Showing entry for Hyper-IgM Immunodeficiency Syndrome, Type 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008216
Disease NameHyper-IgM Immunodeficiency Syndrome, Type 1
Disease CUI IdC0398689
MeSH Codes C16   C20   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic 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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P06734 BXGT006491 Low affinity immunoglobulin epsilon Fc receptor 2208 reviewed Receptor
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P13051 BXGT007877 Uracil-DNA glycosylase 7374 reviewed
P14598 BXGT008024 Neutrophil cytosol factor 1 653361 reviewed
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P33681 BXGT009739 T-lymphocyte activation antigen CD80 941 reviewed
P36222 BXGT009914 Chitinase-3-like protein 1 1116 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
Q06187 BXGT012860 Tyrosine-protein kinase BTK 695 reviewed Kinase
Q13478 BXGT013362 Interleukin-18 receptor 1 8809 reviewed Receptor
Q96AZ6 BXGT019621 Interferon-stimulated gene 20 kDa protein 3669 reviewed
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
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