Showing entry for Klinefelter Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD001581
Disease NameKlinefelter Syndrome
Disease CUI IdC0022735
MeSH Codes C16   C13   C12   C19  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System 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
O14786 BXGT004099 Neuropilin-1 8829 reviewed
O14788 BXGT004100 Tumor necrosis factor ligand superfamily member 11 8600 reviewed Signaling
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O60462 BXGT004876 Neuropilin-2 8828 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75469 BXGT005128 Nuclear receptor subfamily 1 group I member 2 8856 reviewed Nuclear receptor
O76074 BXGT005174 cGMP-specific 3',5'-cyclic phosphodiesterase 8654 reviewed
O95718 BXGT005392 Steroid hormone receptor ERR2 2103 reviewed Nuclear receptor
P00450 BXGT005544 Ceruloplasmin 1356 reviewed Enzyme
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P00734 BXGT005630 Prothrombin 2147 reviewed Enzyme
P01009 BXGT005714 Alpha-1-antitrypsin 5265 reviewed Enzyme modulator
P01148 BXGT005739 Progonadoliberin-1 2796 reviewed
P01189 BXGT005742 Pro-opiomelanocortin 5443 reviewed
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P04004 BXGT006125 Vitronectin 7448 reviewed
P04278 BXGT006182 Sex hormone-binding globulin 6462 reviewed
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P07225 BXGT006572 Vitamin K-dependent protein S 5627 reviewed
P07288 BXGT006591 Prostate-specific antigen 354 reviewed Enzyme
P08476 BXGT006774 Inhibin beta A chain 3624 reviewed Signaling
P08842 BXGT006830 Steryl-sulfatase 412 reviewed Enzyme
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P09936 BXGT006943 Ubiquitin carboxyl-terminal hydrolase isozyme L1 7345 reviewed Enzyme
P10275 BXGT007552 Androgen receptor 367 reviewed Nuclear receptor
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P13569 BXGT007923 Cystic fibrosis transmembrane conductance regulator 1080 reviewed Ion channel
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P19801 BXGT008516 Amiloride-sensitive amine oxidase [copper-containing] 26 reviewed
P19838 BXGT008526 Nuclear factor NF-kappa-B p105 subunit 4790 reviewed Transcription factor
P21397 BXGT008644 Amine oxidase [flavin-containing] A 4128 reviewed
P25116 BXGT009025 Proteinase-activated receptor 1 2149 reviewed G-protein coupled receptor
P25311 BXGT009036 Zinc-alpha-2-glycoprotein 563 reviewed
P25440 BXGT009044 Bromodomain-containing protein 2 6046 reviewed Epigenetic regulator
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P26447 BXGT009114 Protein S100-A4 6275 reviewed Calcium-binding protein
P29622 BXGT009370 Kallistatin 5267 reviewed Enzyme modulator
P30530 BXGT009431 Tyrosine-protein kinase receptor UFO 558 reviewed Kinase
P32245 BXGT009614 Melanocortin receptor 4 4160 reviewed G-protein coupled receptor
P35610 BXGT009855 Sterol O-acyltransferase 1 6646 reviewed Enzyme
P41229 BXGT010239 Lysine-specific demethylase 5C 8242 reviewed
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P48357 BXGT010627 Leptin receptor 3953 reviewed Signaling
P51843 BXGT010897 Nuclear receptor subfamily 0 group B member 1 190 reviewed Nuclear receptor
P55786 BXGT011125 Puromycin-sensitive aminopeptidase 9520 reviewed Enzyme
Q01453 BXGT012588 Peripheral myelin protein 22 5376 reviewed Cellular structure
Q06418 BXGT012875 Tyrosine-protein kinase receptor TYRO3 7301 reviewed Kinase
Q06787 BXGT012890 Synaptic functional regulator FMR1 2332 reviewed Nucleic acid binding
Q13283 BXGT013334 Ras GTPase-activating protein-binding protein 1 10146 reviewed Nucleic acid binding
Q13285 BXGT013335 Steroidogenic factor 1 2516 reviewed Nuclear receptor
Q13509 BXGT013366 Tubulin beta-3 chain 10381 reviewed Cellular structure
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q15125 BXGT013543 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 10682 reviewed Enzyme
Q16769 BXGT013665 Glutaminyl-peptide cyclotransferase 25797 reviewed Enzyme
Q6WRI0 BXGT016596 Immunoglobulin superfamily member 10 285313 reviewed
Q92731 BXGT019366 Estrogen receptor beta 2100 reviewed Nuclear receptor
Q99527 BXGT019930 G-protein coupled estrogen receptor 1 2852 reviewed G-protein coupled receptor
Q99638 BXGT019943 Cell cycle checkpoint control protein RAD9A 5883 reviewed Enzyme modulator
Q9NYK1 BXGT021258 Toll-like receptor 7 51284 reviewed
Q9NZN1 BXGT021279 Interleukin-1 receptor accessory protein-like 1 11141 reviewed Receptor
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UHF0 BXGT021699 Tachykinin-3 6866 reviewed
Q9UQB9 BXGT021810 Aurora kinase C 6795 reviewed Kinase
Q9Y617 BXGT022314 Phosphoserine aminotransferase 29968 reviewed
Q9Y6K9 BXGT022333 NF-kappa-B essential modulator 8517 reviewed Kinase
O14793 BXGT023280 Growth/differentiation factor 8 2660 reviewed Signaling
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
Q8TAB3 BXGT025819 Protocadherin-19 57526 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