Showing entry for Congenital ear anomaly NOS (disorder)


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD005698
Disease NameCongenital ear anomaly NOS (disorder)
Disease CUI IdC0266589
MeSH Codes C16   C13   C09  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id HP:0000598  
Human Phenotype Ontology TermAbnormality of the ear
Disease Ontology Id   
Disease Ontology Class Name
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
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P01308 BXGT005749 Insulin 3630 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07437 BXGT006624 Tubulin beta chain 203068 reviewed Cellular structure
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08754 BXGT006820 Guanine nucleotide-binding protein G(i) subunit alpha 2773 reviewed Enzyme modulator
P10721 BXGT007605 Mast/stem cell growth factor receptor Kit 3815 reviewed Kinase
P11912 BXGT007758 B-cell antigen receptor complex-associated protein alpha chain 973 reviewed Receptor
P15814 BXGT008159 Immunoglobulin lambda-like polypeptide 1 3543 reviewed
P16157 BXGT008203 Ankyrin-1 286 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P27986 BXGT009216 Phosphatidylinositol 3-kinase regulatory subunit alpha 5295 reviewed Kinase
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P32929 BXGT009682 Cystathionine gamma-lyase 1491 reviewed Enzyme
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35557 BXGT009846 Glucokinase 2645 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P41222 BXGT010237 Prostaglandin-H2 D-isomerase 5730 reviewed Enzyme
P41227 BXGT010238 N-alpha-acetyltransferase 10 8260 reviewed Enzyme
P50542 BXGT010808 Peroxisomal targeting signal 1 receptor 5830 reviewed Transporter
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P78508 BXGT011845 ATP-sensitive inward rectifier potassium channel 10 3766 reviewed Ion channel
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q06609 BXGT012884 DNA repair protein RAD51 homolog 1 5888 reviewed
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q12756 BXGT013261 Kinesin-like protein KIF1A 547 reviewed Cellular structure
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q15223 BXGT013551 Nectin-1 5818 reviewed
Q6PCD5 BXGT016464 E3 ubiquitin-protein ligase RFWD3 55159 reviewed Enzyme
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q8IYD8 BXGT018367 Fanconi anemia group M protein 57697 reviewed Enzyme
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q9HC29 BXGT020526 Nucleotide-binding oligomerization domain-containing protein 2 64127 reviewed Enzyme
Q9NPD8 BXGT021152 Ubiquitin-conjugating enzyme E2 T 29089 reviewed
Q9NPI8 BXGT021161 Fanconi anemia group F protein 2188 reviewed
Q9NW38 BXGT021230 E3 ubiquitin-protein ligase FANCL 55120 reviewed Enzyme
Q9UI95 BXGT021714 Mitotic spindle assembly checkpoint protein MAD2B 10459 reviewed
Q01543 BXGT023137 Friend leukemia integration 1 transcription factor 2313 reviewed Transcription factor
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 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