Showing entry for MOHR-TRANEBJAERG SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010793
Disease NameMOHR-TRANEBJAERG SYNDROME
Disease CUI IdC0796074
MeSH Codes C23   C16   C11   C10   F03   C09   F01  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O75751 BXGT005150 Solute carrier family 22 member 3 6581 reviewed Transporter
O95069 BXGT005348 Potassium channel subfamily K member 2 3776 reviewed Ion channel
O96017 BXGT005415 Serine/threonine-protein kinase Chk2 11200 reviewed Kinase
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02724 BXGT005934 Glycophorin-A 2993 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P02818 BXGT005969 Osteocalcin 632 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P08183 BXGT006741 ATP-dependent translocase ABCB1 5243 reviewed Transporter
P09874 BXGT006934 Poly [ADP-ribose] polymerase 1 142 reviewed
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15121 BXGT008083 Aldo-keto reductase family 1 member B1 231 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P22897 BXGT008816 Macrophage mannose receptor 1 4360 reviewed
P29475 BXGT009353 Nitric oxide synthase, brain 4842 reviewed
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P30793 BXGT009466 GTP cyclohydrolase 1 2643 reviewed Enzyme
P31749 BXGT009574 RAC-alpha serine/threonine-protein kinase 207 reviewed Kinase
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P41594 BXGT010266 Metabotropic glutamate receptor 5 2915 reviewed G-protein coupled receptor
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P43246 BXGT010371 DNA mismatch repair protein Msh2 4436 reviewed Nucleic acid binding
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49789 BXGT010742 Bis(5'-adenosyl)-triphosphatase 2272 reviewed
P50052 BXGT010768 Type-2 angiotensin II receptor 186 reviewed G-protein coupled receptor
P52701 BXGT010943 DNA mismatch repair protein Msh6 2956 reviewed Nucleic acid binding
P54278 BXGT011038 Mismatch repair endonuclease PMS2 5395 reviewed Nucleic acid binding
P60174 BXGT011294 Triosephosphate isomerase 7167 reviewed Enzyme
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q06187 BXGT012860 Tyrosine-protein kinase BTK 695 reviewed Kinase
Q08881 BXGT013012 Tyrosine-protein kinase ITK/TSK 3702 reviewed Kinase
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q14790 BXGT013505 Caspase-8 841 reviewed Enzyme
Q15020 BXGT013522 Squamous cell carcinoma antigen recognized by T-cells 3 9733 reviewed Nucleic acid binding
Q15208 BXGT013550 Serine/threonine-protein kinase 38 11329 reviewed Kinase
Q96D42 BXGT019636 Hepatitis A virus cellular receptor 1 26762 reviewed
Q9NZQ7 BXGT021281 Programmed cell death 1 ligand 1 29126 reviewed Receptor
Q9UIF7 BXGT021717 Adenine DNA glycosylase 4595 reviewed Enzyme
Q9UNQ0 BXGT021792 ATP-binding cassette sub-family G member 2 9429 reviewed Transporter
Q9Y572 BXGT022289 Receptor-interacting serine/threonine-protein kinase 3 11035 reviewed Kinase
Q9UNS1 BXGT022882 Protein timeless homolog 8914 reviewed
Q9GZQ8 BXGT023414 Microtubule-associated proteins 1A/1B light chain 3B 81631 reviewed Cellular structure
Q96RD7 BXGT025890 Pannexin-1 24145 reviewed Ion channel
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