Showing entry for Marinesco-Sjogren syndrome



                               
General Disease Information
BXGD IdBXGD001809
Disease NameMarinesco-Sjogren syndrome
Disease CUI IdC0024814
MeSH Codes C16   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O14684 BXGT004082 Prostaglandin E synthase 9536 reviewed
O60895 BXGT004907 Receptor activity-modifying protein 2 10266 reviewed Receptor
O75251 BXGT005107 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial 374291 reviewed
O95243 BXGT005362 Methyl-CpG-binding domain protein 4 8930 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P01732 BXGT005782 T-cell surface glycoprotein CD8 alpha chain 925 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04818 BXGT006269 Thymidylate synthase 7298 reviewed Enzyme
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06731 BXGT006488 Carcinoembryonic antigen-related cell adhesion molecule 5 1048 reviewed
P07333 BXGT006602 Macrophage colony-stimulating factor 1 receptor 1436 reviewed Kinase
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08581 BXGT006794 Hepatocyte growth factor receptor 4233 reviewed Kinase
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P11021 BXGT007644 Endoplasmic reticulum chaperone BiP 3309 reviewed
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P19320 BXGT008470 Vascular cell adhesion protein 1 7412 reviewed
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P27037 BXGT009153 Activin receptor type-2A 92 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29965 BXGT009388 CD40 ligand 959 reviewed Signaling
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P41279 BXGT010254 Mitogen-activated protein kinase kinase kinase 8 1326 reviewed Kinase
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P48735 BXGT010657 Isocitrate dehydrogenase [NADP], mitochondrial 3418 reviewed
P49327 BXGT010694 Fatty acid synthase 2194 reviewed Enzyme
P52333 BXGT010928 Tyrosine-protein kinase JAK3 3718 reviewed Kinase
P52701 BXGT010943 DNA mismatch repair protein Msh6 2956 reviewed Nucleic acid binding
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P68400 BXGT011599 Casein kinase II subunit alpha 1457 reviewed Kinase
Q07812 BXGT012940 Apoptosis regulator BAX 581 reviewed Signaling
Q12882 BXGT013276 Dihydropyrimidine dehydrogenase [NADP(+)] 1806 reviewed Enzyme
Q13637 BXGT013388 Ras-related protein Rab-32 10981 reviewed
Q495A1 BXGT014764 T-cell immunoreceptor with Ig and ITIM domains 201633 reviewed
Q6N021 BXGT016378 Methylcytosine dioxygenase TET2 54790 reviewed
Q7Z2E3 BXGT017246 Aprataxin 54840 reviewed Nucleic acid binding
Q8IWS0 BXGT018356 PHD finger protein 6 84295 reviewed Nucleic acid binding
Q8NI60 BXGT018572 Atypical kinase COQ8A, mitochondrial 56997 reviewed Kinase
Q96A58 BXGT019614 Ras-related and estrogen-regulated growth inhibitor 85004 reviewed Enzyme modulator
Q99623 BXGT019941 Prohibitin-2 11331 reviewed
Q9BXL7 BXGT020171 Caspase recruitment domain-containing protein 11 84433 reviewed
Q9NZJ5 BXGT021275 Eukaryotic translation initiation factor 2-alpha kinase 3 9451 reviewed Kinase
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UIV1 BXGT021722 CCR4-NOT transcription complex subunit 7 29883 reviewed Transcription factor
Q9UM73 BXGT021773 ALK tyrosine kinase receptor 238 reviewed Kinase
Q13029 BXGT022688 PR domain zinc finger protein 2 7799 reviewed
P43146 BXGT022852 Netrin receptor DCC 1630 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
O60232 BXGT024169 Protein ZNRD2 10534 reviewed
P29590 BXGT024350 Protein PML 5371 reviewed
P11836 BXGT025994 B-lymphocyte antigen CD20 931 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