Showing entry for MYOTONIC DYSTROPHY 1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018584
Disease NameMYOTONIC DYSTROPHY 1
Disease CUI IdC3250443
MeSH Codes C16   C05   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
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
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O14980 BXGT004119 Exportin-1 7514 reviewed Receptor
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
O15164 BXGT004133 Transcription intermediary factor 1-alpha 8805 reviewed
O15245 BXGT004141 Solute carrier family 22 member 1 6580 reviewed Transporter
O43612 BXGT004605 Orexin 3060 reviewed
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O75112 BXGT005099 LIM domain-binding protein 3 11155 reviewed Cellular structure
O75628 BXGT005140 GTP-binding protein REM 1 28954 reviewed
P00813 BXGT005667 Adenosine deaminase 100 reviewed Enzyme
P01034 BXGT005721 Cystatin-C 1471 reviewed
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P01909 BXGT005815 HLA class II histocompatibility antigen, DQ alpha 1 chain 3117 reviewed Immune response
P01920 BXGT005817 HLA class II histocompatibility antigen, DQ beta 1 chain 3119 reviewed Immune response
P02647 BXGT005908 Apolipoprotein A-I 335 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02655 BXGT005912 Apolipoprotein C-II 344 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P05187 BXGT006339 Alkaline phosphatase, placental type 250 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05771 BXGT006384 Protein kinase C beta type 5579 reviewed Kinase
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P06732 BXGT006489 Creatine kinase M-type 1158 reviewed Kinase
P07101 BXGT006547 Tyrosine 3-monooxygenase 7054 reviewed
P07339 BXGT006604 Cathepsin D 1509 reviewed Enzyme
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P10809 BXGT007617 60 kDa heat shock protein, mitochondrial 3329 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14210 BXGT007994 Hepatocyte growth factor 3082 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
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
P17252 BXGT008294 Protein kinase C alpha type 5578 reviewed Kinase
P17676 BXGT008327 CCAAT/enhancer-binding protein beta 1051 reviewed Transcription factor
P19429 BXGT008479 Troponin I, cardiac muscle 7137 reviewed Cellular structure
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P21860 BXGT008698 Receptor tyrosine-protein kinase erbB-3 2065 reviewed Kinase
P21980 BXGT008715 Protein-glutamine gamma-glutamyltransferase 2 7052 reviewed Enzyme
P24593 BXGT008979 Insulin-like growth factor-binding protein 5 3488 reviewed Enzyme modulator
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P26196 BXGT009089 Probable ATP-dependent RNA helicase DDX6 1656 reviewed
P27708 BXGT009202 CAD protein 790 reviewed Enzyme
P31943 BXGT009587 Heterogeneous nuclear ribonucleoprotein H 3187 reviewed Nucleic acid binding
P36222 BXGT009914 Chitinase-3-like protein 1 1116 reviewed
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P49841 BXGT010750 Glycogen synthase kinase-3 beta 2932 reviewed Kinase
P51681 BXGT010878 C-C chemokine receptor type 5 1234 reviewed G-protein coupled receptor
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P52952 BXGT010966 Homeobox protein Nkx-2.5 1482 reviewed Transcription factor
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P55040 BXGT011099 GTP-binding protein GEM 2669 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q01959 BXGT012624 Sodium-dependent dopamine transporter 6531 reviewed Transporter
Q05329 BXGT012814 Glutamate decarboxylase 2 2572 reviewed Enzyme
Q07157 BXGT012920 Tight junction protein ZO-1 7082 reviewed Cell-cell junction
Q09013 BXGT013023 Myotonin-protein kinase 1760 reviewed Kinase
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q13467 BXGT013358 Frizzled-5 7855 reviewed G-protein coupled receptor
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q14524 BXGT013478 Sodium channel protein type 5 subunit alpha 6331 reviewed Ion channel
Q15109 BXGT013537 Advanced glycosylation end product-specific receptor 177 reviewed Receptor
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q5VZ30 BXGT015894 Glutamate decarboxylase 2 (Pancreatic islets and brain, 65kDa) 2572 unreviewed
Q5Y7D3 BXGT015912 HLA class II histocompatibility antigen DQ beta chain 3119 unreviewed
Q7L266 BXGT016993 Isoaspartyl peptidase/L-asparaginase 80150 reviewed Enzyme
Q7Z406 BXGT017251 Myosin-14 79784 reviewed
Q8N6T7 BXGT018525 NAD-dependent protein deacetylase sirtuin-6 51548 reviewed Epigenetic regulator
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q9H0A0 BXGT020434 RNA cytidine acetyltransferase 55226 reviewed
Q9HC98 BXGT020528 Serine/threonine-protein kinase Nek6 10783 reviewed Kinase
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
Q9NR56 BXGT021179 Muscleblind-like protein 1 4154 reviewed Nucleic acid binding
Q9NWB1 BXGT021231 RNA binding protein fox-1 homolog 1 54715 reviewed Nucleic acid binding
Q9NYK1 BXGT021258 Toll-like receptor 7 51284 reviewed
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UHF0 BXGT021699 Tachykinin-3 6866 reviewed
Q9UHX1 BXGT021707 Poly(U)-binding-splicing factor PUF60 22827 reviewed
Q9UPN9 BXGT021799 E3 ubiquitin-protein ligase TRIM33 51592 reviewed
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
P00738 BXGT022874 Haptoglobin 3240 reviewed Enzyme
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
P16615 BXGT023653 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 488 reviewed Transporter
P35523 BXGT023831 Chloride channel protein 1 1180 reviewed Ion channel
Q9UBU8 BXGT024354 Mortality factor 4-like protein 1 10933 reviewed Nucleic acid binding
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
P19474 BXGT025520 E3 ubiquitin-protein ligase TRIM21 6737 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