Showing entry for FRIEDREICH ATAXIA 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015630
Disease NameFRIEDREICH ATAXIA 1
Disease CUI IdC1856689
MeSH Codes C16   C18   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System 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
O00429 BXGT003919 Dynamin-1-like protein 10059 reviewed Enzyme modulator
O15379 BXGT004159 Histone deacetylase 3 8841 reviewed Epigenetic regulator
O60313 BXGT004871 Dynamin-like 120 kDa protein, mitochondrial 4976 reviewed Enzyme modulator
O60760 BXGT004899 Hematopoietic prostaglandin D synthase 27306 reviewed
O95166 BXGT005353 Gamma-aminobutyric acid receptor-associated protein 11337 reviewed Cellular structure
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02794 BXGT005967 Ferritin heavy chain 2495 reviewed Storage
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05362 BXGT006350 Intercellular adhesion molecule 1 3383 reviewed
P06858 BXGT006515 Lipoprotein lipase 4023 reviewed Enzyme
P07203 BXGT006566 Glutathione peroxidase 1 2876 reviewed Enzyme
P08922 BXGT006843 Proto-oncogene tyrosine-protein kinase ROS 6098 reviewed Kinase
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P09936 BXGT006943 Ubiquitin carboxyl-terminal hydrolase isozyme L1 7345 reviewed Enzyme
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P11021 BXGT007644 Endoplasmic reticulum chaperone BiP 3309 reviewed
P11509 BXGT007716 Cytochrome P450 2A6 1548 reviewed
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P15529 BXGT008134 Membrane cofactor protein 4179 reviewed
P15559 BXGT008139 NAD(P)H dehydrogenase [quinone] 1 1728 reviewed
P16109 BXGT008194 P-selectin 6403 reviewed
P17735 BXGT008335 Tyrosine aminotransferase 6898 reviewed
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P18505 BXGT008409 Gamma-aminobutyric acid receptor subunit beta-1 2560 reviewed Ion channel
P18848 BXGT008432 Cyclic AMP-dependent transcription factor ATF-4 468 reviewed
P19320 BXGT008470 Vascular cell adhesion protein 1 7412 reviewed
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43003 BXGT010347 Excitatory amino acid transporter 1 6507 reviewed Transporter
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P49368 BXGT010701 T-complex protein 1 subunit gamma 7203 reviewed Chaperone
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P51449 BXGT010846 Nuclear receptor ROR-gamma 6097 reviewed Nuclear receptor
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P63244 BXGT011510 Receptor of activated protein C kinase 1 10399 reviewed
P81172 BXGT011935 Hepcidin 57817 reviewed
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q15118 BXGT013540 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial 5163 reviewed Kinase
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q8N4E7 BXGT018511 Ferritin, mitochondrial 94033 reviewed Storage
Q8NI60 BXGT018572 Atypical kinase COQ8A, mitochondrial 56997 reviewed Kinase
Q99798 BXGT019962 Aconitate hydratase, mitochondrial 50 reviewed Enzyme
Q9BYF1 BXGT020186 Angiotensin-converting enzyme 2 59272 reviewed Enzyme
Q9NTG7 BXGT021211 NAD-dependent protein deacetylase sirtuin-3, mitochondrial 23410 reviewed Epigenetic regulator
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q9H1K1 BXGT025766 Iron-sulfur cluster assembly enzyme ISCU, mitochondrial 23479 reviewed
Q9HD34 BXGT025907 LYR motif-containing protein 4 57128 reviewed
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