eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| testicular germ cell tumor | ||||
| Disease ID | 1099 |
|---|---|
| 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:10) C0014130 | hormonal imbalance | 1 C0007099 | carcinoma in situ | 1 C0206661 | gonadoblastoma | 1 C0008625 | chromosomal abnormality | 1 C0037856 | testicular torsion | 1 C0686619 | lymph node metastases | 1 C0153687 | skin metastases | 1 C0206093 | primitive neuroectodermal tumor | 1 C0036631 | seminoma | 1 C0206093 | neuroectodermal tumors | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:23) 2261 | FGFR3 | UNIPROT 3815 | KIT | CTD_human 1761 | DMRT1 | GWASCAT 5307 | PITX1 | CTD_human;GWASCAT 6928 | HNF1B | GWASCAT 4254 | KITLG | GWASCAT;ORPHANET 55159 | RFWD3 | CTD_human;GWASCAT 81848 | SPRY4 | ORPHANET 1062 | CENPE | GWASCAT 8379 | MAD1L1 | CTD_human;GWASCAT 6794 | STK11 | CTD_human;UNIPROT 9534 | ZNF254 | GWASCAT 63978 | PRDM14 | CTD_human;GWASCAT 9673 | SLC25A44 | GWASCAT 4313 | MMP2 | CTD_human 101927688 | SEPT4-AS1 | GWASCAT 578 | BAK1 | GWASCAT 55729 | ATF7IP | GWASCAT 8888 | MCM3AP | GWASCAT 7371 | UCK2 | GWASCAT 1618 | DAZL | CTD_human 27306 | HPGDS | CTD_human;GWASCAT 6793 | STK10 | UNIPROT |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:24) 578 | BAK1 | CIPHER 1312 | COMT | CIPHER 1588 | CYP19A1 | CIPHER 1543 | CYP1A1 | CIPHER 1544 | CYP1A2 | CIPHER 1545 | CYP1B1 | CIPHER 2099 | ESR1 | CIPHER 2100 | ESR2 | CIPHER 3292 | HSD17B1 | CIPHER 3295 | HSD17B4 | CIPHER 4254 | KITLG | CIPHER 81848 | SPRY4 | CIPHER 6817 | SULT1A1 | CIPHER 6783 | SULT1E1 | CIPHER 5307 | PITX1 | CTD_human 55159 | RFWD3 | CTD_human 8379 | MAD1L1 | CTD_human 63978 | PRDM14 | CTD_human 6794 | STK11 | CTD_human 3815 | KIT | CTD_human 4313 | MMP2 | CTD_human 1618 | DAZL | CTD_human 27306 | HPGDS | CTD_human 8093 | MGCT | CTD_human |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1099 |
|---|---|
| Disease | testicular germ cell tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002664 | Neoplasia | 3 HP:0000028 | Cryptorchidism | 2 HP:0012215 | Testicular microlithiasis | 2 HP:0001061 | Acne | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0000078 | Genital abnormalities | 1 HP:0030731 | Carcinoma | 1 HP:0100813 | Testicular torsion | 1 HP:0030065 | Primitive neuroectodermal tumor | 1 HP:0000150 | Gonadoblastoma | 1 |
| Disease ID | 1099 |
|---|---|
| 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:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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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| (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.) |
| Disease ID | 1099 |
|---|---|
| Disease | testicular germ cell tumor |
| Case | (Waiting for update.) |