Showing entry for Miller Dieker syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005468
Disease NameMiller Dieker syndrome
Disease CUI IdC0265219
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   DOID:225  
Disease Ontology Class Namegenetic disease; syndrome
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
O00142 BXGT003883 Thymidine kinase 2, mitochondrial 7084 reviewed Kinase
O14656 BXGT004080 Torsin-1A 1861 reviewed Chaperone
O14727 BXGT004084 Apoptotic protease-activating factor 1 317 reviewed
O60603 BXGT004887 Toll-like receptor 2 7097 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P00519 BXGT005570 Tyrosine-protein kinase ABL1 25 reviewed Kinase
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01589 BXGT005773 Interleukin-2 receptor subunit alpha 3559 reviewed Receptor
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04732 BXGT006252 Metallothionein-1E 4493 reviewed
P05230 BXGT006344 Fibroblast growth factor 1 2246 reviewed Signaling
P06748 BXGT006497 Nucleophosmin 4869 reviewed Chaperone
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P10144 BXGT007541 Granzyme B 3002 reviewed Enzyme
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10276 BXGT007553 Retinoic acid receptor alpha 5914 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11274 BXGT007681 Breakpoint cluster region protein 613 reviewed Enzyme modulator
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15884 BXGT008166 Transcription factor 4 6925 reviewed Transcription factor
P16144 BXGT008200 Integrin beta-4 3691 reviewed Receptor
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P19174 BXGT008467 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 5335 reviewed Enzyme
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P22681 BXGT008795 E3 ubiquitin-protein ligase CBL 867 reviewed Enzyme
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P25025 BXGT009006 C-X-C chemokine receptor type 2 3579 reviewed G-protein coupled receptor
P27707 BXGT009201 Deoxycytidine kinase 1633 reviewed Kinase
P28072 BXGT009231 Proteasome subunit beta type-6 5694 reviewed
P28907 BXGT009301 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 952 reviewed Enzyme
P30711 BXGT009460 Glutathione S-transferase theta-1 2952 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35499 BXGT009839 Sodium channel protein type 4 subunit alpha 6329 reviewed Ion channel
P36888 BXGT009938 Receptor-type tyrosine-protein kinase FLT3 2322 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P38936 BXGT010074 Cyclin-dependent kinase inhibitor 1 1026 reviewed
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46527 BXGT010525 Cyclin-dependent kinase inhibitor 1B 1027 reviewed
P47736 BXGT010579 Rap1 GTPase-activating protein 1 5909 reviewed Enzyme modulator
P49913 BXGT010761 Cathelicidin antimicrobial peptide 820 reviewed
P53350 BXGT010984 Serine/threonine-protein kinase PLK1 5347 reviewed Kinase
P53355 BXGT010985 Death-associated protein kinase 1 1612 reviewed Kinase
P54132 BXGT011032 Bloom syndrome protein 641 reviewed
P55040 BXGT011099 GTP-binding protein GEM 2669 reviewed
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
P60568 BXGT011315 Interleukin-2 3558 reviewed
P62258 BXGT011415 14-3-3 protein epsilon 7531 reviewed Chaperone
P78358 BXGT011838 Cancer/testis antigen 1 246100 reviewed
Q01081 BXGT012566 Splicing factor U2AF 35 kDa subunit 7307 reviewed
Q01196 BXGT012575 Runt-related transcription factor 1 861 reviewed Transcription factor
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q04206 BXGT012754 Transcription factor p65 5970 reviewed Transcription factor
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q07820 BXGT012942 Induced myeloid leukemia cell differentiation protein Mcl-1 4170 reviewed Signaling
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q14527 BXGT013479 Helicase-like transcription factor 6596 reviewed
Q15910 BXGT013612 Histone-lysine N-methyltransferase EZH2 2146 reviewed Epigenetic regulator
Q16665 BXGT013653 Hypoxia-inducible factor 1-alpha 3091 reviewed Transcription factor
Q30201 BXGT014297 Hereditary hemochromatosis protein 3077 reviewed
Q6N021 BXGT016378 Methylcytosine dioxygenase TET2 54790 reviewed
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q8IYD8 BXGT018367 Fanconi anemia group M protein 57697 reviewed Enzyme
Q96AZ6 BXGT019621 Interferon-stimulated gene 20 kDa protein 3669 reviewed
Q99497 BXGT019926 Protein/nucleic acid deglycase DJ-1 11315 reviewed Enzyme
Q99828 BXGT019967 Calcium and integrin-binding protein 1 10519 reviewed
Q9H4A3 BXGT020473 Serine/threonine-protein kinase WNK1 65125 reviewed Kinase
Q9HD36 BXGT020541 Bcl-2-like protein 10 10017 reviewed Signaling
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9P212 BXGT021297 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 51196 reviewed Enzyme
Q9UHD8 BXGT021698 Septin-9 10801 reviewed Enzyme modulator
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q9UJV9 BXGT021731 Probable ATP-dependent RNA helicase DDX41 51428 reviewed
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
P20138 BXGT023857 Myeloid cell surface antigen CD33 945 reviewed Receptor
Q9BQQ3 BXGT024065 Golgi reassembly-stacking protein 1 64689 reviewed
Q9HCK4 BXGT024280 Roundabout homolog 2 6092 reviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 reviewed
Q9UNE7 BXGT025000 E3 ubiquitin-protein ligase CHIP 10273 reviewed
P31358 BXGT025061 CAMPATH-1 antigen 1043 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q05086 BXGT025648 Ubiquitin-protein ligase E3A 7337 reviewed
P62263 BXGT026033 40S ribosomal protein S14 6208 reviewed Nucleic acid binding
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