Showing entry for Skin Abnormalities


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002675
Disease NameSkin Abnormalities
Disease CUI IdC0037268
MeSH Codes C16   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0001574  
Human Phenotype Ontology TermAbnormality of the integument
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
O00522 BXGT003935 Krev interaction trapped protein 1 889 reviewed
O14727 BXGT004084 Apoptotic protease-activating factor 1 317 reviewed
O15111 BXGT004126 Inhibitor of nuclear factor kappa-B kinase subunit alpha 1147 reviewed Kinase
O15269 BXGT004145 Serine palmitoyltransferase 1 10558 reviewed Enzyme
O95864 BXGT005403 Acyl-CoA 6-desaturase 9415 reviewed
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P02545 BXGT005889 Prelamin-A/C 4000 reviewed
P02654 BXGT005911 Apolipoprotein C-I 341 reviewed
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P11473 BXGT007709 Vitamin D3 receptor 7421 reviewed Nuclear receptor
P14923 BXGT008069 Junction plakoglobin 3728 reviewed
P17735 BXGT008335 Tyrosine aminotransferase 6898 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P19113 BXGT008458 Histidine decarboxylase 3067 reviewed
P20309 BXGT008562 Muscarinic acetylcholine receptor M3 1131 reviewed G-protein coupled receptor
P20930 BXGT008616 Filaggrin 2312 reviewed Cellular structure
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P31939 BXGT009584 Bifunctional purine biosynthesis protein PURH 471 reviewed Enzyme
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37268 BXGT009975 Squalene synthase 2222 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P43235 BXGT010368 Cathepsin K 1513 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P48449 BXGT010632 Lanosterol synthase 4047 reviewed
P53634 BXGT011007 Dipeptidyl peptidase 1 1075 reviewed Enzyme
P61160 BXGT011365 Actin-related protein 2 10097 reviewed Cellular structure
P80075 BXGT011876 C-C motif chemokine 8 6355 reviewed Signaling
Q12794 BXGT013265 Hyaluronidase-1 3373 reviewed Enzyme
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q8IYB8 BXGT018365 ATP-dependent RNA helicase SUPV3L1, mitochondrial 6832 reviewed
Q8NET8 BXGT018557 Transient receptor potential cation channel subfamily V member 3 162514 reviewed Ion channel
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q99835 BXGT019969 Smoothened homolog 6608 reviewed G-protein coupled receptor
Q9H6X2 BXGT020486 Anthrax toxin receptor 1 84168 reviewed Receptor
Q9UBV7 BXGT021665 Beta-1,4-galactosyltransferase 7 11285 reviewed
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y5Y6 BXGT022308 Suppressor of tumorigenicity 14 protein 6768 reviewed Enzyme
P35240 BXGT022927 Merlin 4771 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q9UKU9 BXGT025985 Angiopoietin-related protein 2 23452 reviewed Signaling
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