PedAM
Pediatric Disease Annotations & Medicines
| rectal neoplasm | ||||
| Disease ID | 1073 |
|---|---|
| Disease | rectal neoplasm |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0012126 | Gastric cancer | 5 HP:0005231 | Chronic gastritis | 1 HP:0100279 | Ulcerative colitis | 1 HP:0002666 | Pheochromocytoma | 1 HP:0005263 | Gastritis | 1 HP:0000819 | Diabetes mellitus | 1 HP:0012450 | Chronic constipation | 1 |
| Disease ID | 1073 |
|---|---|
| Disease | rectal neoplasm |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:38) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10889675 | 22154103 | 149233 | IL23R | umls:C0034885 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.000271442 | 2012 | IL23R | 1 | 67256533 | C | A |
| rs10889675 | 22154103 | 149233 | IL23R | umls:C1527408 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.000271442 | 2012 | IL23R | 1 | 67256533 | C | A |
| rs10889675 | 22154103 | 7157 | TP53 | umls:C1527408 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.003257302 | 2012 | IL23R | 1 | 67256533 | C | A |
| rs10889675 | 22154103 | 7157 | TP53 | umls:C0034885 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.025275227 | 2012 | IL23R | 1 | 67256533 | C | A |
| rs113488022 | 19358278 | 3845 | KRAS | umls:C1527408 | BeFree | Our investigation evaluates associations between active and passive smoking and TP53, KRAS2, and BRAF V600E mutations, microsatellite instability (MSI), and CpG Island Methylator Phenotype (CIMP) in rectal tumors. | 0.001628651 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19358278 | 3845 | KRAS | umls:C0034885 | BeFree | Our investigation evaluates associations between active and passive smoking and TP53, KRAS2, and BRAF V600E mutations, microsatellite instability (MSI), and CpG Island Methylator Phenotype (CIMP) in rectal tumors. | 0.025298971 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1205 | 20949557 | 1401 | CRP | umls:C0034885 | BeFree | The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5, 95%CI 1.2-5.3); conversely, the rs1417938 A allele was associated with a reduced risk of CIMP+ rectal tumors (OR 0.5, 95%CI 0.3-0.9). | 0.000271442 | 2011 | CRP | 1 | 159712443 | C | T |
| rs1205 | 20949557 | 1401 | CRP | umls:C1527408 | BeFree | The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5, 95%CI 1.2-5.3); conversely, the rs1417938 A allele was associated with a reduced risk of CIMP+ rectal tumors (OR 0.5, 95%CI 0.3-0.9). | 0.000271442 | 2011 | CRP | 1 | 159712443 | C | T |
| rs1417938 | 20949557 | 1401 | CRP | umls:C1527408 | BeFree | The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5, 95%CI 1.2-5.3); conversely, the rs1417938 A allele was associated with a reduced risk of CIMP+ rectal tumors (OR 0.5, 95%CI 0.3-0.9). | 0.000271442 | 2011 | CRP | 1 | 159714396 | T | A |
| rs1417938 | 20949557 | 1401 | CRP | umls:C0034885 | BeFree | The CRP rs1205 AA genotype also was associated with an increased risk of CIMP+ rectal tumors (OR 2.5, 95%CI 1.2-5.3); conversely, the rs1417938 A allele was associated with a reduced risk of CIMP+ rectal tumors (OR 0.5, 95%CI 0.3-0.9). | 0.000271442 | 2011 | CRP | 1 | 159714396 | T | A |
| rs2296189 | 23794399 | 7157 | TP53 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.003257302 | 2013 | FLT1;LOC105370134 | 13 | 28319505 | A | C,G |
| rs2296189 | 23794399 | 2321 | FLT1 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1;LOC105370134 | 13 | 28319505 | A | C,G |
| rs2296189 | 23794399 | 7157 | TP53 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.025275227 | 2013 | FLT1;LOC105370134 | 13 | 28319505 | A | C,G |
| rs2296189 | 23794399 | 2321 | FLT1 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1;LOC105370134 | 13 | 28319505 | A | C,G |
| rs412396 | 20622004 | 7157 | TP53 | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.003257302 | 2010 | NA | 20 | 43657322 | C | G |
| rs412396 | 20622004 | 3845 | KRAS | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025298971 | 2010 | NA | 20 | 43657322 | C | G |
| rs412396 | 20622004 | 3845 | KRAS | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.001628651 | 2010 | NA | 20 | 43657322 | C | G |
| rs412396 | 20622004 | 7157 | TP53 | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025275227 | 2010 | NA | 20 | 43657322 | C | G |
| rs4725431 | 20622004 | 3845 | KRAS | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025298971 | 2010 | PRKAG2 | 7 | 151776093 | T | C |
| rs4725431 | 20622004 | 3845 | KRAS | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.001628651 | 2010 | PRKAG2 | 7 | 151776093 | T | C |
| rs4725431 | 20622004 | 7157 | TP53 | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025275227 | 2010 | PRKAG2 | 7 | 151776093 | T | C |
| rs4725431 | 20622004 | 7157 | TP53 | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.003257302 | 2010 | PRKAG2 | 7 | 151776093 | T | C |
| rs600640 | 23794399 | 2321 | FLT1 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1 | 13 | 28489832 | G | A |
| rs600640 | 23794399 | 7157 | TP53 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.025275227 | 2013 | FLT1 | 13 | 28489832 | G | A |
| rs600640 | 23794399 | 7157 | TP53 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.003257302 | 2013 | FLT1 | 13 | 28489832 | G | A |
| rs600640 | 23794399 | 2321 | FLT1 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1 | 13 | 28489832 | G | A |
| rs6964824 | 20622004 | 3845 | KRAS | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.001628651 | 2010 | PRKAG2 | 7 | 151654146 | T | C |
| rs6964824 | 20622004 | 3845 | KRAS | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025298971 | 2010 | PRKAG2 | 7 | 151654146 | T | C |
| rs6964824 | 20622004 | 7157 | TP53 | umls:C1527408 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.003257302 | 2010 | PRKAG2 | 7 | 151654146 | T | C |
| rs6964824 | 20622004 | 7157 | TP53 | umls:C0034885 | BeFree | FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. | 0.025275227 | 2010 | PRKAG2 | 7 | 151654146 | T | C |
| rs7542081 | 22154103 | 7157 | TP53 | umls:C0034885 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.025275227 | 2012 | IL23R | 1 | 67237570 | C | A |
| rs7542081 | 22154103 | 149233 | IL23R | umls:C1527408 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.000271442 | 2012 | IL23R | 1 | 67237570 | C | A |
| rs7542081 | 22154103 | 7157 | TP53 | umls:C1527408 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.003257302 | 2012 | IL23R | 1 | 67237570 | C | A |
| rs7542081 | 22154103 | 149233 | IL23R | umls:C0034885 | BeFree | In this comprehensive study of genetic variability in IL23R across the spectrum of colorectal carcinogenesis, as well as within colon and rectal tumor molecular subtypes, we observed associations between SNPs in IL23R and risk of rectal cancer: the 88413 C>A (rs10889675) and 69450 C>A (rs7542081) polymorphisms were associated with decreased rectal cancer risk overall (p-trend=0.04 and 0.05 respectively), and specifically with rectal tumors bearing a TP53 mutation (88413 CA/AA vs. CC OR: 0.66; 95% CI: 0.46-94; 69450 CA/AA vs. CC OR: 0.60; 95% CI: 0.37-0.98). | 0.000271442 | 2012 | IL23R | 1 | 67237570 | C | A |
| rs7983774 | 23794399 | 7157 | TP53 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.025275227 | 2013 | FLT1 | 13 | 28390188 | G | A,T |
| rs7983774 | 23794399 | 2321 | FLT1 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1 | 13 | 28390188 | G | A,T |
| rs7983774 | 23794399 | 2321 | FLT1 | umls:C0034885 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.000271442 | 2013 | FLT1 | 13 | 28390188 | G | A,T |
| rs7983774 | 23794399 | 7157 | TP53 | umls:C1527408 | BeFree | FLT1 rs2296189 and rs600640 were associated with CIMP+ rectal tumors and FLT1 rs7983774 was associated with TP53-mutated rectal tumors. | 0.003257302 | 2013 | FLT1 | 13 | 28390188 | G | A,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:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0034885 | epirubicin | D015251 | 56420-45-2 | rectal neoplasms | MESH:D012004 | therapeutic | 3513075 | ||
| C0034885 | fluorouracil | D005472 | 51-21-8 | rectal neoplasms | MESH:D012004 | therapeutic | 10859091 | ||
| C0034885 | mitomycin | D016685 | 1950/7/7 | rectal neoplasms | MESH:D012004 | therapeutic | 2112726 | ||
| C0034885 | oxaliplatin | C030110 | - | rectal neoplasms | MESH:D012004 | therapeutic | 18607849 | ||
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.) | |