eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| colorectal adenoma | ||||
| Disease ID | 1019 |
|---|---|
| Disease | colorectal adenoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0030731 | Carcinoma | 6 HP:0001513 | Obesity | 4 HP:0002664 | Neoplasia | 2 HP:0000855 | Insulin resistance | 2 HP:0000819 | Diabetes mellitus | 2 HP:0001717 | Coronary artery calcification | 1 HP:0002885 | Medulloblastoma | 1 HP:0001397 | Hepatic steatosis | 1 HP:0003002 | Breast carcinoma | 1 HP:0005231 | Chronic gastritis | 1 HP:0012115 | Liver inflammation | 1 |
| Disease ID | 1019 |
|---|---|
| Disease | colorectal adenoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:43) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1051740 | 21598178 | 2052 | EPHX1 | umls:C1302401 | BeFree | We determined the association between charred meat consumption, cigarette smoking, microsomal epoxide hydrolase (mEH) polymorphisms (rs1051740 and rs2234922), and colorectal adenomas and hyperplastic polyps (HPs) and explored gene-environment interactions. | 0.001357209 | 2011 | EPHX1 | 1 | 225831932 | T | C |
| rs1052133 | 15946795 | 4968 | OGG1 | umls:C1302401 | BeFree | GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer. | 0.000814326 | 2005 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1126667 | 17236225 | 239 | ALOX12 | umls:C1302401 | BeFree | However, there was an inverse association between the Arg261Gln polymorphism in 12-LOX and colorectal adenoma (OR, 0.63; 95% CI, 0.40-1.00). | 0.000271442 | 2007 | ALOX12;ALOX12-AS1 | 17 | 6999441 | A | G |
| rs1138272 | 22161138 | 2944 | GSTM1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.002714419 | 2012 | GSTP1 | 11 | 67586108 | C | T |
| rs1138272 | 22161138 | 2950 | GSTP1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.000814326 | 2012 | GSTP1 | 11 | 67586108 | C | T |
| rs1138272 | 22161138 | 1728 | NQO1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.001357209 | 2012 | GSTP1 | 11 | 67586108 | C | T |
| rs138367627 | NA | 324 | APC | umls:C1302401 | CLINVAR | NA | 0.139391925 | NA | APC | 5 | 112840326 | T | G |
| rs1695 | 22161138 | 1728 | NQO1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.001357209 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 22161138 | 2944 | GSTM1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.002714419 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 22161138 | 2950 | GSTP1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.000814326 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1799782 | 15767338 | 4233 | MET | umls:C1302401 | BeFree | Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles County, we investigated possible associations between single-nucleotide polymorphisms in the XRCC1 (codons 194 Arg/Trp and codon 399 Arg/Gln) and XRCC3 (codon 241 Thr/Met) genes and colorectal adenoma risk and their possible role as modifiers of the effect of monounsaturated fatty acid, the ratio of omega-6/omega-3 polyunsaturated fatty acids, and antioxidant intake. | 0.000814326 | 2005 | XRCC1 | 19 | 43553422 | G | A |
| rs1800566 | 22161138 | 1728 | NQO1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.001357209 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22161138 | 2950 | GSTP1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.000814326 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22306249 | 1728 | NQO1 | umls:C1302401 | BeFree | Contribution of NAD(P)H quinone oxidoreductase 1 (NQO1) Pro187Ser polymorphism and risk of colorectal adenoma and colorectal cancer in Caucasians: a meta-analysis. | 0.001357209 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1800566 | 22161138 | 2944 | GSTM1 | umls:C1302401 | BeFree | Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future. | 0.002714419 | 2012 | NQO1 | 16 | 69711242 | G | A |
| rs1801155 | 15266213 | 324 | APC | umls:C1302401 | BeFree | The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. | 0.139391925 | 2004 | APC | 5 | 112839514 | T | A |
| rs1801166 | 19701947 | 324 | APC | umls:C1302401 | BeFree | The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. | 0.139391925 | 2009 | APC | 5 | 112839543 | G | C |
| rs1801166 | 19474113 | 324 | APC | umls:C1302401 | BeFree | The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed. | 0.139391925 | 2009 | APC | 5 | 112839543 | G | C |
| rs1801166 | 15266213 | 324 | APC | umls:C1302401 | BeFree | The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. | 0.139391925 | 2004 | APC | 5 | 112839543 | G | C |
| rs1801166 | 11001924 | 324 | APC | umls:C1302401 | BeFree | Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. | 0.139391925 | 2000 | APC | 5 | 112839543 | G | C |
| rs1801166 | 12537656 | 324 | APC | umls:C1302401 | BeFree | Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. | 0.139391925 | 2002 | APC | 5 | 112839543 | G | C |
| rs1801282 | 15564289 | 5468 | PPARG | umls:C1302401 | BeFree | Larger studies are needed to validate these results, which suggest that the PPARgamma Pro12Ala polymorphism may interact with other factors to protect against colorectal adenoma. | 0.000814326 | 2005 | PPARG | 3 | 12351626 | C | G |
| rs1805087 | 14744749 | 4548 | MTR | umls:C1302401 | BeFree | Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk. | 0.003724241 | 2004 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 19124508 | 4548 | MTR | umls:C1302401 | BeFree | Methionine synthase A2756G polymorphism interacts with alcohol and folate intake to influence the risk of colorectal adenoma. | 0.003724241 | 2009 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23593229 | 4548 | MTR | umls:C1302401 | BeFree | Methionine synthase A2756G polymorphism and risk of colorectal adenoma and cancer: evidence based on 27 studies. | 0.003724241 | 2013 | MTR | 1 | 236885200 | A | G |
| rs1805192 | 15564289 | 5468 | PPARG | umls:C1302401 | BeFree | Larger studies are needed to validate these results, which suggest that the PPARgamma Pro12Ala polymorphism may interact with other factors to protect against colorectal adenoma. | 0.000814326 | 2005 | PPARG | 3 | 12379739 | C | G |
| rs188096 | 18644122 | 6555 | SLC10A2 | umls:C1302401 | BeFree | Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S) of the ileal sodium dependent bile acid transporter gene (SLC10A2) has been reported. | 0.002909916 | 2008 | SLC10A2 | 13 | 103052694 | A | C |
| rs1979277 | 17113224 | 6470 | SHMT1 | umls:C1302401 | BeFree | In a case-control study, including 768 cases and 709 controls, we investigated the associations between colorectal adenomas and TS tandem repeat and SHMT1 C1420T polymorphisms, and the interplay with B-vitamins. | 0.000271442 | 2007 | SHMT1 | 17 | 18328782 | G | A |
| rs2234922 | 21598178 | 2052 | EPHX1 | umls:C1302401 | BeFree | We determined the association between charred meat consumption, cigarette smoking, microsomal epoxide hydrolase (mEH) polymorphisms (rs1051740 and rs2234922), and colorectal adenomas and hyperplastic polyps (HPs) and explored gene-environment interactions. | 0.001357209 | 2011 | EPHX1 | 1 | 225838705 | A | G,T |
| rs2287780 | 17389618 | 4552 | MTRR | umls:C1302401 | BeFree | In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). | 0.000271442 | 2007 | MTRR | 5 | 7889191 | C | T |
| rs2303080 | 17389618 | 4552 | MTRR | umls:C1302401 | BeFree | In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). | 0.000271442 | 2007 | MTRR | 5 | 7878311 | T | A |
| rs25487 | 15767338 | 4233 | MET | umls:C1302401 | BeFree | Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles County, we investigated possible associations between single-nucleotide polymorphisms in the XRCC1 (codons 194 Arg/Trp and codon 399 Arg/Gln) and XRCC3 (codon 241 Thr/Met) genes and colorectal adenoma risk and their possible role as modifiers of the effect of monounsaturated fatty acid, the ratio of omega-6/omega-3 polyunsaturated fatty acids, and antioxidant intake. | 0.000814326 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs288326 | 19067193 | 2487 | FRZB | umls:C1302401 | BeFree | To determine if this finding could be replicated, we investigated the association between two FRZB polymorphisms (Arg324Gly and Arg200Trp) and the risk of colorectal adenoma and cancer in nested case-control studies. | 0.000271442 | 2009 | FRZB | 2 | 182838608 | G | A |
| rs371085910 | NA | 324 | APC | umls:C1302401 | CLINVAR | NA | 0.139391925 | NA | APC | 5 | 112775655 | A | G |
| rs3733890 | 17389618 | 635 | BHMT | umls:C1302401 | BeFree | We observed significant evidence for departure from multiplicative interaction for the betaine-homocysteine methyltransferase (BHMT) Arg239Gln with dietary methyl status (based on intake of dietary folate, methionine and alcohol intake) in relation to colorectal adenoma; no such interaction was observed for the other 23 SNPs. | 0.000271442 | 2007 | BHMT | 5 | 79126136 | G | A |
| rs386493716 | 15767338 | 4233 | MET | umls:C1302401 | BeFree | Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles County, we investigated possible associations between single-nucleotide polymorphisms in the XRCC1 (codons 194 Arg/Trp and codon 399 Arg/Gln) and XRCC3 (codon 241 Thr/Met) genes and colorectal adenoma risk and their possible role as modifiers of the effect of monounsaturated fatty acid, the ratio of omega-6/omega-3 polyunsaturated fatty acids, and antioxidant intake. | 0.000814326 | 2005 | NA | NA | NA | NA | NA |
| rs386545546 | 15767338 | 4233 | MET | umls:C1302401 | BeFree | Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles County, we investigated possible associations between single-nucleotide polymorphisms in the XRCC1 (codons 194 Arg/Trp and codon 399 Arg/Gln) and XRCC3 (codon 241 Thr/Met) genes and colorectal adenoma risk and their possible role as modifiers of the effect of monounsaturated fatty acid, the ratio of omega-6/omega-3 polyunsaturated fatty acids, and antioxidant intake. | 0.000814326 | 2005 | NA | NA | NA | NA | NA |
| rs397507444 | 16783607 | 4524 | MTHFR | umls:C1302401 | BeFree | MTHFR (C677T and A1298C) polymorphisms and risk of sporadic distal colorectal adenoma in the UK Flexible Sigmoidoscopy Screening Trial (United Kingdom). | 0.00434307 | 2006 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17089070 | 4524 | MTHFR | umls:C1302401 | BeFree | Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis. | 0.00434307 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17087956 | 4524 | MTHFR | umls:C1302401 | BeFree | We assessed 2 polymorphisms in the MTHFR gene (C677T and A1298C) in relation to colorectal adenoma recurrence and conducted analyses to investigate their joint effects with plasma and dietary markers of folate status. | 0.00434307 | 2006 | MTHFR | 1 | 11794407 | T | G |
| rs41281678 | 18644122 | 6555 | SLC10A2 | umls:C1302401 | BeFree | Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S) of the ileal sodium dependent bile acid transporter gene (SLC10A2) has been reported. | 0.002909916 | 2008 | SLC10A2 | 13 | 103052700 | G | A |
| rs7023329 | 23361049 | 4507 | MTAP | umls:C1302401 | BeFree | One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). | 0.000271442 | 2013 | MTAP | 9 | 21816529 | A | G |
| rs7775 | 19067193 | 2487 | FRZB | umls:C1302401 | BeFree | To determine if this finding could be replicated, we investigated the association between two FRZB polymorphisms (Arg324Gly and Arg200Trp) and the risk of colorectal adenoma and cancer in nested case-control studies. | 0.000271442 | 2009 | FRZB | 2 | 182834857 | G | T,C,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1019 |
|---|---|
| Disease | colorectal adenoma |
| Case | (Waiting for update.) |