Showing entry for Shprintzen-Goldberg syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD012436
Disease NameShprintzen-Goldberg syndrome
Disease CUI IdC1321551
MeSH Codes C16   C17   C05   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease 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
O14791 BXGT004101 Apolipoprotein L1 8542 reviewed Transporter
O15119 BXGT004128 T-box transcription factor TBX3 6926 reviewed Transcription factor
O15353 BXGT004155 Forkhead box protein N1 8456 reviewed
O43246 BXGT004577 Cationic amino acid transporter 4 6545 reviewed Transporter
O43272 BXGT004580 Proline dehydrogenase 1, mitochondrial 5625 reviewed Enzyme
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15153 BXGT008090 Ras-related C3 botulinum toxin substrate 2 5880 reviewed Enzyme modulator
P15289 BXGT008102 Arylsulfatase A 410 reviewed Enzyme
P21964 BXGT008714 Catechol O-methyltransferase 1312 reviewed Enzyme
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P41279 BXGT010254 Mitogen-activated protein kinase kinase kinase 8 1326 reviewed Kinase
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P43487 BXGT010393 Ran-specific GTPase-activating protein 5902 reviewed Enzyme modulator
P49888 BXGT010756 Estrogen sulfotransferase 6783 reviewed
P60568 BXGT011315 Interleukin-2 3558 reviewed
Q02083 BXGT012633 N-acylethanolamine-hydrolyzing acid amidase 27163 reviewed Enzyme
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q99593 BXGT019939 T-box transcription factor TBX5 6910 reviewed Transcription factor
Q9UBS0 BXGT026113 Ribosomal protein S6 kinase beta-2 6199 reviewed Kinase
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