PedAM
Pediatric Disease Annotations & Medicines
| testicular germ cell tumor | ||||
| Disease ID | 610 |
|---|---|
| Disease | testicular germ cell tumor |
| Definition | A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. |
| Synonym | germ cell neoplasm of testis germ cell neoplasm of the testis germ cell tumor of testis germ cell tumor of testis (disorder) germ cell tumor of the testis germ cell tumour of testis male germ cell tumor mgct testicular germ cell neoplasm testicular germ cell neoplasms tgct |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1336708 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0686619 | lymph node metastases | 1 C0206093 | primitive neuroectodermal tumor | 1 C0206661 | gonadoblastoma | 1 C0220650 | brain metastasis | 1 C0206093 | neuroectodermal tumors | 1 C0036631 | seminoma | 1 C0153687 | skin metastases | 1 C0008625 | chromosomal abnormality | 1 C0007099 | carcinoma in situ | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:23) KIT | 3815 | CTD_human HNF1B | 6928 | GWASCAT STK11 | 6794 | CTD_human;UNIPROT CENPE | 1062 | GWASCAT DMRT1 | 1761 | GWASCAT MMP2 | 4313 | CTD_human PITX1 | 5307 | CTD_human;GWASCAT KITLG | 4254 | GWASCAT;ORPHANET FGFR3 | 2261 | UNIPROT SEPT4-AS1 | 101927688 | GWASCAT SPRY4 | 81848 | ORPHANET MAD1L1 | 8379 | CTD_human;GWASCAT UCK2 | 7371 | GWASCAT BAK1 | 578 | GWASCAT SLC25A44 | 9673 | GWASCAT RFWD3 | 55159 | CTD_human;GWASCAT ATF7IP | 55729 | GWASCAT MCM3AP | 8888 | GWASCAT ZNF254 | 9534 | GWASCAT PRDM14 | 63978 | CTD_human;GWASCAT HPGDS | 27306 | CTD_human;GWASCAT DAZL | 1618 | CTD_human STK10 | 6793 | UNIPROT |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:14) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 610 |
|---|---|
| Disease | testicular germ cell tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002664 | Neoplasia | 3 HP:0000028 | Cryptorchidism | 1 HP:0030065 | Primitive neuroectodermal tumor | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0012215 | Testicular microlithiasis | 1 HP:0030731 | Carcinoma | 1 HP:0000150 | Gonadoblastoma | 1 |
| Disease ID | 610 |
|---|---|
| Disease | testicular germ cell tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C1828448 | paraneoplastic encephalitis C0555278 | cerebral metastasis C0220650 | brain metastases C0206663 | primitive neuroectodermal tumors C0206659 | embryonal carcinoma C0153690 | bone metastasis C0153677 | mediastinal metastasis C0153676 | pulmonary metastasis C0153676 | pulmonary metastases C0027663 | multiple primary neoplasms C0014145 | yolk sac tumor C0008626 | chromosomal abnormality |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:45) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs12699477 | 23666239 | 8379 | MAD1L1 | umls:C1336708 | GWASCAT | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | MAD1L1 | 7 | 1929317 | T | C |
| rs1508595 | 19483681 | 4254 | KITLG | umls:C1336708 | GAD | [KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.] | 0.243452799 | 2009 | NA | 12 | 88592239 | G | A |
| rs1695 | 19741569 | 2944 | GSTM1 | umls:C1336708 | BeFree | Germline deletion polymorphisms in the glutathione S-transferase mu 1 (GSTM1) and the GST theta 1 (GSTT1), and a functional single nucleotide polymorphism in GST pi 1 (GSTP1, Ile105Val), were analyzed in TGCT survivors (TCSs) (n = 675) and controls (n = 189). | 0.000271442 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19741569 | 2952 | GSTT1 | umls:C1336708 | BeFree | Germline deletion polymorphisms in the glutathione S-transferase mu 1 (GSTM1) and the GST theta 1 (GSTT1), and a functional single nucleotide polymorphism in GST pi 1 (GSTP1, Ile105Val), were analyzed in TGCT survivors (TCSs) (n = 675) and controls (n = 189). | 0.000271442 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19741569 | 373156 | GSTK1 | umls:C1336708 | BeFree | Germline deletion polymorphisms in the glutathione S-transferase mu 1 (GSTM1) and the GST theta 1 (GSTT1), and a functional single nucleotide polymorphism in GST pi 1 (GSTP1, Ile105Val), were analyzed in TGCT survivors (TCSs) (n = 675) and controls (n = 189). | 0.000271442 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19741569 | 133482 | SLCO6A1 | umls:C1336708 | BeFree | Germline deletion polymorphisms in the glutathione S-transferase mu 1 (GSTM1) and the GST theta 1 (GSTT1), and a functional single nucleotide polymorphism in GST pi 1 (GSTP1, Ile105Val), were analyzed in TGCT survivors (TCSs) (n = 675) and controls (n = 189). | 0.000271442 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs17021463 | 23666239 | 27306 | HPGDS | umls:C1336708 | GWASCAT | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240542884 | 2013 | HPGDS | 4 | 94303661 | T | G |
| rs2072499 | 23666240 | 9673 | SLC25A44 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.12 | 2013 | SLC25A44 | 1 | 156199819 | A | G |
| rs2072499 | 25877299 | 9673 | SLC25A44 | umls:C1336708 | GWASCAT | Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. | 0.12 | 2015 | SLC25A44 | 1 | 156199819 | A | G |
| rs210138 | 23666239 | 578 | BAK1 | umls:C1336708 | GWASCAT | Meta-analysis identifies four new loci associated with testicular germ cell tumor. | 0.122638474 | 2013 | BAK1 | 6 | 33574761 | A | G |
| rs210138 | 23666240 | 578 | BAK1 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.122638474 | 2013 | BAK1 | 6 | 33574761 | A | G |
| rs210138 | 19483681 | 578 | BAK1 | umls:C1336708 | GWASCAT | A genome-wide association study of testicular germ cell tumor. | 0.122638474 | 2009 | BAK1 | 6 | 33574761 | A | G |
| rs210138 | 19483681 | 578 | BAK1 | umls:C1336708 | GAD | [A genome-wide association study of testicular germ cell tumor.] | 0.122638474 | 2009 | BAK1 | 6 | 33574761 | A | G |
| rs2195987 | 25877299 | 9534 | ZNF254 | umls:C1336708 | GWASCAT | Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. | 0.12 | 2015 | NA | 19 | 23966743 | C | T |
| rs2720460 | 25877299 | 1062 | CENPE | umls:C1336708 | GWASCAT | Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. | 0.12 | 2015 | CENPE | 4 | 103133529 | A | G |
| rs2720460 | 23666240 | 1062 | CENPE | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.12 | 2013 | CENPE | 4 | 103133529 | A | G |
| rs2839186 | 23666240 | 8888 | MCM3AP | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.12 | 2013 | MCM3AP | 21 | 46270154 | C | T |
| rs2900333 | 23666240 | 55729 | ATF7IP | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.120271442 | 2013 | ATF7IP | 12 | 14500933 | C | T |
| rs3790672 | 23666240 | 7371 | UCK2 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.120271442 | 2013 | UCK2 | 1 | 165904155 | T | C |
| rs3790672 | 25877299 | 7371 | UCK2 | umls:C1336708 | GWASCAT | Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. | 0.120271442 | 2015 | UCK2 | 1 | 165904155 | T | C |
| rs3805663 | 23666240 | 5307 | PITX1 | umls:C1336708 | GWASCAT | Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation. | 0.240271442 | 2013 | PITX1 | 5 | 135030510 | A | G |
| rs4624820 | 19483681 | 81848 | SPRY4 | umls:C1336708 | GAD | [A genome-wide association study of testicular germ cell tumor.] | 0.122638474 | 2009 | NA | 5 | 142302223 | G | A |
| rs4888262 | 23666239 | 55159 | RFWD3 | umls:C1336708 | GWASCAT | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | RFWD3 | 16 | 74636560 | C | T |
| rs7010162 | 23666240 | 63978 | PRDM14 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.24 | 2013 | PRDM14 | 8 | 70064270 | C | T |
| rs7221274 | 23666239 | 27306 | HPGDS | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240542884 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7221274 | 23666239 | 8379 | MAD1L1 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7221274 | 23666239 | 132160 | PPM1M | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7221274 | 23666239 | 56155 | TEX14 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7221274 | 23666239 | 5889 | RAD51C | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7221274 | 23666239 | 55159 | RFWD3 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | PPM1E | 17 | 58930767 | A | G |
| rs7501939 | 25877299 | 6928 | HNF1B | umls:C1336708 | GWASCAT | Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. | 0.12 | 2015 | HNF1B | 17 | 37741165 | C | T |
| rs755383 | 23666240 | 1761 | DMRT1 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.120814326 | 2013 | DMRT1 | 9 | 863635 | C | T |
| rs755383 | 23666239 | 1761 | DMRT1 | umls:C1336708 | GWASCAT | Meta-analysis identifies four new loci associated with testicular germ cell tumor. | 0.120814326 | 2013 | DMRT1 | 9 | 863635 | C | T |
| rs9905704 | 23666239 | 27306 | HPGDS | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240542884 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 8379 | MAD1L1 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 5889 | RAD51C | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 56155 | TEX14 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 132160 | PPM1M | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.000271442 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666240 | 101927688 | SEPT4-AS1 | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.12 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 55159 | RFWD3 | umls:C1336708 | BeFree | In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12-1.26; P = 1.11 × 10(-8)), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14-1.29; P = 5.59 × 10(-9)), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18-1.34; P = 5.15 × 10(-12)) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18-1.33; P = 4.32 × 10(-13) and rs7221274: OR = 1.20, 95% CI = 1.12-1.28; P = 4.04 × 10(-9)), a locus that includes TEX14, RAD51C and PPM1E. | 0.240271442 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs9905704 | 23666239 | 101927688 | SEPT4-AS1 | umls:C1336708 | GWASCAT | Meta-analysis identifies four new loci associated with testicular germ cell tumor. | 0.12 | 2013 | SEPT4-AS1 | 17 | 58555182 | G | T |
| rs995030 | 19483681 | 4254 | KITLG | umls:C1336708 | GWASCAT | KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12. | 0.243452799 | 2009 | KITLG | 12 | 88496894 | A | G |
| rs995030 | 23666240 | 4254 | KITLG | umls:C1336708 | GWASCAT | Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. | 0.243452799 | 2013 | KITLG | 12 | 88496894 | A | G |
| rs995030 | 23666239 | 4254 | KITLG | umls:C1336708 | GWASCAT | Meta-analysis identifies four new loci associated with testicular germ cell tumor. | 0.243452799 | 2013 | KITLG | 12 | 88496894 | A | G |
| rs995030 | 19483681 | 4254 | KITLG | umls:C1336708 | GAD | [KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.] | 0.243452799 | 2009 | KITLG | 12 | 88496894 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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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.) | |