Showing entry for Niemann-Pick Disease, Type C


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004338
Disease NameNiemann-Pick Disease, Type C
Disease CUI IdC0220756
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
O00182 BXGT003889 Galectin-9 3965 reviewed Signaling
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
O15350 BXGT004154 Tumor protein p73 7161 reviewed Transcription factor
O43612 BXGT004605 Orexin 3060 reviewed
O60674 BXGT004892 Tyrosine-protein kinase JAK2 3717 reviewed Kinase
O75385 BXGT005121 Serine/threonine-protein kinase ULK1 8408 reviewed Kinase
O95477 BXGT005383 Phospholipid-transporting ATPase ABCA1 19 reviewed Transporter
O95786 BXGT005396 Probable ATP-dependent RNA helicase DDX58 23586 reviewed
P00450 BXGT005544 Ceruloplasmin 1356 reviewed Enzyme
P00480 BXGT005551 Ornithine carbamoyltransferase, mitochondrial 5009 reviewed
P01100 BXGT005727 Proto-oncogene c-Fos 2353 reviewed Transcription factor
P01106 BXGT005730 Myc proto-oncogene protein 4609 reviewed Transcription factor
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P01579 BXGT005770 Interferon gamma 3458 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02768 BXGT005955 Serum albumin 213 reviewed Transporter
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P04083 BXGT006147 Annexin A1 301 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P04792 BXGT006264 Heat shock protein beta-1 3315 reviewed
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P05090 BXGT006311 Apolipoprotein D 347 reviewed
P05412 BXGT006354 Transcription factor AP-1 3725 reviewed Transcription factor
P06730 BXGT006487 Eukaryotic translation initiation factor 4E 1977 reviewed Nucleic acid binding
P06734 BXGT006491 Low affinity immunoglobulin epsilon Fc receptor 2208 reviewed Receptor
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P08133 BXGT006727 Annexin A6 309 reviewed
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P08670 BXGT006810 Vimentin 7431 reviewed
P09038 BXGT006851 Fibroblast growth factor 2 2247 reviewed Signaling
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10636 BXGT007596 Microtubule-associated protein tau 4137 reviewed
P12643 BXGT007830 Bone morphogenetic protein 2 650 reviewed Signaling
P12830 BXGT007852 Cadherin-1 999 reviewed
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P13501 BXGT007917 C-C motif chemokine 5 6352 reviewed Signaling
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16410 BXGT008224 Cytotoxic T-lymphocyte protein 4 1493 reviewed
P16455 BXGT008229 Methylated-DNA--protein-cysteine methyltransferase 4255 reviewed
P17405 BXGT008304 Sphingomyelin phosphodiesterase 6609 reviewed Enzyme
P18074 BXGT008374 General transcription and DNA repair factor IIH helicase subunit XPD 2068 reviewed Enzyme
P18146 BXGT008384 Early growth response protein 1 1958 reviewed Nucleic acid binding
P19971 BXGT008537 Thymidine phosphorylase 1890 reviewed Enzyme
P20472 BXGT008578 Parvalbumin alpha 5816 reviewed Calcium-binding protein
P21579 BXGT008665 Synaptotagmin-1 6857 reviewed Transporter
P25942 BXGT009079 Tumor necrosis factor receptor superfamily member 5 958 reviewed
P27797 BXGT009206 Calreticulin 811 reviewed Calcium-binding protein
P29317 BXGT009331 Ephrin type-A receptor 2 1969 reviewed Kinase
P29350 BXGT009335 Tyrosine-protein phosphatase non-receptor type 6 5777 reviewed
P30988 BXGT009491 Calcitonin receptor 799 reviewed G-protein coupled receptor
P31941 BXGT009585 DNA dC->dU-editing enzyme APOBEC-3A 200315 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35613 BXGT009856 Basigin 682 reviewed
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P38571 BXGT010054 Lysosomal acid lipase/cholesteryl ester hydrolase 3988 reviewed Enzyme
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P48029 BXGT010606 Sodium- and chloride-dependent creatine transporter 1 6535 reviewed Transporter
P49327 BXGT010694 Fatty acid synthase 2194 reviewed Enzyme
P50416 BXGT010797 Carnitine O-palmitoyltransferase 1, liver isoform 1374 reviewed Enzyme
P51151 BXGT010837 Ras-related protein Rab-9A 9367 reviewed
P53355 BXGT010985 Death-associated protein kinase 1 1612 reviewed Kinase
P55774 BXGT011124 C-C motif chemokine 18 6362 reviewed Signaling
P56817 BXGT011200 Beta-secretase 1 23621 reviewed Enzyme
P61024 BXGT011350 Cyclin-dependent kinases regulatory subunit 1 1163 reviewed Enzyme modulator
P61088 BXGT011358 Ubiquitin-conjugating enzyme E2 N 7334 reviewed
P61769 BXGT011383 Beta-2-microglobulin 567 reviewed Immune response
P62330 BXGT011423 ADP-ribosylation factor 6 382 reviewed
Q00535 BXGT012534 Cyclin-dependent-like kinase 5 1020 reviewed Kinase
Q04206 BXGT012754 Transcription factor p65 5970 reviewed Transcription factor
Q05397 BXGT012815 Focal adhesion kinase 1 5747 reviewed Kinase
Q08050 BXGT012958 Forkhead box protein M1 2305 reviewed
Q13148 BXGT013318 TAR DNA-binding protein 43 23435 reviewed
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q13231 BXGT013329 Chitotriosidase-1 1118 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q14457 BXGT013472 Beclin-1 8678 reviewed Enzyme modulator
Q14790 BXGT013505 Caspase-8 841 reviewed Enzyme
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15078 BXGT013534 Cyclin-dependent kinase 5 activator 1 8851 reviewed Enzyme modulator
Q15485 BXGT013574 Ficolin-2 2220 reviewed Signaling
Q16739 BXGT013663 Ceramide glucosyltransferase 7357 reviewed Enzyme
Q53EL6 BXGT015008 Programmed cell death protein 4 27250 reviewed Nucleic acid binding
Q8TDQ0 BXGT018810 Hepatitis A virus cellular receptor 2 84868 reviewed
Q92769 BXGT019370 Histone deacetylase 2 3066 reviewed Epigenetic regulator
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q99500 BXGT019927 Sphingosine 1-phosphate receptor 3 1903 reviewed G-protein coupled receptor
Q9BZS1 BXGT020203 Forkhead box protein P3 50943 reviewed
Q9H4A3 BXGT020473 Serine/threonine-protein kinase WNK1 65125 reviewed Kinase
Q9HCG7 BXGT020533 Non-lysosomal glucosylceramidase 57704 reviewed
Q9NR12 BXGT021174 PDZ and LIM domain protein 7 9260 reviewed Cellular structure
Q9NYA1 BXGT021254 Sphingosine kinase 1 8877 reviewed Kinase
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UBE8 BXGT021652 Serine/threonine-protein kinase NLK 51701 reviewed Kinase
Q9UBN7 BXGT021658 Histone deacetylase 6 10013 reviewed Epigenetic regulator
Q9Y5W5 BXGT022303 Wnt inhibitory factor 1 11197 reviewed Calcium-binding protein
P04439 BXGT022649 HLA class I histocompatibility antigen, A-3 alpha chain 3105 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q16552 BXGT023419 Interleukin-17A 3605 reviewed
P17535 BXGT023437 Transcription factor jun-D 3727 reviewed Transcription factor
P53539 BXGT023438 Protein fosB 2354 reviewed Transcription factor
P35670 BXGT023695 Copper-transporting ATPase 2 540 reviewed Transporter
Q9BQQ3 BXGT024065 Golgi reassembly-stacking protein 1 64689 reviewed
Q13635 BXGT024910 Protein patched homolog 1 5727 reviewed
Q96MS0 BXGT025241 Roundabout homolog 3 64221 reviewed Receptor
Q7Z3B1 BXGT025707 Neuronal growth regulator 1 257194 reviewed
P61916 BXGT025881 NPC intracellular cholesterol transporter 2 10577 reviewed
Q5BJF2 BXGT026107 Sigma intracellular receptor 2 27346 reviewed Enzyme
Q05209 BXGT026141 Tyrosine-protein phosphatase non-receptor type 12 5782 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