demyelinating disease |
Disease ID | 1260 |
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Disease | demyelinating disease |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002180 | Neurodegeneration | 7 HP:0100653 | Optic neuritis | 5 HP:0002344 | Progressive neurologic deterioration | 2 HP:0002664 | Neoplasia | 2 HP:0002383 | Encephalitis | 2 HP:0002633 | Vasculitis | 1 HP:0012486 | Inflammation of spinal cord | 1 HP:0100543 | Cognitive deficits | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 HP:0001251 | Ataxia | 1 HP:0000554 | Uveitis | 1 HP:0001297 | Cerebral vascular events | 1 HP:0011096 | Demyelination | 1 HP:0000164 | Abnormality of the teeth | 1 HP:0012531 | Pain | 1 HP:0001260 | Dysarthric speech | 1 HP:0040078 | Axonal degeneration | 1 |
Disease ID | 1260 |
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Disease | demyelinating disease |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs386596107 | 22218650 | 6648 | SOD2 | umls:C0011303 | BeFree | We tested an SOD2 variant C47T (Ala16Val) associated with reduced enzymatic activity as a potential modifier gene of cerebral demyelinating disease by comparing 117 cerebral XALD cases with 105 non-cerebral XALD cases. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
rs397514767 | 25818314 | 966 | CD59 | umls:C0011303 | BeFree | The Cys89Tyr mutation in CD59 was clinically manifested in infancy, and associated with chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP). | 0.000271442 | 2015 | CD59 | 11 | 33710247 | C | T |
rs422951 | 23549433 | 4855 | NOTCH4 | umls:C0011303 | BeFree | The G allele of NOTCH4 rs422951 is protective against demyelinating disease in Japanese. | 0.000271442 | 2014 | NOTCH4 | 6 | 32220606 | T | C |
rs4880 | 22218650 | 6648 | SOD2 | umls:C0011303 | BeFree | We tested an SOD2 variant C47T (Ala16Val) associated with reduced enzymatic activity as a potential modifier gene of cerebral demyelinating disease by comparing 117 cerebral XALD cases with 105 non-cerebral XALD cases. | 0.000271442 | 2012 | SOD2 | 6 | 159692840 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:29) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0011303 | acetylcysteine | D000111 | 616-91-1 | demyelinating diseases | MESH:D003711 | therapeutic | 19840221 | ||
C0011303 | s-adenosylmethionine | D012436 | 29908-03-0 | demyelinating diseases | MESH:D003711 | therapeutic | 7527320 | ||
C0011303 | betaine | D001622 | 107-43-7 | demyelinating diseases | MESH:D003711 | therapeutic | 7527320 | ||
C0011303 | cladribine | D017338 | 4291-63-8 | demyelinating diseases | MESH:D003711 | marker/mechanism | 7949097 | ||
C0011303 | chloroquine | D002738 | 1954/5/7 | demyelinating diseases | MESH:D003711 | marker/mechanism | 2831692 | ||
C0011303 | diclofenac | D004008 | 15307-86-5 | demyelinating diseases | MESH:D003711 | marker/mechanism | 18678241 | ||
C0011303 | zalcitabine | D016047 | 7481-89-2 | demyelinating diseases | MESH:D003711 | marker/mechanism | 11706061 | ||
C0011303 | doxycycline | D004318 | 564-25-0 | demyelinating diseases | MESH:D003711 | marker/mechanism | 8902563 | ||
C0011303 | fluorouracil | D005472 | 51-21-8 | demyelinating diseases | MESH:D003711 | marker/mechanism | 10458263 | ||
C0011303 | leucovorin | D002955 | 1958/5/9 | demyelinating diseases | MESH:D003711 | marker/mechanism | 8032957 | ||
C0011303 | melphalan | D008558 | 148-82-3 | demyelinating diseases | MESH:D003711 | marker/mechanism | 8043096 | ||
C0011303 | methotrexate | D008727 | 1959/5/2 | demyelinating diseases | MESH:D003711 | marker/mechanism | 10090607 | ||
C0011303 | mitomycin | D016685 | 1950/7/7 | demyelinating diseases | MESH:D003711 | marker/mechanism | 2129960 | ||
C0011303 | mitoxantrone | D008942 | 65271-80-9 | demyelinating diseases | MESH:D003711 | marker/mechanism | 2564552 | ||
C0011303 | paclitaxel | D017239 | - | demyelinating diseases | MESH:D003711 | marker/mechanism | 9149085 | ||
C0011303 | phenytoin | D010672 | 57-41-0 | demyelinating diseases | MESH:D003711 | marker/mechanism | 3008637 | ||
C0011303 | pilocarpine | D010862 | 92-13-7 | demyelinating diseases | MESH:D003711 | marker/mechanism | 15193289 | ||
C0011303 | progesterone | D011374 | 57-83-0 | demyelinating diseases | MESH:D003711 | therapeutic | 19031445 | ||
C0011303 | pyrimethamine | D011739 | 58-14-0 | demyelinating diseases | MESH:D003711 | marker/mechanism | 267250 | ||
C0011303 | ropivacaine | C037663 | 84057-95-4 | demyelinating diseases | MESH:D003711 | marker/mechanism | 20014599 | ||
C0011303 | sirolimus | D020123 | 53123-88-9 | demyelinating diseases | MESH:D003711 | marker/mechanism | 18589148 | ||
C0011303 | sirolimus | D020123 | 53123-88-9 | demyelinating diseases | MESH:D003711 | therapeutic | 20739560 | ||
C0011303 | streptozocin | D013311 | 18883-66-4 | demyelinating diseases | MESH:D003711 | marker/mechanism | 19840221 | ||
C0011303 | sulindac | D013467 | 38194-50-2 | demyelinating diseases | MESH:D003711 | marker/mechanism | 6291491 | ||
C0011303 | tacrolimus | D016559 | 109581-93-3 | demyelinating diseases | MESH:D003711 | marker/mechanism | 11563175 | ||
C0011303 | vigabatrin | D020888 | 60643-86-9 | demyelinating diseases | MESH:D003711 | marker/mechanism | 19773459 | ||
C0011303 | vincristine | D014750 | - | demyelinating diseases | MESH:D003711 | marker/mechanism | 11587867 | ||
C0011303 | vindesine | D014751 | 53643-48-4 | demyelinating diseases | MESH:D003711 | marker/mechanism | 17018103 | ||
C0011303 | thiamine | D013831 | 59-43-8 | demyelinating diseases | MESH:D003711 | marker/mechanism | 9224999 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |