eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| squamous cell carcinoma of head and neck | ||||
| Disease ID | 852 |
|---|---|
| Disease | squamous cell carcinoma of head and neck |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0002860 | Squamous cell carcinoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0002860 | Squamous cell carcinoma | 232 HP:0002664 | Neoplasia | 94 HP:0030731 | Carcinoma | 6 HP:0012740 | Papilloma | 3 HP:0001824 | Weight loss | 3 HP:0002015 | Swallowing difficulty | 2 HP:0000718 | Aggressive behaviour | 2 HP:0002835 | Aspiration | 2 HP:0100751 | Esophageal neoplasm | 2 HP:0000217 | Dry mouth syndrome | 2 HP:0002890 | Thyroid carcinoma | 1 HP:0012115 | Liver inflammation | 1 HP:0002099 | Asthma | 1 HP:0200136 | Oral-pharyngeal dysphagia | 1 HP:0003002 | Breast carcinoma | 1 HP:0009919 | Retinoblastoma | 1 HP:0012531 | Pain | 1 HP:0000716 | Depression | 1 HP:0012378 | Fatigue | 1 HP:0100242 | Sarcoma | 1 HP:0004326 | Cachexia | 1 HP:0011459 | Esophageal carcinoma | 1 HP:0030159 | Cervical polyp | 1 HP:0001513 | Obesity | 1 |
| Disease ID | 852 |
|---|---|
| Disease | squamous cell carcinoma of head and neck |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:103) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042522 | 20935061 | 7157 | TP53 | umls:C1168401 | BeFree | Stratification analyses showed that a reduced risk associated with the -606CC genotype was more pronounced in subgroups of non-smokers, non-drinkers, younger subjects (defined as ≤57 years), carriers of the TP53 Arg/Arg (rs1042522) genotype, patients with oropharyngeal cancer or late-stage SCCHN. | 0.171769453 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 24289637 | 7157 | TP53 | umls:C1168401 | BeFree | Association between p53 Arg72Pro polymorphism and the risk of human papillomavirus-related head and neck squamous cell carcinoma: a meta-analysis. | 0.171769453 | 2014 | TP53 | 17 | 7676154 | G | T,C |
| rs1049253 | 23271051 | 836 | CASP3 | umls:C1168401 | BeFree | Taken together, our data suggest that the miR-885-5p binding site rs1049253T>C SNP in the 3'-UTR of CASP3 modulates CASP3 expression at both mRNA and protein levels and thus contributes to SCCHN susceptibility. | 0.001085767 | 2013 | CASP3 | 4 | 184627797 | A | G |
| rs1049253 | 23271051 | 100126334 | MIR885 | umls:C1168401 | BeFree | Taken together, our data suggest that the miR-885-5p binding site rs1049253T>C SNP in the 3'-UTR of CASP3 modulates CASP3 expression at both mRNA and protein levels and thus contributes to SCCHN susceptibility. | 0.000271442 | 2013 | CASP3 | 4 | 184627797 | A | G |
| rs1049430 | 25728707 | 6456 | SH3GL2 | umls:C1168401 | BeFree | SNP rs1049430 in the 3'-UTR of SH3GL2 regulates its expression: Clinical and prognostic implications in head and neck squamous cell carcinoma. | 0.000814326 | 2015 | SH3GL2 | 9 | 17796670 | T | G |
| rs1051266 | 20661649 | 6573 | SLC19A1 | umls:C1168401 | BeFree | A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population. | 0.000542884 | 2011 | SLC19A1 | 21 | 45537880 | T | C |
| rs1052133 | 20571908 | 4968 | OGG1 | umls:C1168401 | BeFree | In conclusion our data showed that the Ser326Cys polymorphism of the OGG1 gene may modify the risk of HNSCC associated with smoking. | 0.001357209 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 16381036 | 4968 | OGG1 | umls:C1168401 | BeFree | Interaction of OGG1 Ser326Cys polymorphism with cigarette smoking in head and neck squamous cell carcinoma. | 0.001357209 | 2006 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21986195 | 4968 | OGG1 | umls:C1168401 | BeFree | Role of OGG1 Ser326Cys polymorphism and 8-oxoguanine DNA damage in risk assessment of squamous cell carcinoma of head and neck in North Indian population. | 0.001357209 | 2011 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs10735810 | 22242137 | 1045 | CDX2 | umls:C1168401 | BeFree | In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs1138272 | 19401526 | 2952 | GSTT1 | umls:C1168401 | BeFree | We hypothesized that GSTM1 null, GSTT1 null, GSTP1 Ile(105)Val, and GSTP1 Ala(114)Val polymorphisms would individually and, more likely, collectively show an association with risk of SPM after index SCCHN. | 0.007524428 | 2009 | GSTP1 | 11 | 67586108 | C | T |
| rs11540654 | 24289637 | 7157 | TP53 | umls:C1168401 | BeFree | Association between p53 Arg72Pro polymorphism and the risk of human papillomavirus-related head and neck squamous cell carcinoma: a meta-analysis. | 0.171769453 | 2014 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11549465 | 12919954 | 3091 | HIF1A | umls:C1168401 | BeFree | We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. | 0.003528744 | 2003 | HIF1A;LOC105370526 | 14 | 61740839 | C | T |
| rs11549467 | 12919954 | 3091 | HIF1A | umls:C1168401 | BeFree | We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. | 0.003528744 | 2003 | HIF1A;LOC105370526 | 14 | 61740857 | G | A |
| rs11568820 | 22242137 | 1045 | CDX2 | umls:C1168401 | BeFree | In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection. | 0.000271442 | 2011 | NA | 12 | 47908762 | C | T |
| rs11614913 | 20549817 | 406941 | MIR149 | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 20549817 | 406938 | MIR146A | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 20549817 | 5018 | OXA1L | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000271442 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs121909237 | NA | 5728 | PTEN | umls:C1168401 | CLINVAR | NA | 0.482985861 | NA | PTEN | 10 | 87933121 | C | G |
| rs121909250 | NA | 3621 | ING1 | umls:C1168401 | CLINVAR | NA | 0.480271442 | NA | ING1 | 13 | 110719736 | G | C |
| rs121909251 | NA | 3621 | ING1 | umls:C1168401 | CLINVAR | NA | 0.480271442 | NA | ING1 | 13 | 110719739 | A | G |
| rs121909252 | NA | 3621 | ING1 | umls:C1168401 | CLINVAR | NA | 0.480271442 | NA | ING1 | 13 | 110719667 | C | A |
| rs1229984 | 20336794 | 125 | ADH1B | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001900093 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 20336794 | 10327 | AKR1A1 | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001085767 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 21940907 | 217 | ALDH2 | umls:C1168401 | BeFree | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and ALDH2 rs2238151 C allele (OR = 1.2; 95% CI, 1.1-1.4). | 0.001085767 | 2011 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 21940907 | 125 | ADH1B | umls:C1168401 | BeFree | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and ALDH2 rs2238151 C allele (OR = 1.2; 95% CI, 1.1-1.4). | 0.001900093 | 2011 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 20336794 | 551 | AVP | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001357209 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs13181 | 21890746 | 2068 | ERCC2 | umls:C1168401 | BeFree | Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent. | 0.001900093 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21890746 | 595 | CCND1 | umls:C1168401 | BeFree | Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent. | 0.015939126 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21945240 | 7515 | XRCC1 | umls:C1168401 | BeFree | Arg399Gln of XRCC1 appears to have a protective role in people those consume alcohol, while XPD Lys751Gln variants indicated ∼2-fold increased risk of SCCHN in all the co-variate groups. | 0.005700279 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1544410 | 22242137 | 1045 | CDX2 | umls:C1168401 | BeFree | In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection. | 0.000271442 | 2011 | VDR;LOC105369749 | 12 | 47846052 | C | T |
| rs1573496 | 20336794 | 10327 | AKR1A1 | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001085767 | 2010 | ADH7 | 4 | 99428512 | C | G |
| rs1573496 | 20336794 | 551 | AVP | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001357209 | 2010 | ADH7 | 4 | 99428512 | C | G |
| rs1573496 | 20336794 | 5738 | PTGFRN | umls:C1168401 | BeFree | The ADH7 A92G GG and combined CG + GG genotypes were associated with a decreased risk of SCCHN (GG: adjusted OR, 0.32; 95% CI, 0.13-0.82; CG + GG: adjusted OR, 0.74; 95% CI, 0.59-0.94; FPRP, .098) compared with the CC genotype. | 0.000271442 | 2010 | ADH7 | 4 | 99428512 | C | G |
| rs1573496 | 20336794 | 131 | ADH7 | umls:C1168401 | BeFree | A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neck. | 0.000271442 | 2010 | ADH7 | 4 | 99428512 | C | G |
| rs1573496 | 20336794 | 125 | ADH1B | umls:C1168401 | BeFree | The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). | 0.001900093 | 2010 | ADH7 | 4 | 99428512 | C | G |
| rs1695 | 19401526 | 2950 | GSTP1 | umls:C1168401 | BeFree | This large prospective cohort study supports a modestly increased risk of SPM after index SCCHN with GSTP1 Ile(105)Val polymorphism and an even greater risk of SPM with multiple combined GST risk genotypes. | 0.002985861 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19401526 | 2952 | GSTT1 | umls:C1168401 | BeFree | We hypothesized that GSTM1 null, GSTT1 null, GSTP1 Ile(105)Val, and GSTP1 Ala(114)Val polymorphisms would individually and, more likely, collectively show an association with risk of SPM after index SCCHN. | 0.007524428 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 15254763 | 2950 | GSTP1 | umls:C1168401 | BeFree | We hypothesized that head and neck squamous cell carcinoma (HNSCC) might respond differently to chemotherapeutic agents, especially cisplatin (CDDP) because of the presence of GSTP1 I105V polymorphism. | 0.002985861 | 2004 | GSTP1 | 11 | 67585218 | A | G |
| rs1799782 | 15252855 | 7515 | XRCC1 | umls:C1168401 | BeFree | In conclusion, the result from our study provides additional evidence of an association of the XRCC1 polymorphism (Arg194Trp) with SCCHN as markers of genetic susceptibility in the Korean population. | 0.005700279 | 2004 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 15800678 | 7515 | XRCC1 | umls:C1168401 | BeFree | In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 patients with head and neck carcinoma. | 0.005700279 | 2005 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 26011347 | 7515 | XRCC1 | umls:C1168401 | BeFree | The aim of this study was to investigate the association of XRCC1 Arg194Trp and Arg399Gln single nucleotide polymorphisms (SNP), smoking and alcohol consumption with the risk of HNSCC in Turkish population and also to compare to these results with the ones from both Turkish and different populations in the literature. | 0.005700279 | 2015 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 19334053 | 2946 | GSTM2 | umls:C1168401 | BeFree | In addition, the interaction of CYP2E1 (CYP2E1*5B and CYP2E1*6) with other genetic factors (null genotype of glutathione-S-Transferase M1, GSTM1, X-Ray Repair Cross Complementing Group I, XRCC1 (Arg194Trp), and environmental risk factors such as alcohol and tobacco in modifying HNSCC risk were investigated. | 0.000542884 | 2009 | XRCC1 | 19 | 43553422 | G | A |
| rs1799793 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | ERCC2 | 19 | 45364001 | C | T |
| rs1799793 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | ERCC2 | 19 | 45364001 | C | T |
| rs1801394 | 17596206 | 7298 | TYMS | umls:C1168401 | BeFree | Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such as methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G) and thymidylate synthase (TS), influence folate metabolism and thus might impact on HNSCC risk. | 0.001357209 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17596206 | 4552 | MTRR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.000542884 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17596206 | 4524 | MTHFR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.001628651 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17596206 | 4548 | MTR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.000814326 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 17596206 | 4552 | MTRR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.000542884 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17596206 | 7298 | TYMS | umls:C1168401 | BeFree | Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such as methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G) and thymidylate synthase (TS), influence folate metabolism and thus might impact on HNSCC risk. | 0.001357209 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17596206 | 4548 | MTR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.000814326 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 17596206 | 4524 | MTHFR | umls:C1168401 | BeFree | None of the polymorphisms showed any significant impact on HNSCC risk by genotype alone, but we found interactions between drinking habit and MTHFR C667T (P = 0.04), MTR A2756G (P = 0.04) and MTRR A66G (P = 0.03) polymorphisms. | 0.001628651 | 2007 | MTR | 1 | 236885200 | A | G |
| rs1982073 | 20308003 | 7040 | TGFB1 | umls:C1168401 | BeFree | We have recently shown that the single nucleotide polymorphism (SNP) rs1982073 of the TGFbeta1 gene (TGFB1) is associated with the survival of HNSCC patients who have undergone CRT. | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs2233678 | 20033770 | 5300 | PIN1 | umls:C1168401 | BeFree | We have previously demonstrated an association between a PIN1 promoter variant (-842G>C; rs2233678) and risk of squamous cell carcinoma of the head and neck, a finding supported by additional functional data. | 0.000542884 | 2010 | PIN1;LOC100996288 | 19 | 9834503 | G | C |
| rs2238151 | 21940907 | 125 | ADH1B | umls:C1168401 | BeFree | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and ALDH2 rs2238151 C allele (OR = 1.2; 95% CI, 1.1-1.4). | 0.001900093 | 2011 | ALDH2 | 12 | 111774029 | T | C |
| rs2238151 | 21940907 | 217 | ALDH2 | umls:C1168401 | BeFree | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and ALDH2 rs2238151 C allele (OR = 1.2; 95% CI, 1.1-1.4). | 0.001085767 | 2011 | ALDH2 | 12 | 111774029 | T | C |
| rs2292832 | 20549817 | 406941 | MIR149 | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 20549817 | 406938 | MIR146A | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 20549817 | 5018 | OXA1L | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000271442 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs25487 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21945240 | 7515 | XRCC1 | umls:C1168401 | BeFree | Arg399Gln of XRCC1 appears to have a protective role in people those consume alcohol, while XPD Lys751Gln variants indicated ∼2-fold increased risk of SCCHN in all the co-variate groups. | 0.005700279 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 24205020 | 7515 | XRCC1 | umls:C1168401 | BeFree | The results from this present meta-analysis suggest that XRCC1 Arg399Gln variants may contribute to HNSCC risk among Caucasians and to the risk of larynx squamous cell carcinoma. | 0.005700279 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15800678 | 7515 | XRCC1 | umls:C1168401 | BeFree | In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 patients with head and neck carcinoma. | 0.005700279 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 26011347 | 7515 | XRCC1 | umls:C1168401 | BeFree | The aim of this study was to investigate the association of XRCC1 Arg194Trp and Arg399Gln single nucleotide polymorphisms (SNP), smoking and alcohol consumption with the risk of HNSCC in Turkish population and also to compare to these results with the ones from both Turkish and different populations in the literature. | 0.005700279 | 2015 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | XRCC1 | 19 | 43552260 | C | T,G |
| rs25489 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | XRCC1 | 19 | 43552260 | C | T,G |
| rs28929495 | NA | 1956 | EGFR | umls:C1168401 | CLINVAR | NA | 0.162616374 | NA | EGFR | 7 | 55174014 | G | A,C,T |
| rs2910164 | 20549817 | 406941 | MIR149 | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 20549817 | 406938 | MIR146A | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 20549817 | 5018 | OXA1L | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000271442 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs3746444 | 20549817 | 406938 | MIR146A | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 20549817 | 5018 | OXA1L | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000271442 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 20549817 | 406941 | MIR149 | umls:C1168401 | BeFree | The authors genotyped 4 common polymorphisms in pre-miRNAs: Homo sapiens miRNA 146a (hsa-mir-146a) (reference SNP 2910164 [rs2910164]; guanine to cytosine [G→C]), hsa-mir-149 (rs2292832; guanine to thymine [G→T]), hsa-mir-196a2 (rs11614913; C→T), and hsa-mir-499 (rs3746444; adenine to guanine [A→G]) in 1109 patients with SCCHN (cases) and in 1130 cancer-free patients (controls) in a non-Hispanic white population that was frequency-matched by age and sex. | 0.000542884 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs386493716 | 21945240 | 7515 | XRCC1 | umls:C1168401 | BeFree | Arg399Gln of XRCC1 appears to have a protective role in people those consume alcohol, while XPD Lys751Gln variants indicated ∼2-fold increased risk of SCCHN in all the co-variate groups. | 0.005700279 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 24205020 | 7515 | XRCC1 | umls:C1168401 | BeFree | The results from this present meta-analysis suggest that XRCC1 Arg399Gln variants may contribute to HNSCC risk among Caucasians and to the risk of larynx squamous cell carcinoma. | 0.005700279 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 26011347 | 7515 | XRCC1 | umls:C1168401 | BeFree | The aim of this study was to investigate the association of XRCC1 Arg194Trp and Arg399Gln single nucleotide polymorphisms (SNP), smoking and alcohol consumption with the risk of HNSCC in Turkish population and also to compare to these results with the ones from both Turkish and different populations in the literature. | 0.005700279 | 2015 | NA | NA | NA | NA | NA |
| rs386493716 | 15800678 | 7515 | XRCC1 | umls:C1168401 | BeFree | In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 patients with head and neck carcinoma. | 0.005700279 | 2005 | NA | NA | NA | NA | NA |
| rs386493716 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | NA | NA | NA | NA | NA |
| rs386514057 | 20661649 | 6573 | SLC19A1 | umls:C1168401 | BeFree | A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population. | 0.000542884 | 2011 | NA | NA | NA | NA | NA |
| rs386519031 | 12919954 | 3091 | HIF1A | umls:C1168401 | BeFree | We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. | 0.003528744 | 2003 | NA | NA | NA | NA | NA |
| rs386545546 | 15252855 | 7515 | XRCC1 | umls:C1168401 | BeFree | In conclusion, the result from our study provides additional evidence of an association of the XRCC1 polymorphism (Arg194Trp) with SCCHN as markers of genetic susceptibility in the Korean population. | 0.005700279 | 2004 | NA | NA | NA | NA | NA |
| rs386545546 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | NA | NA | NA | NA | NA |
| rs386545546 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | NA | NA | NA | NA | NA |
| rs386545546 | 15800678 | 7515 | XRCC1 | umls:C1168401 | BeFree | In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 patients with head and neck carcinoma. | 0.005700279 | 2005 | NA | NA | NA | NA | NA |
| rs386545546 | 19334053 | 2946 | GSTM2 | umls:C1168401 | BeFree | In addition, the interaction of CYP2E1 (CYP2E1*5B and CYP2E1*6) with other genetic factors (null genotype of glutathione-S-Transferase M1, GSTM1, X-Ray Repair Cross Complementing Group I, XRCC1 (Arg194Trp), and environmental risk factors such as alcohol and tobacco in modifying HNSCC risk were investigated. | 0.000542884 | 2009 | NA | NA | NA | NA | NA |
| rs386545546 | 26011347 | 7515 | XRCC1 | umls:C1168401 | BeFree | The aim of this study was to investigate the association of XRCC1 Arg194Trp and Arg399Gln single nucleotide polymorphisms (SNP), smoking and alcohol consumption with the risk of HNSCC in Turkish population and also to compare to these results with the ones from both Turkish and different populations in the literature. | 0.005700279 | 2015 | NA | NA | NA | NA | NA |
| rs397507444 | 17596206 | 7298 | TYMS | umls:C1168401 | BeFree | Functional polymorphisms in genes encoding one-carbon metabolism enzymes, such as methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G) and thymidylate synthase (TS), influence folate metabolism and thus might impact on HNSCC risk. | 0.001357209 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs5443 | 18990763 | 2784 | GNB3 | umls:C1168401 | BeFree | The GNB3 C825T SNP thus represents a host derived prognostic marker in HNSCC, which allows identifying high-risk patients, which could benefit from novel and/or more aggressive therapeutic regimes. | 0.000271442 | 2008 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs671 | 17033202 | 217 | ALDH2 | umls:C1168401 | BeFree | ALDH2 1510 G/A (Glu487Lys) polymorphism interaction with age in head and neck squamous cell carcinoma. | 0.001085767 | 2006 | ALDH2 | 12 | 111803962 | G | A |
| rs731236 | 22242137 | 1045 | CDX2 | umls:C1168401 | BeFree | In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection. | 0.000271442 | 2011 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs7976091 | 22242137 | 1045 | CDX2 | umls:C1168401 | BeFree | In a post-hoc analysis of our previous prospective cohort study, VDR polymorphisms including Cdx2 G/A (rs11568820), FokI C/T (rs10735810), BsmI A/G (rs1544410), ApaI G/T (rs7976091), and TaqI T/C (rs731236) were genotyped by sequencing in 204 consecutive patients with HNSCC who underwent tumor resection. | 0.000271442 | 2011 | NA | 12 | 47910769 | C | T |
| rs861539 | 20804747 | 5888 | RAD51 | umls:C1168401 | BeFree | In conclusion our data showed that the C722T and the G135C polymorphisms of the XRCC3 and the RAD51 genes might be associated with HNSCC. | 0.001628651 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 20804747 | 7517 | XRCC3 | umls:C1168401 | BeFree | In conclusion our data showed that the C722T and the G135C polymorphisms of the XRCC3 and the RAD51 genes might be associated with HNSCC. | 0.002171535 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 21419115 | 7515 | XRCC1 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.005700279 | 2011 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 21419115 | 7517 | XRCC3 | umls:C1168401 | BeFree | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. | 0.002171535 | 2011 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs9282861 | 16575574 | 6817 | SULT1A1 | umls:C1168401 | BeFree | The purpose of this study was to evaluate whether SULT1A1 Arg213His polymorphisms are risk factors for head and neck squamous cell carcinoma (SCCHN). | 0.000271442 | 2006 | SULT1A1;NPIPB8 | 16 | 28606193 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 852 |
|---|---|
| Disease | squamous cell carcinoma of head and neck |
| Case | (Waiting for update.) |