Showing entry for Severe Combined Immunodeficiency


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003126
Disease NameSevere Combined Immunodeficiency
Disease CUI IdC0085110
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
O00330 BXGT003910 Pyruvate dehydrogenase protein X component, mitochondrial 8050 reviewed Enzyme
O14920 BXGT004110 Inhibitor of nuclear factor kappa-B kinase subunit beta 3551 reviewed Kinase
O15353 BXGT004155 Forkhead box protein N1 8456 reviewed
O43707 BXGT004616 Alpha-actinin-4 81 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75473 BXGT005129 Leucine-rich repeat-containing G-protein coupled receptor 5 8549 reviewed G-protein coupled receptor
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00491 BXGT005555 Purine nucleoside phosphorylase 4860 reviewed Enzyme
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P00740 BXGT005634 Coagulation factor IX 2158 reviewed Enzyme
P00749 BXGT005641 Urokinase-type plasminogen activator 5328 reviewed Enzyme
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P02788 BXGT005963 Lactotransferrin 4057 reviewed Enzyme
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04004 BXGT006125 Vitronectin 7448 reviewed
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04839 BXGT006273 Cytochrome b-245 heavy chain 1536 reviewed Ion channel
P05106 BXGT006315 Integrin beta-3 3690 reviewed Receptor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06239 BXGT006427 Tyrosine-protein kinase Lck 3932 reviewed Kinase
P06731 BXGT006488 Carcinoembryonic antigen-related cell adhesion molecule 5 1048 reviewed
P06756 BXGT006499 Integrin alpha-V 3685 reviewed
P07288 BXGT006591 Prostate-specific antigen 354 reviewed Enzyme
P07355 BXGT006609 Annexin A2 302 reviewed
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08473 BXGT006773 Neprilysin 4311 reviewed Enzyme
P08575 BXGT006793 Receptor-type tyrosine-protein phosphatase C 5788 reviewed Enzyme
P08670 BXGT006810 Vimentin 7431 reviewed
P08700 BXGT006816 Interleukin-3 3562 reviewed
P09382 BXGT006882 Galectin-1 3956 reviewed Signaling
P09466 BXGT006892 Glycodelin 5047 reviewed Enzyme
P09486 BXGT006897 SPARC 6678 reviewed Signaling
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10747 BXGT007609 T-cell-specific surface glycoprotein CD28 940 reviewed
P10828 BXGT007624 Thyroid hormone receptor beta 7068 reviewed Nuclear receptor
P11586 BXGT007723 C-1-tetrahydrofolate synthase, cytoplasmic 4522 reviewed Enzyme
P11802 BXGT007750 Cyclin-dependent kinase 4 1019 reviewed Kinase
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P13726 BXGT007950 Tissue factor 2152 reviewed Receptor
P14598 BXGT008024 Neutrophil cytosol factor 1 653361 reviewed
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P14784 BXGT008054 Interleukin-2 receptor subunit beta 3560 reviewed Receptor
P15153 BXGT008090 Ras-related C3 botulinum toxin substrate 2 5880 reviewed Enzyme modulator
P15309 BXGT008105 Prostatic acid phosphatase 55 reviewed Enzyme
P15428 BXGT008121 15-hydroxyprostaglandin dehydrogenase [NAD(+)] 3248 reviewed
P15531 BXGT008136 Nucleoside diphosphate kinase A 4830 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15941 BXGT008176 Mucin-1 4582 reviewed
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P16871 BXGT008269 Interleukin-7 receptor subunit alpha 3575 reviewed Receptor
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P20062 BXGT008543 Transcobalamin-2 6948 reviewed
P21589 BXGT008669 5'-nucleotidase 4907 reviewed Enzyme
P22223 BXGT008744 Cadherin-3 1001 reviewed
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P24941 BXGT009002 Cyclin-dependent kinase 2 1017 reviewed Kinase
P25025 BXGT009006 C-X-C chemokine receptor type 2 3579 reviewed G-protein coupled receptor
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P27487 BXGT009187 Dipeptidyl peptidase 4 1803 reviewed Enzyme
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29317 BXGT009331 Ephrin type-A receptor 2 1969 reviewed Kinase
P29320 BXGT009332 Ephrin type-A receptor 3 2042 reviewed Kinase
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P30279 BXGT009415 G1/S-specific cyclin-D2 894 reviewed Enzyme modulator
P31785 BXGT009577 Cytokine receptor common subunit gamma 3561 reviewed Signaling
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35610 BXGT009855 Sterol O-acyltransferase 1 6646 reviewed Enzyme
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P39060 BXGT010088 Collagen alpha-1(XVIII) chain 80781 reviewed
P40261 BXGT010170 Nicotinamide N-methyltransferase 4837 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P40933 BXGT010209 Interleukin-15 3600 reviewed
P41182 BXGT010231 B-cell lymphoma 6 protein 604 reviewed
P42224 BXGT010286 Signal transducer and activator of transcription 1-alpha/beta 6772 reviewed Nucleic acid binding
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
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P43405 BXGT010386 Tyrosine-protein kinase SYK 6850 reviewed Kinase
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P48551 BXGT010645 Interferon alpha/beta receptor 2 3455 reviewed Receptor
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49913 BXGT010761 Cathelicidin antimicrobial peptide 820 reviewed
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P51589 BXGT010867 Cytochrome P450 2J2 1573 reviewed
P51681 BXGT010878 C-C chemokine receptor type 5 1234 reviewed G-protein coupled receptor
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P52333 BXGT010928 Tyrosine-protein kinase JAK3 3718 reviewed Kinase
P54819 BXGT011084 Adenylate kinase 2, mitochondrial 204 reviewed Kinase
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60568 BXGT011315 Interleukin-2 3558 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60900 BXGT011338 Proteasome subunit alpha type-6 5687 reviewed
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
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
P84074 BXGT012030 Neuron-specific calcium-binding protein hippocalcin 3208 reviewed
Q01094 BXGT012568 Transcription factor E2F1 1869 reviewed Nucleic acid binding
Q02763 BXGT012667 Angiopoietin-1 receptor 7010 reviewed Kinase
Q06187 BXGT012860 Tyrosine-protein kinase BTK 695 reviewed Kinase
Q07021 BXGT012915 Complement component 1 Q subcomponent-binding protein, mitochondrial 708 reviewed
Q08050 BXGT012958 Forkhead box protein M1 2305 reviewed
Q12965 BXGT013285 Unconventional myosin-Ie 4643 reviewed Cellular structure
Q13219 BXGT013327 Pappalysin-1 5069 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13426 BXGT013353 DNA repair protein XRCC4 7518 reviewed
Q13478 BXGT013362 Interleukin-18 receptor 1 8809 reviewed Receptor
Q13586 BXGT013380 Stromal interaction molecule 1 6786 reviewed
Q14002 BXGT013433 Carcinoembryonic antigen-related cell adhesion molecule 7 1087 reviewed
Q14116 BXGT013442 Interleukin-18 3606 reviewed
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q16674 BXGT013655 Melanoma-derived growth regulatory protein 8190 reviewed
Q6PJP8 BXGT016477 DNA cross-link repair 1A protein 9937 reviewed
Q8IV61 BXGT018340 Ras guanyl-releasing protein 3 25780 reviewed Enzyme modulator
Q92876 BXGT019388 Kallikrein-6 5653 reviewed Enzyme
Q96D31 BXGT019635 Calcium release-activated calcium channel protein 1 84876 reviewed Ion channel
Q96LA8 BXGT019691 Protein arginine N-methyltransferase 6 55170 reviewed Epigenetic regulator
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q99623 BXGT019941 Prohibitin-2 11331 reviewed
Q99836 BXGT019970 Myeloid differentiation primary response protein MyD88 4615 reviewed Enzyme modulator
Q99972 BXGT019979 Myocilin 4653 reviewed Cellular structure
Q9BXL7 BXGT020171 Caspase recruitment domain-containing protein 11 84433 reviewed
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9GZX6 BXGT020428 Interleukin-22 50616 reviewed
Q9HBE5 BXGT020518 Interleukin-21 receptor 50615 reviewed Receptor
Q9NR12 BXGT021174 PDZ and LIM domain protein 7 9260 reviewed Cellular structure
Q9Y239 BXGT022213 Nucleotide-binding oligomerization domain-containing protein 1 10392 reviewed Enzyme
Q9Y251 BXGT022215 Heparanase 10855 reviewed Enzyme
Q9Y275 BXGT022223 Tumor necrosis factor ligand superfamily member 13B 10673 reviewed
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
P07766 BXGT023327 T-cell surface glycoprotein CD3 epsilon chain 916 reviewed
P40198 BXGT023750 Carcinoembryonic antigen-related cell adhesion molecule 3 1084 reviewed
Q96SD1 BXGT025929 Protein artemis 64421 reviewed
Q9UKU9 BXGT025985 Angiopoietin-related protein 2 23452 reviewed Signaling
P11836 BXGT025994 B-lymphocyte antigen CD20 931 reviewed Receptor
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