keratitis |
Disease ID | 722 |
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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.) |
Text Mining Genotype(Total 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.) |
Disease ID | 722 |
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Disease | keratitis |
Case | (Waiting for update.) |