PedAM
Pediatric Disease Annotations & Medicines
| colon adenocarcinoma | ||||
| Disease ID | 1745 |
|---|---|
| Disease | colon adenocarcinoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0002664 | Neoplasia | 12 HP:0001138 | Damaged optic nerve | 1 HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs | 1 HP:0002749 | Osteomalacia | 1 HP:0100723 | Gastrointestinal stroma tumor | 1 HP:0001067 | Neurofibromas | 1 HP:0000952 | Yellow skin | 1 HP:0030153 | Cholangiocarcinoma | 1 HP:0003003 | Colon cancer | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0030731 | Carcinoma | 1 |
| Disease ID | 1745 |
|---|---|
| Disease | colon adenocarcinoma |
| 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) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 19881948 | 673 | BRAF | umls:C0338106 | BeFree | Caco-2 human colon adenocarcinoma cells were stably transfected with BRAF(V600E) (Caco-BR cells) or KRAS(G12V) (Caco-K cells) oncogenes. | 0.000814326 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25602793 | 673 | BRAF | umls:C0338106 | BeFree | We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome. | 0.000814326 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25602793 | 4292 | MLH1 | umls:C0338106 | BeFree | We defined sporadic MSI-high carcinomas as those with loss of MLH1 and PMS2 immunostaining and BRAF V600E mutations that occurred in patients 50 years of age or older without a family history of colonic adenocarcinoma or Lynch syndrome. | 0.000814326 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121908688 | NA | 8438 | RAD54L | umls:C0338106 | CLINVAR | NA | 0.12 | NA | RAD54L | 1 | 46250097 | C | A |
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:0) | |
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| (Waiting for update.) | |
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.) | |