Showing entry for AICARDI-GOUTIERES SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD008102
Disease NameAICARDI-GOUTIERES SYNDROME
Disease CUI IdC0393591
MeSH Codes C16   C20   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic disease
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
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O43524 BXGT004599 Forkhead box protein O3 2309 reviewed
O76096 BXGT005178 Cystatin-F 8530 reviewed
O95786 BXGT005396 Probable ATP-dependent RNA helicase DDX58 23586 reviewed
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01034 BXGT005721 Cystatin-C 1471 reviewed
P01138 BXGT005738 Beta-nerve growth factor 4803 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01574 BXGT005768 Interferon beta 3456 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P04035 BXGT006129 3-hydroxy-3-methylglutaryl-coenzyme A reductase 3156 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07339 BXGT006604 Cathepsin D 1509 reviewed Enzyme
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08473 BXGT006773 Neprilysin 4311 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P19440 BXGT008481 Glutathione hydrolase 1 proenzyme 2678 reviewed Enzyme
P22680 BXGT008794 Cholesterol 7-alpha-monooxygenase 1581 reviewed Enzyme
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P27352 BXGT009174 Cobalamin binding intrinsic factor 2694 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P32239 BXGT009612 Gastrin/cholecystokinin type B receptor 887 reviewed G-protein coupled receptor
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35869 BXGT009877 Aryl hydrocarbon receptor 196 reviewed Transcription factor
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P55211 BXGT011111 Caspase-9 842 reviewed Enzyme
P55265 BXGT011117 Double-stranded RNA-specific adenosine deaminase 103 reviewed Enzyme
P78504 BXGT011844 Protein jagged-1 182 reviewed
P78563 BXGT011850 Double-stranded RNA-specific editase 1 104 reviewed Enzyme
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q05329 BXGT012814 Glutamate decarboxylase 2 2572 reviewed Enzyme
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q14191 BXGT013452 Werner syndrome ATP-dependent helicase 7486 reviewed Enzyme
Q14790 BXGT013505 Caspase-8 841 reviewed Enzyme
Q15031 BXGT013525 Probable leucine--tRNA ligase, mitochondrial 23395 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16674 BXGT013655 Melanoma-derived growth regulatory protein 8190 reviewed
Q5VZ30 BXGT015894 Glutamate decarboxylase 2 (Pancreatic islets and brain, 65kDa) 2572 unreviewed
Q86WV6 BXGT017626 Stimulator of interferon genes protein 340061 reviewed
Q8N884 BXGT018528 Cyclic GMP-AMP synthase 115004 reviewed
Q96QV1 BXGT019722 Hedgehog-interacting protein 64399 reviewed
Q9BXH1 BXGT020167 Bcl-2-binding component 3 27113 reviewed
Q9NRM7 BXGT021190 Serine/threonine-protein kinase LATS2 26524 reviewed Kinase
Q9P2J5 BXGT021301 Leucine--tRNA ligase, cytoplasmic 51520 reviewed
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y3Z3 BXGT022268 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 25939 reviewed
Q9Y5Z0 BXGT022310 Beta-secretase 2 25825 reviewed Enzyme
A6NGN9 BXGT023893 IgLON family member 5 402665 reviewed
Q9UKL0 BXGT024575 REST corepressor 1 23186 reviewed
Q96MS0 BXGT025241 Roundabout homolog 3 64221 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