Showing entry for Aplasia/Hypoplasia of the cerebellum


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018751
Disease NameAplasia/Hypoplasia of the cerebellum
Disease CUI IdC3279222
MeSH Codes   
Disease Class Name
Semantic TypeFinding
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00444 BXGT003921 Serine/threonine-protein kinase PLK4 10733 reviewed Kinase
O43683 BXGT004614 Mitotic checkpoint serine/threonine-protein kinase BUB1 699 reviewed Kinase
O60566 BXGT004884 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 701 reviewed Kinase
O75899 BXGT005161 Gamma-aminobutyric acid type B receptor subunit 2 9568 reviewed G-protein coupled receptor
O76039 BXGT005171 Cyclin-dependent kinase-like 5 6792 reviewed Kinase
O96028 BXGT005417 Histone-lysine N-methyltransferase NSD2 7468 reviewed Epigenetic regulator
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P03886 BXGT006108 NADH-ubiquinone oxidoreductase chain 1 4535 reviewed Enzyme
P03905 BXGT006113 NADH-ubiquinone oxidoreductase chain 4 4538 reviewed Enzyme
P03915 BXGT006114 NADH-ubiquinone oxidoreductase chain 5 4540 reviewed Enzyme
P03923 BXGT006115 NADH-ubiquinone oxidoreductase chain 6 4541 reviewed
P04350 BXGT006193 Tubulin beta-4A chain 10382 reviewed Cellular structure
P11362 BXGT007693 Fibroblast growth factor receptor 1 2260 reviewed Kinase
P17050 BXGT008277 Alpha-N-acetylgalactosaminidase 4668 reviewed
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P51532 BXGT010852 Transcription activator BRG1 6597 reviewed Epigenetic regulator
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
Q00604 BXGT012538 Norrin 4693 reviewed
Q03164 BXGT012700 Histone-lysine N-methyltransferase 2A 4297 reviewed
Q03468 BXGT012716 DNA excision repair protein ERCC-6 2074 reviewed
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q14683 BXGT013500 Structural maintenance of chromosomes protein 1A 8243 reviewed
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q495M9 BXGT014765 Usher syndrome type-1G protein 124590 reviewed
Q8NFD5 BXGT018560 AT-rich interactive domain-containing protein 1B 57492 reviewed
Q8WZA1 BXGT019024 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 55624 reviewed
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96QU1 BXGT019721 Protocadherin-15 65217 reviewed
Q9BY41 BXGT020180 Histone deacetylase 8 55869 reviewed Epigenetic regulator
Q9H251 BXGT020449 Cadherin-23 64072 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9UBM7 BXGT021657 7-dehydrocholesterol reductase 1717 reviewed Enzyme
Q9UGJ1 BXGT021684 Gamma-tubulin complex component 4 27229 reviewed Cellular structure
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q9Y2I2 BXGT022236 Netrin-G1 22854 reviewed Enzyme modulator
Q9Y6N9 BXGT022337 Harmonin 10083 reviewed Cellular structure
Q92785 BXGT023424 Zinc finger protein ubi-d4 5977 reviewed Enzyme
P00395 BXGT023596 Cytochrome c oxidase subunit 1 4512 reviewed Enzyme
Q59FF6 BXGT023693 Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant 2074 unreviewed
Q9H9S5 BXGT024623 Fukutin-related protein 79147 reviewed
P51608 BXGT025073 Methyl-CpG-binding protein 2 4204 reviewed Epigenetic regulator
P28715 BXGT025675 DNA repair protein complementing XP-G cells 2073 reviewed
Q9UQE7 BXGT025899 Structural maintenance of chromosomes protein 3 9126 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
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