Showing entry for Friedreich Ataxia



                               
General Disease Information
BXGD IdBXGD001074
Disease NameFriedreich Ataxia
Disease CUI IdC0016719
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 HP:0000152  
Human Phenotype Ontology TermAbnormality of head or neck
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
O00151 BXGT003885 PDZ and LIM domain protein 1 9124 reviewed Cellular structure
O00555 BXGT003936 Voltage-dependent P/Q-type calcium channel subunit alpha-1A 773 reviewed Ion channel
O15379 BXGT004159 Histone deacetylase 3 8841 reviewed Epigenetic regulator
P01574 BXGT005768 Interferon beta 3456 reviewed
P01579 BXGT005770 Interferon gamma 3458 reviewed
P02647 BXGT005908 Apolipoprotein A-I 335 reviewed
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04818 BXGT006269 Thymidylate synthase 7298 reviewed Enzyme
P08670 BXGT006810 Vimentin 7431 reviewed
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P26447 BXGT009114 Protein S100-A4 6275 reviewed Calcium-binding protein
P28347 BXGT009257 Transcriptional enhancer factor TEF-1 7003 reviewed Transcription factor
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
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
P45379 BXGT010459 Troponin T, cardiac muscle 7139 reviewed Cellular structure
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P48544 BXGT010641 G protein-activated inward rectifier potassium channel 4 3762 reviewed Ion channel
P49638 BXGT010720 Alpha-tocopherol transfer protein 7274 reviewed Transporter
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P54098 BXGT011030 DNA polymerase subunit gamma-1 5428 reviewed Enzyme
P81172 BXGT011935 Hepcidin 57817 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q14003 BXGT013434 Potassium voltage-gated channel subfamily C member 3 3748 reviewed Ion channel
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
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q7Z2E3 BXGT017246 Aprataxin 54840 reviewed Nucleic acid binding
Q86SX6 BXGT017601 Glutaredoxin-related protein 5, mitochondrial 51218 reviewed Enzyme
Q8N4E7 BXGT018511 Ferritin, mitochondrial 94033 reviewed Storage
Q93009 BXGT019455 Ubiquitin carboxyl-terminal hydrolase 7 7874 reviewed Enzyme
Q99700 BXGT019949 Ataxin-2 6311 reviewed Nucleic acid binding
Q9NTG7 BXGT021211 NAD-dependent protein deacetylase sirtuin-3, mitochondrial 23410 reviewed Epigenetic regulator
P09622 BXGT023116 Dihydrolipoyl dehydrogenase, mitochondrial 1738 reviewed Enzyme
O95140 BXGT024482 Mitofusin-2 9927 reviewed Enzyme
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q9H1K1 BXGT025766 Iron-sulfur cluster assembly enzyme ISCU, mitochondrial 23479 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