Showing entry for Micromelia



                               
General Disease Information
BXGD IdBXGD001885
Disease NameMicromelia
Disease CUI IdC0025995
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0040064   HP:0000924  
Human Phenotype Ontology TermAbnormality of limbs; Abnormality 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
O00238 BXGT003900 Bone morphogenetic protein receptor type-1B 658 reviewed Kinase
O00755 BXGT003945 Protein Wnt-7a 7476 reviewed Signaling
O15357 BXGT004156 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 3636 reviewed
O43175 BXGT004575 D-3-phosphoglycerate dehydrogenase 26227 reviewed Enzyme
O75147 BXGT005102 Obscurin-like protein 1 23363 reviewed
O75369 BXGT005119 Filamin-B 2317 reviewed
O75874 BXGT005157 Isocitrate dehydrogenase [NADP] cytoplasmic 3417 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P05186 BXGT006338 Alkaline phosphatase, tissue-nonspecific isozyme 249 reviewed Enzyme
P08151 BXGT006731 Zinc finger protein GLI1 2735 reviewed
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P21333 BXGT008638 Filamin-A 2316 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P42702 BXGT010335 Leukemia inhibitory factor receptor 3977 reviewed Signaling
P43026 BXGT010351 Growth/differentiation factor 5 8200 reviewed Signaling
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P49747 BXGT010732 Cartilage oligomeric matrix protein 1311 reviewed
P58335 BXGT011233 Anthrax toxin receptor 2 118429 reviewed Receptor
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q03431 BXGT012714 Parathyroid hormone/parathyroid hormone-related peptide receptor 5745 reviewed G-protein coupled receptor
Q08499 BXGT012988 cAMP-specific 3',5'-cyclic phosphodiesterase 4D 5144 reviewed
Q14332 BXGT013462 Frizzled-2 2535 reviewed G-protein coupled receptor
Q14623 BXGT013490 Indian hedgehog protein 3549 reviewed
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q15392 BXGT013566 Delta(24)-sterol reductase 1718 reviewed Enzyme
Q16832 BXGT013678 Discoidin domain-containing receptor 2 4921 reviewed Kinase
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UPZ9 BXGT021804 Serine/threonine-protein kinase ICK 22858 reviewed Kinase
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q14807 BXGT024966 Kinesin-like protein KIF22 3835 reviewed Cellular structure
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 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