Showing entry for Niemann-Pick Disease, Type C1


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD018552
Disease NameNiemann-Pick Disease, Type C1
Disease CUI IdC3179455
MeSH Codes C16   C18   C10   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
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
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
P01236 BXGT005744 Prolactin 5617 reviewed Signaling
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P05413 BXGT006355 Fatty acid-binding protein, heart 2170 reviewed
P08670 BXGT006810 Vimentin 7431 reviewed
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P20273 BXGT008557 B-cell receptor CD22 933 reviewed
P20813 BXGT008603 Cytochrome P450 2B6 1555 reviewed
P23560 BXGT008883 Brain-derived neurotrophic factor 627 reviewed Signaling
P35052 BXGT009788 Glypican-1 2817 reviewed
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P38571 BXGT010054 Lysosomal acid lipase/cholesteryl ester hydrolase 3988 reviewed Enzyme
P41161 BXGT010229 ETS translocation variant 5 2119 reviewed Transcription factor
P42262 BXGT010294 Glutamate receptor 2 2891 reviewed Ion channel
P60880 BXGT011335 Synaptosomal-associated protein 25 6616 reviewed Transporter
P98170 BXGT012231 E3 ubiquitin-protein ligase XIAP 331 reviewed Enzyme modulator
Q13255 BXGT013332 Metabotropic glutamate receptor 1 2911 reviewed G-protein coupled receptor
Q13546 BXGT013372 Receptor-interacting serine/threonine-protein kinase 1 8737 reviewed Kinase
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q5JPH6 BXGT015456 Probable glutamate--tRNA ligase, mitochondrial 124454 reviewed Enzyme
Q9HC29 BXGT020526 Nucleotide-binding oligomerization domain-containing protein 2 64127 reviewed Enzyme
Q9NRF2 BXGT021185 SH2B adapter protein 1 25970 reviewed
Q9UKU7 BXGT021749 Isobutyryl-CoA dehydrogenase, mitochondrial 27034 reviewed Enzyme
Q9Y572 BXGT022289 Receptor-interacting serine/threonine-protein kinase 3 11035 reviewed Kinase
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
Q7Z3B1 BXGT025707 Neuronal growth regulator 1 257194 reviewed
P61916 BXGT025881 NPC intracellular cholesterol transporter 2 10577 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