Showing entry for Acrocephaly



                               
General Disease Information
BXGD IdBXGD002186
Disease NameAcrocephaly
Disease CUI IdC0030044
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000152   HP:0000924  
Human Phenotype Ontology TermAbnormality of head or neck; Abnormality of the skeletal system
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P36969 BXGT009949 Phospholipid hydroperoxide glutathione peroxidase 2879 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
Q15652 BXGT013587 Probable JmjC domain-containing histone demethylation protein 2C 221037 reviewed
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q6NUK1 BXGT016429 Calcium-binding mitochondrial carrier protein SCaMC-1 29957 reviewed Transporter
Q92832 BXGT025242 Protein kinase C-binding protein NELL1 4745 reviewed Calcium-binding protein
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