ptosis |
Disease ID | 462 |
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Disease | ptosis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0038379 | strabismus | 5 C0002418 | amblyopia | 4 C0152189 | stimulus deprivation amblyopia | 1 C0003076 | aniridia | 1 |
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 |
rs113994095 | 18546343 | 5428 | POLG | umls:C0005745 | BeFree | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 0.000271442 | 2008 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994095 | 18546343 | 5428 | POLG | umls:C0033377 | BeFree | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 0.000271442 | 2008 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994097 | 18546343 | 5428 | POLG | umls:C0005745 | BeFree | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 0.000271442 | 2008 | POLG | 15 | 89323426 | C | G |
rs113994097 | 18546343 | 5428 | POLG | umls:C0033377 | BeFree | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 0.000271442 | 2008 | POLG | 15 | 89323426 | C | 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:16) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0005745 | amitriptyline | D000639 | 50-48-6 | blepharoptosis | MESH:D001763 | therapeutic | 2530142 | ||
C0005745 | aripiprazole | D000068180 | - | blepharoptosis | MESH:D001763 | marker/mechanism | 15358981 | ||
C0005745 | felbamate | C047360 | 25451-15-4 | blepharoptosis | MESH:D001763 | marker/mechanism | 9848129 | ||
C0005745 | haloperidol | D006220 | 52-86-8 | blepharoptosis | MESH:D001763 | marker/mechanism | 1973109 | ||
C0005745 | imipramine | D007099 | 50-49-7 | blepharoptosis | MESH:D001763 | therapeutic | 2530142 | ||
C0005745 | lidocaine | D008012 | 137-58-6 | blepharoptosis | MESH:D001763 | marker/mechanism | 3395920 | ||
C0005745 | levonorgestrel | D016912 | 797-63-7 | blepharoptosis | MESH:D001763 | marker/mechanism | 7491061 | ||
C0005745 | olanzapine | C076029 | 132539-06-1 | blepharoptosis | MESH:D001763 | marker/mechanism | 15358981 | ||
C0005745 | peginterferon alfa-2b | C417083 | - | blepharoptosis | MESH:D001763 | marker/mechanism | 16020909 | ||
C0005745 | phenytoin | D010672 | 57-41-0 | blepharoptosis | MESH:D001763 | marker/mechanism | 6035961 | ||
C0005745 | prazosin | D011224 | 19216-56-9 | blepharoptosis | MESH:D001763 | marker/mechanism | 1819906 | ||
C0005745 | pyridoxine | D011736 | - | blepharoptosis | MESH:D001763 | therapeutic | 15838404 | ||
C0005745 | reserpine | D012110 | 50-55-5 | blepharoptosis | MESH:D001763 | marker/mechanism | 10030729 | ||
C0005745 | ribavirin | D012254 | 36791-04-5 | blepharoptosis | MESH:D001763 | marker/mechanism | 16020909 | ||
C0005745 | tetrabenazine | D013747 | 58-46-8 | blepharoptosis | MESH:D001763 | marker/mechanism | 11744305 | ||
C0005745 | vincristine | D014750 | - | blepharoptosis | MESH:D001763 | marker/mechanism | 15838404 |
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.) |