Showing entry for Familial aplasia of the vermis



                               
General Disease Information
BXGD IdBXGD008684
Disease NameFamilial aplasia of the vermis
Disease CUI IdC0431399
MeSH Codes C16   C13   C11   C12  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id HP:0000707  
Human Phenotype Ontology TermAbnormality of the nervous system
Disease Ontology Id DOID:630   DOID:7   DOID:225  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; syndrome
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
O75663 BXGT005143 TIP41-like protein 261726 reviewed
P15144 BXGT008087 Aminopeptidase N 290 reviewed Enzyme
P15153 BXGT008090 Ras-related C3 botulinum toxin substrate 2 5880 reviewed Enzyme modulator
P18848 BXGT008432 Cyclic AMP-dependent transcription factor ATF-4 468 reviewed
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P24385 BXGT008965 G1/S-specific cyclin-D1 595 reviewed Enzyme modulator
P32019 BXGT009595 Type II inositol 1,4,5-trisphosphate 5-phosphatase 3633 reviewed Enzyme
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q14643 BXGT013493 Inositol 1,4,5-trisphosphate receptor type 1 3708 reviewed Ion channel
Q2M1P5 BXGT014129 Kinesin-like protein KIF7 374654 reviewed
Q92993 BXGT019403 Histone acetyltransferase KAT5 10524 reviewed
Q99835 BXGT019969 Smoothened homolog 6608 reviewed G-protein coupled receptor
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
Q9UMX1 BXGT021778 Suppressor of fused homolog 51684 reviewed
Q96KN7 BXGT022801 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 57096 reviewed Enzyme modulator
Q9UKL0 BXGT024575 REST corepressor 1 23186 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