Showing entry for Avellino corneal dystrophy


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD012092
Disease NameAvellino corneal dystrophy
Disease CUI IdC1275685
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
O00206 BXGT003894 Toll-like receptor 4 7099 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75460 BXGT005127 Serine/threonine-protein kinase/endoribonuclease IRE1 2081 reviewed Kinase
O75762 BXGT005151 Transient receptor potential cation channel subfamily A member 1 8989 reviewed Ion channel
O95257 BXGT005365 Growth arrest and DNA damage-inducible protein GADD45 gamma 10912 reviewed
P01100 BXGT005727 Proto-oncogene c-Fos 2353 reviewed Transcription factor
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05231 BXGT006345 Interleukin-6 3569 reviewed
P05412 BXGT006354 Transcription factor AP-1 3725 reviewed Transcription factor
P06126 BXGT006412 T-cell surface glycoprotein CD1a 909 reviewed
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P10600 BXGT007584 Transforming growth factor beta-3 proprotein 7043 reviewed Signaling
P11021 BXGT007644 Endoplasmic reticulum chaperone BiP 3309 reviewed
P11597 BXGT007727 Cholesteryl ester transfer protein 1071 reviewed
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P15813 BXGT008158 Antigen-presenting glycoprotein CD1d 912 reviewed
P17861 BXGT008348 X-box-binding protein 1 7494 reviewed
P18827 BXGT008427 Syndecan-1 6382 reviewed Extracellular structure
P18848 BXGT008432 Cyclic AMP-dependent transcription factor ATF-4 468 reviewed
P19525 BXGT008492 Interferon-induced, double-stranded RNA-activated protein kinase 5610 reviewed Kinase
P20930 BXGT008616 Filaggrin 2312 reviewed Cellular structure
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29016 BXGT009304 T-cell surface glycoprotein CD1b 910 reviewed
P29017 BXGT009305 T-cell surface glycoprotein CD1c 911 reviewed
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P32320 BXGT009622 Cytidine deaminase 978 reviewed Enzyme
P32754 BXGT009664 4-hydroxyphenylpyruvate dioxygenase 3242 reviewed Enzyme
P34972 BXGT009779 Cannabinoid receptor 2 1269 reviewed G-protein coupled receptor
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41597 BXGT010268 C-C chemokine receptor type 2 729230 reviewed
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P56817 BXGT011200 Beta-secretase 1 23621 reviewed Enzyme
P80075 BXGT011876 C-C motif chemokine 8 6355 reviewed Signaling
Q02127 BXGT012635 Dihydroorotate dehydrogenase (quinone), mitochondrial 1723 reviewed Enzyme
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13873 BXGT013398 Bone morphogenetic protein receptor type-2 659 reviewed Kinase
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15582 BXGT013581 Transforming growth factor-beta-induced protein ig-h3 7045 reviewed Signaling
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q96LB1 BXGT019692 Mas-related G-protein coupled receptor member X2 117194 reviewed G-protein coupled receptor
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q9BXA5 BXGT020163 Succinate receptor 1 56670 reviewed G-protein coupled receptor
Q9GZX6 BXGT020428 Interleukin-22 50616 reviewed
Q9UKV8 BXGT021752 Protein argonaute-2 27161 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
P17535 BXGT023437 Transcription factor jun-D 3727 reviewed Transcription factor
P53539 BXGT023438 Protein fosB 2354 reviewed Transcription factor
Q13007 BXGT023883 Interleukin-24 11009 reviewed
Q969H8 BXGT025606 Myeloid-derived growth factor 56005 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