Showing entry for LEOPARD Syndrome



                               
General Disease Information
BXGD IdBXGD004010
Disease NameLEOPARD Syndrome
Disease CUI IdC0175704
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  
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 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
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P10301 BXGT007556 Ras-related protein R-Ras 6237 reviewed Enzyme modulator
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15924 BXGT008171 Desmoplakin 1832 reviewed Cellular structure
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P24666 BXGT008986 Low molecular weight phosphotyrosine protein phosphatase 52 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29317 BXGT009331 Ephrin type-A receptor 2 1969 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
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
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P60484 BXGT011307 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 5728 reviewed Enzyme
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
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