Showing entry for Combined immunodeficiency


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD009023
Disease NameCombined immunodeficiency
Disease CUI IdC0494261
MeSH Codes C16   C18   C20  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0002715  
Human Phenotype Ontology TermAbnormality of the immune 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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14920 BXGT004110 Inhibitor of nuclear factor kappa-B kinase subunit beta 3551 reviewed Kinase
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O95267 BXGT005368 RAS guanyl-releasing protein 1 10125 reviewed Enzyme modulator
P00491 BXGT005555 Purine nucleoside phosphorylase 4860 reviewed Enzyme
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P06239 BXGT006427 Tyrosine-protein kinase Lck 3932 reviewed Kinase
P11586 BXGT007723 C-1-tetrahydrofolate synthase, cytoplasmic 4522 reviewed Enzyme
P15153 BXGT008090 Ras-related C3 botulinum toxin substrate 2 5880 reviewed Enzyme modulator
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P25963 BXGT009080 NF-kappa-B inhibitor alpha 4792 reviewed
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P31785 BXGT009577 Cytokine receptor common subunit gamma 3561 reviewed Signaling
P42224 BXGT010286 Signal transducer and activator of transcription 1-alpha/beta 6772 reviewed Nucleic acid binding
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P43489 BXGT010394 Tumor necrosis factor receptor superfamily member 4 7293 reviewed
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P54819 BXGT011084 Adenylate kinase 2, mitochondrial 204 reviewed Kinase
P60953 BXGT011342 Cell division control protein 42 homolog 998 reviewed Enzyme modulator
P61160 BXGT011365 Actin-related protein 2 10097 reviewed Cellular structure
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
P78527 BXGT011846 DNA-dependent protein kinase catalytic subunit 5591 reviewed Kinase
Q08881 BXGT013012 Tyrosine-protein kinase ITK/TSK 3702 reviewed Kinase
Q13043 BXGT013307 Serine/threonine-protein kinase 4 6789 reviewed Kinase
Q13546 BXGT013372 Receptor-interacting serine/threonine-protein kinase 1 8737 reviewed Kinase
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q92698 BXGT019362 DNA repair and recombination protein RAD54-like 8438 reviewed
Q96D31 BXGT019635 Calcium release-activated calcium channel protein 1 84876 reviewed Ion channel
Q99972 BXGT019979 Myocilin 4653 reviewed Cellular structure
Q9BXL7 BXGT020171 Caspase recruitment domain-containing protein 11 84433 reviewed
Q9HBE5 BXGT020518 Interleukin-21 receptor 50615 reviewed Receptor
Q9UDY8 BXGT021670 Mucosa-associated lymphoid tissue lymphoma translocation protein 1 10892 reviewed Enzyme
Q9Y263 BXGT022220 Phospholipase A-2-activating protein 9373 reviewed Enzyme modulator
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
Q13432 BXGT024144 Protein unc-119 homolog A 9094 reviewed Receptor
Q96SD1 BXGT025929 Protein artemis 64421 reviewed
Q9UKU9 BXGT025985 Angiopoietin-related protein 2 23452 reviewed Signaling
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