Showing entry for Seckel syndrome



                               
General Disease Information
BXGD IdBXGD005461
Disease NameSeckel syndrome
Disease CUI IdC0265202
MeSH Codes C23   C16   C05   C10   C19  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7   DOID:225   DOID:150  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; syndrome; disease of mental health
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
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
O14757 BXGT004092 Serine/threonine-protein kinase Chk1 1111 reviewed Kinase
O43929 BXGT004638 Origin recognition complex subunit 4 5000 reviewed Nucleic acid binding
O75496 BXGT005132 Geminin 51053 reviewed
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P16930 BXGT008272 Fumarylacetoacetase 2184 reviewed
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P49917 BXGT010765 DNA ligase 4 3981 reviewed
Q02224 BXGT012643 Centromere-associated protein E 1062 reviewed Cellular structure
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q07108 BXGT012919 Early activation antigen CD69 969 reviewed
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13415 BXGT013350 Origin recognition complex subunit 1 4998 reviewed Nucleic acid binding
Q13426 BXGT013353 DNA repair protein XRCC4 7518 reviewed
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q4G0J3 BXGT014809 La-related protein 7 51574 reviewed Nucleic acid binding
Q8NEM0 BXGT018555 Microcephalin 79648 reviewed Nucleic acid binding
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q96T60 BXGT019745 Bifunctional polynucleotide phosphatase/kinase 11284 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
P16104 BXGT024571 Histone H2AX 3014 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