid binding
P35527 BXGT009843 Keratin, type I cytoskeletal 9 3857 reviewed
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P52788 BXGT010953 Spermine synthase 6611 reviewed
P55201 BXGT011109 Peregrin 7862 reviewed
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
Q01974 BXGT012628 Tyrosine-protein kinase transmembrane receptor ROR2 4920 reviewed Kinase
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q13415 BXGT013350 Origin recognition complex subunit 1 4998 reviewed Nucleic acid binding
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q14004 BXGT013435 Cyclin-dependent kinase 13 8621 reviewed Kinase
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16828 BXGT013676 Dual specificity protein phosphatase 6 1848 reviewed
Q8TD19 BXGT018804 Serine/threonine-protein kinase Nek9 91754 reviewed Kinase
Q96J02 BXGT019679 E3 ubiquitin-protein ligase Itchy homolog 83737 reviewed Enzyme
Q9HC29 BXGT020526 Nucleotide-binding oligomerization domain-containing protein 2 64127 reviewed Enzyme
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9UGL1 BXGT021685 Lysine-specific demethylase 5B 10765 reviewed Epigenetic regulator
Q9UHF0 BXGT021699 Tachykinin-3 6866 reviewed
Q9Y5W7 BXGT022783 Sorting nexin-14 57231 reviewed Enzyme modulator
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q9NPF4 BXGT024113 Probable tRNA N6-adenosine threonylcarbamoyltransferase 55644 reviewed Enzyme
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