Showing entry for Ataxia Telangiectasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000257
Disease NameAtaxia Telangiectasia
Disease CUI IdC0004135
MeSH Codes C16   C18   C20   C10   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular 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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14757 BXGT004092 Serine/threonine-protein kinase Chk1 1111 reviewed Kinase
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
O15244 BXGT004140 Solute carrier family 22 member 2 6582 reviewed Transporter
O15297 BXGT004149 Protein phosphatase 1D 8493 reviewed Enzyme
O43524 BXGT004599 Forkhead box protein O3 2309 reviewed
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O95067 BXGT005347 G2/mitotic-specific cyclin-B2 9133 reviewed Enzyme modulator
O95644 BXGT005389 Nuclear factor of activated T-cells, cytoplasmic 1 4772 reviewed Transcription factor
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P00374 BXGT005520 Dihydrofolate reductase 1719 reviewed Enzyme
P00439 BXGT005539 Phenylalanine-4-hydroxylase 5053 reviewed
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00740 BXGT005634 Coagulation factor IX 2158 reviewed Enzyme
P00750 BXGT005642 Tissue-type plasminogen activator 5327 reviewed Enzyme
P00846 BXGT005674 ATP synthase subunit a 4508 reviewed Transporter
P01008 BXGT005713 Antithrombin-III 462 reviewed Enzyme modulator
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01100 BXGT005727 Proto-oncogene c-Fos 2353 reviewed Transcription factor
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01574 BXGT005768 Interferon beta 3456 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01911 BXGT005816 HLA class II histocompatibility antigen, DRB1-15 beta chain 3123 reviewed Immune response
P01920 BXGT005817 HLA class II histocompatibility antigen, DQ beta 1 chain 3119 reviewed Immune response
P02511 BXGT005885 Alpha-crystallin B chain 1410 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02656 BXGT005913 Apolipoprotein C-III 345 reviewed
P02724 BXGT005934 Glycophorin-A 2993 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02786 BXGT005961 Transferrin receptor protein 1 7037 reviewed Enzyme
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04440 BXGT006216 HLA class II histocompatibility antigen, DP beta 1 chain 3115 reviewed Immune response
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04818 BXGT006269 Thymidylate synthase 7298 reviewed Enzyme
P05161 BXGT006331 Ubiquitin-like protein ISG15 9636 reviewed Nucleic acid binding
P06493 BXGT006445 Cyclin-dependent kinase 1 983 reviewed Kinase
P07148 BXGT006559 Fatty acid-binding protein, liver 2168 reviewed
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07305 BXGT006594 Histone H1.0 3005 reviewed Nucleic acid binding
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P07477 BXGT006629 Trypsin-1 5644 reviewed Enzyme
P07550 BXGT006636 Beta-2 adrenergic receptor 154 reviewed G-protein coupled receptor
P07949 BXGT006703 Proto-oncogene tyrosine-protein kinase receptor Ret 5979 reviewed Kinase
P08246 BXGT006756 Neutrophil elastase 1991 reviewed Enzyme
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08514 BXGT006781 Integrin alpha-IIb 3674 reviewed
P09211 BXGT006869 Glutathione S-transferase P 2950 reviewed
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P09917 BXGT006941 Arachidonate 5-lipoxygenase 240 reviewed Enzyme
P0DMV8 BXGT007509 Heat shock 70 kDa protein 1A 3304 reviewed
P0DMV9 BXGT007510 Heat shock 70 kDa protein 1B 3304 reviewed
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10635 BXGT007595 Cytochrome P450 2D6 1565 reviewed
P11021 BXGT007644 Endoplasmic reticulum chaperone BiP 3309 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P11387 BXGT007696 DNA topoisomerase 1 7150 reviewed Enzyme
P11388 BXGT007697 DNA topoisomerase 2-alpha 7153 reviewed
P11413 BXGT007701 Glucose-6-phosphate 1-dehydrogenase 2539 reviewed Enzyme
P13497 BXGT007915 Bone morphogenetic protein 1 649 reviewed
P14416 BXGT008011 D(2) dopamine receptor 1813 reviewed G-protein coupled receptor
P14635 BXGT008031 G2/mitotic-specific cyclin-B1 891 reviewed Enzyme modulator
P14679 BXGT008039 Tyrosinase 7299 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P14921 BXGT008068 Protein C-ets-1 2113 reviewed Transcription factor
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15289 BXGT008102 Arylsulfatase A 410 reviewed Enzyme
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
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P16473 BXGT008234 Thyrotropin receptor 7253 reviewed G-protein coupled receptor
P18887 BXGT008437 DNA repair protein XRCC1 7515 reviewed
P21980 BXGT008715 Protein-glutamine gamma-glutamyltransferase 2 7052 reviewed Enzyme
P23141 BXGT008830 Liver carboxylesterase 1 1066 reviewed Enzyme
P23219 BXGT008837 Prostaglandin G/H synthase 1 5742 reviewed Enzyme
P23945 BXGT008931 Follicle-stimulating hormone receptor 2492 reviewed G-protein coupled receptor
P24557 BXGT008976 Thromboxane-A synthase 6916 reviewed
P24752 BXGT008993 Acetyl-CoA acetyltransferase, mitochondrial 38 reviewed Enzyme
P24941 BXGT009002 Cyclin-dependent kinase 2 1017 reviewed Kinase
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P25963 BXGT009080 NF-kappa-B inhibitor alpha 4792 reviewed
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P27707 BXGT009201 Deoxycytidine kinase 1633 reviewed Kinase
P28072 BXGT009231 Proteasome subunit beta type-6 5694 reviewed
P28300 BXGT009243 Protein-lysine 6-oxidase 4015 reviewed
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P29466 BXGT009349 Caspase-1 834 reviewed Enzyme
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P30307 BXGT009421 M-phase inducer phosphatase 3 995 reviewed Enzyme
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P31751 BXGT009576 RAC-beta serine/threonine-protein kinase 208 reviewed Kinase
P31785 BXGT009577 Cytokine receptor common subunit gamma 3561 reviewed Signaling
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P35610 BXGT009855 Sterol O-acyltransferase 1 6646 reviewed Enzyme
P36888 BXGT009938 Receptor-type tyrosine-protein kinase FLT3 2322 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41212 BXGT010235 Transcription factor ETV6 2120 reviewed Transcription factor
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
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P46059 BXGT010500 Solute carrier family 15 member 1 6564 reviewed Transporter
P47712 BXGT010577 Cytosolic phospholipase A2 5321 reviewed Enzyme
P48058 BXGT010614 Glutamate receptor 4 2893 reviewed Ion channel
P48065 BXGT010617 Sodium- and chloride-dependent betaine transporter 6539 reviewed Transporter
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49916 BXGT010764 DNA ligase 3 3980 reviewed Enzyme
P49917 BXGT010765 DNA ligase 4 3981 reviewed
P49959 BXGT010766 Double-strand break repair protein MRE11 4361 reviewed
P50052 BXGT010768 Type-2 angiotensin II receptor 186 reviewed G-protein coupled receptor
P50591 BXGT010814 Tumor necrosis factor ligand superfamily member 10 8743 reviewed Signaling
P51692 BXGT010885 Signal transducer and activator of transcription 5B 6777 reviewed Nucleic acid binding
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P51946 BXGT010907 Cyclin-H 902 reviewed Enzyme modulator
P52333 BXGT010928 Tyrosine-protein kinase JAK3 3718 reviewed Kinase
P53350 BXGT010984 Serine/threonine-protein kinase PLK1 5347 reviewed Kinase
P54132 BXGT011032 Bloom syndrome protein 641 reviewed
P55211 BXGT011111 Caspase-9 842 reviewed Enzyme
P55899 BXGT011131 IgG receptor FcRn large subunit p51 2217 reviewed
P56192 BXGT011149 Methionine--tRNA ligase, cytoplasmic 4141 reviewed
P58004 BXGT011222 Sestrin-2 83667 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P62805 BXGT011457 Histone H4 8370 reviewed
P62820 BXGT011461 Ras-related protein Rab-1A 5861 reviewed
P78352 BXGT011836 Disks large homolog 4 1742 reviewed Receptor
P78527 BXGT011846 DNA-dependent protein kinase catalytic subunit 5591 reviewed Kinase
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q01081 BXGT012566 Splicing factor U2AF 35 kDa subunit 7307 reviewed
Q01094 BXGT012568 Transcription factor E2F1 1869 reviewed Nucleic acid binding
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q07108 BXGT012919 Early activation antigen CD69 969 reviewed
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q12882 BXGT013276 Dihydropyrimidine dehydrogenase [NADP(+)] 1806 reviewed Enzyme
Q13085 BXGT013309 Acetyl-CoA carboxylase 1 31 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13489 BXGT013364 Baculoviral IAP repeat-containing protein 3 330 reviewed Enzyme modulator
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13822 BXGT013396 Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 5168 reviewed Enzyme
Q14676 BXGT013497 Mediator of DNA damage checkpoint protein 1 9656 reviewed
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q14790 BXGT013505 Caspase-8 841 reviewed Enzyme
Q15389 BXGT013564 Angiopoietin-1 284 reviewed Signaling
Q15758 BXGT013594 Neutral amino acid transporter B(0) 6510 reviewed Transporter
Q15831 BXGT013604 Serine/threonine-protein kinase STK11 6794 reviewed Kinase
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q16873 BXGT013684 Leukotriene C4 synthase 4056 reviewed Enzyme
Q53GL7 BXGT015012 Protein mono-ADP-ribosyltransferase PARP10 84875 reviewed
Q5Y7D3 BXGT015912 HLA class II histocompatibility antigen DQ beta chain 3119 unreviewed
Q6IB77 BXGT016325 Glycine N-acyltransferase 10249 reviewed
Q7Z2E3 BXGT017246 Aprataxin 54840 reviewed Nucleic acid binding
Q8N8S7 BXGT018531 Protein enabled homolog 55740 reviewed
Q8NBJ7 BXGT018537 Inactive C-alpha-formylglycine-generating enzyme 2 25870 reviewed
Q8NCM8 BXGT018548 Cytoplasmic dynein 2 heavy chain 1 79659 reviewed Enzyme
Q8TEA8 BXGT018820 D-aminoacyl-tRNA deacylase 1 92675 reviewed Enzyme
Q8WVQ1 BXGT018996 Soluble calcium-activated nucleotidase 1 124583 reviewed
Q92900 BXGT019392 Regulator of nonsense transcripts 1 5976 reviewed Enzyme
Q92993 BXGT019403 Histone acetyltransferase KAT5 10524 reviewed
Q96A83 BXGT019616 Collagen alpha-1(XXVI) chain 136227 reviewed
Q96D42 BXGT019636 Hepatitis A virus cellular receptor 1 26762 reviewed
Q96F46 BXGT019656 Interleukin-17 receptor A 23765 reviewed
Q96S59 BXGT019739 Ran-binding protein 9 10048 reviewed Transporter
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q99581 BXGT019937 Protein FEV 54738 reviewed Transcription factor
Q9BQ15 BXGT020106 SOSS complex subunit B1 79035 reviewed Nucleic acid binding
Q9BYF1 BXGT020186 Angiotensin-converting enzyme 2 59272 reviewed Enzyme
Q9BYW2 BXGT020192 Histone-lysine N-methyltransferase SETD2 29072 reviewed Epigenetic regulator
Q9GZX6 BXGT020428 Interleukin-22 50616 reviewed
Q9NR12 BXGT021174 PDZ and LIM domain protein 7 9260 reviewed Cellular structure
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UNW8 BXGT021793 Probable G-protein coupled receptor 132 29933 reviewed G-protein coupled receptor
Q9UQ84 BXGT021807 Exonuclease 1 9156 reviewed Enzyme
Q9Y271 BXGT022222 Cysteinyl leukotriene receptor 1 10800 reviewed G-protein coupled receptor
Q9Y618 BXGT022315 Nuclear receptor corepressor 2 9612 reviewed Transcription factor
Q9H2H9 BXGT022646 Sodium-coupled neutral amino acid transporter 1 81539 reviewed Transporter
Q92911 BXGT022650 Sodium/iodide cotransporter 6528 reviewed Transporter
P20036 BXGT022764 HLA class II histocompatibility antigen, DP alpha 1 chain 3113 reviewed Immune response
Q9UNS1 BXGT022882 Protein timeless homolog 8914 reviewed
Q92878 BXGT023071 DNA repair protein RAD50 10111 reviewed
Q8IYW5 BXGT023493 E3 ubiquitin-protein ligase RNF168 165918 reviewed
P29590 BXGT024350 Protein PML 5371 reviewed
P16104 BXGT024571 Histone H2AX 3014 reviewed Nucleic acid binding
Q12888 BXGT024878 TP53-binding protein 1 7158 reviewed Epigenetic regulator
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P18858 BXGT025156 DNA ligase 1 3978 reviewed Enzyme
P07320 BXGT026150 Gamma-crystallin D 1421 reviewed
P21731 BXGT026174 Thromboxane A2 receptor 6915 reviewed G-protein coupled 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