Showing entry for Opitz GBBB Syndrome, X-Linked


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018150
Disease NameOpitz GBBB Syndrome, X-Linked
Disease CUI IdC2936904
MeSH Codes C16   C13   C05   C12   C07  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic 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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O15553 BXGT004181 Pyrin 4210 reviewed
O43318 BXGT004586 Mitogen-activated protein kinase kinase kinase 7 6885 reviewed Kinase
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07225 BXGT006572 Vitamin K-dependent protein S 5627 reviewed
P07288 BXGT006591 Prostate-specific antigen 354 reviewed Enzyme
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P09601 BXGT006909 Heme oxygenase 1 3162 reviewed
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P13726 BXGT007950 Tissue factor 2152 reviewed Receptor
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P36955 BXGT009946 Pigment epithelium-derived factor 5176 reviewed Enzyme modulator
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
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49116 BXGT010678 Nuclear receptor subfamily 2 group C member 2 7182 reviewed Nuclear receptor
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P52789 BXGT010954 Hexokinase-2 3099 reviewed Kinase
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P55786 BXGT011125 Puromycin-sensitive aminopeptidase 9520 reviewed Enzyme
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P67775 BXGT011563 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 5515 reviewed
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q14145 BXGT013448 Kelch-like ECH-associated protein 1 9817 reviewed
Q15257 BXGT013554 Serine/threonine-protein phosphatase 2A activator 5524 reviewed Enzyme modulator
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q92547 BXGT019355 DNA topoisomerase 2-binding protein 1 11073 reviewed
Q9Y219 BXGT022206 Protein jagged-2 3714 reviewed
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q9H611 BXGT024211 ATP-dependent DNA helicase PIF1 80119 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