Showing entry for Schwartz-Jampel Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002608
Disease NameSchwartz-Jampel Syndrome
Disease CUI IdC0036391
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
O14773 BXGT004096 Tripeptidyl-peptidase 1 1200 reviewed Enzyme
O15455 BXGT004171 Toll-like receptor 3 7098 reviewed Receptor
O43557 BXGT004600 Tumor necrosis factor ligand superfamily member 14 8740 reviewed Signaling
O60271 BXGT004866 C-Jun-amino-terminal kinase-interacting protein 4 9043 reviewed Enzyme modulator
O60603 BXGT004887 Toll-like receptor 2 7097 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01889 BXGT005809 HLA class I histocompatibility antigen, B-7 alpha chain 3106 reviewed
P01911 BXGT005816 HLA class II histocompatibility antigen, DRB1-15 beta chain 3123 reviewed Immune response
P01920 BXGT005817 HLA class II histocompatibility antigen, DQ beta 1 chain 3119 reviewed Immune response
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P04083 BXGT006147 Annexin A1 301 reviewed
P07099 BXGT006546 Epoxide hydrolase 1 2052 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08603 BXGT006798 Complement factor H 3075 reviewed
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P09488 BXGT006899 Glutathione S-transferase Mu 1 2944 reviewed
P10144 BXGT007541 Granzyme B 3002 reviewed Enzyme
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P11712 BXGT007738 Cytochrome P450 2C9 1559 reviewed
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15924 BXGT008171 Desmoplakin 1832 reviewed Cellular structure
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P21333 BXGT008638 Filamin-A 2316 reviewed
P21730 BXGT008687 C5a anaphylatoxin chemotactic receptor 1 728 reviewed G-protein coupled receptor
P22303 BXGT008751 Acetylcholinesterase 43 reviewed Enzyme
P22749 BXGT008803 Granulysin 10578 reviewed
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P33261 BXGT009707 Cytochrome P450 2C19 1557 reviewed
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P43115 BXGT010356 Prostaglandin E2 receptor EP3 subtype 5733 reviewed G-protein coupled receptor
P48023 BXGT010604 Tumor necrosis factor ligand superfamily member 6 356 reviewed Signaling
P51688 BXGT010883 N-sulphoglucosamine sulphohydrolase 6448 reviewed Enzyme
P55789 BXGT011126 FAD-linked sulfhydryl oxidase ALR 2671 reviewed Enzyme
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q13427 BXGT013354 Peptidyl-prolyl cis-trans isomerase G 9360 reviewed
Q5Y7D3 BXGT015912 HLA class II histocompatibility antigen DQ beta chain 3119 unreviewed
Q9BZ23 BXGT020194 Pantothenate kinase 2, mitochondrial 80025 reviewed Kinase
Q9HBA0 BXGT020516 Transient receptor potential cation channel subfamily V member 4 59341 reviewed Ion channel
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
P46379 BXGT023748 Large proline-rich protein BAG6 7917 reviewed Enzyme modulator
Q96QC4 BXGT023878 MHC class I polypeptide-related sequence A 100507436 unreviewed
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