keratitis |
Disease ID | 319 |
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Disease | keratitis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs28931594 | 23924173 | 2706 | GJB2 | umls:C0022568 | BeFree | Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. | 0.124885954 | 2013 | GJB2 | 13 | 20189434 | C | T,A |
rs72561723 | 18024254 | 2706 | GJB2 | umls:C0022568 | BeFree | A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. | 0.124885954 | 2008 | GJB2 | 13 | 20189448 | C | T |
rs72561723 | 23756814 | 2706 | GJB2 | umls:C0022568 | BeFree | Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. | 0.124885954 | 2013 | GJB2 | 13 | 20189448 | C | T |
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:5) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0022568 | chloroquine | D002738 | 1954/5/7 | keratitis | MESH:D007634 | marker/mechanism | 5297866 | ||
C0022568 | fluorouracil | D005472 | 51-21-8 | keratitis | MESH:D007634 | marker/mechanism | 12918558 | ||
C0022568 | indomethacin | D007213 | 53-86-1 | keratitis | MESH:D007634 | marker/mechanism | 24598350 | ||
C0022568 | liposomal amphotericin b | C068538 | - | keratitis | MESH:D007634 | therapeutic | 19320385 | ||
C0022568 | timolol | D013999 | 26839-75-8 | keratitis | MESH:D007634 | marker/mechanism | 6125102 |
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.) |