Showing entry for Congenital small ears


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003587
Disease NameCongenital small ears
Disease CUI IdC0152423
MeSH Codes C16   C09  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
A4D126 BXGT001208 D-ribitol-5-phosphate cytidylyltransferase 729920 reviewed
A5YKK6 BXGT001378 CCR4-NOT transcription complex subunit 1 23019 reviewed Transcription factor
O14764 BXGT004094 Gamma-aminobutyric acid receptor subunit delta 2563 reviewed Ion channel
O15550 BXGT004179 Lysine-specific demethylase 6A 7403 reviewed Epigenetic regulator
O43929 BXGT004638 Origin recognition complex subunit 4 5000 reviewed Nucleic acid binding
O75496 BXGT005132 Geminin 51053 reviewed
O75844 BXGT005156 CAAX prenyl protease 1 homolog 10269 reviewed Enzyme
O94766 BXGT005330 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 26229 reviewed Enzyme
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P08754 BXGT006820 Guanine nucleotide-binding protein G(i) subunit alpha 2773 reviewed Enzyme modulator
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P20933 BXGT008618 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 175 reviewed Enzyme
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P25101 BXGT009018 Endothelin-1 receptor 1909 reviewed G-protein coupled receptor
P38919 BXGT010072 Eukaryotic initiation factor 4A-III 9775 reviewed
P39019 BXGT010082 40S ribosomal protein S19 6223 reviewed Nucleic acid binding
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P46100 BXGT010508 Transcriptional regulator ATRX 546 reviewed
P61978 BXGT011399 Heterogeneous nuclear ribonucleoprotein K 3190 reviewed Enzyme
P62857 BXGT011466 40S ribosomal protein S28 6234 reviewed Nucleic acid binding
Q01668 BXGT012605 Voltage-dependent L-type calcium channel subunit alpha-1D 776 reviewed Ion channel
Q02127 BXGT012635 Dihydroorotate dehydrogenase (quinone), mitochondrial 1723 reviewed Enzyme
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q12830 BXGT013268 Nucleosome-remodeling factor subunit BPTF 2186 reviewed
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13303 BXGT013336 Voltage-gated potassium channel subunit beta-2 8514 reviewed Ion channel
Q13415 BXGT013350 Origin recognition complex subunit 1 4998 reviewed Nucleic acid binding
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q13627 BXGT013385 Dual specificity tyrosine-phosphorylation-regulated kinase 1A 1859 reviewed Kinase
Q15029 BXGT013524 116 kDa U5 small nuclear ribonucleoprotein component 9343 reviewed Enzyme
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q8WTS1 BXGT018985 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 51099 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9NS87 BXGT021201 Kinesin-like protein KIF15 56992 reviewed Cellular structure
Q9Y5W5 BXGT022303 Wnt inhibitory factor 1 11197 reviewed Calcium-binding protein
P56703 BXGT023722 Proto-oncogene Wnt-3 7473 reviewed Signaling
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
P38646 BXGT024954 Stress-70 protein, mitochondrial 3313 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