PedAM
Pediatric Disease Annotations & Medicines
| male infertility | ||||
| Disease ID | 498 |
|---|---|
| Disease | male infertility |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0042341 | varicocele | 14 C0004509 | azoospermia | 14 C0009450 | infection | 6 C0042341 | varicoceles | 3 C0008151 | chlamydia trachomatis | 3 C0729552 | genital infection | 1 C0020619 | hypogonadism | 1 C0242350 | impotence | 1 C0518948 | chlamydia trachomatis infection | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:78) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042389 | 24488272 | 81539 | SLC38A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.000542884 | 2014 | CYP2B6 | 19 | 41018248 | T | C |
| rs1042389 | 24488272 | 1543 | CYP1A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.131725539 | 2014 | CYP2B6 | 19 | 41018248 | T | C |
| rs1048943 | 24488272 | 1543 | CYP1A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.131725539 | 2014 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 24488272 | 81539 | SLC38A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.000542884 | 2014 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1052133 | 23376476 | 4968 | OGG1 | umls:C0021364 | BeFree | OGG1 Ser326Cys polymorphism interacts with cigarette smoking to increase oxidative DNA damage in human sperm and the risk of male infertility. | 0.120271442 | 2013 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1059060 | 22594646 | 5395 | PMS2 | umls:C0021364 | BeFree | Meanwhile, we also identified a possible contribution of PMS2 rs1059060 to the risk of male infertility with normal sperm count. | 0.000271442 | 2012 | NA | NA | NA | NA | NA |
| rs10841496 | 19478329 | 5139 | PDE3A | umls:C0021364 | GWASCAT | Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. | 0.122367032 | 2009 | PDE3A | 12 | 20368720 | C | A |
| rs10841496 | 19478329 | 5139 | PDE3A | umls:C0021364 | GAD | [Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.] | 0.122367032 | 2009 | PDE3A | 12 | 20368720 | C | A |
| rs10848911 | 19478329 | 84766 | CRACR2A | umls:C0021364 | GAD | [Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.] | 0.002367032 | 2009 | CRACR2A | 12 | 3705072 | G | A |
| rs1136410 | 25106941 | 142 | PARP1 | umls:C0021364 | BeFree | Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia. | 0.000271442 | 2014 | PARP1 | 1 | 226367601 | A | G |
| rs121908759 | 25443471 | 1080 | CFTR | umls:C0021364 | BeFree | The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility. | 0.168111358 | 2014 | CFTR | 7 | 117592032 | G | A |
| rs1256049 | 15998774 | 2100 | ESR2 | umls:C0021364 | GAD | [The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility.] | 0.008186863 | 2005 | ESR2 | 14 | 64257333 | C | T |
| rs13181 | 20864414 | 2067 | ERCC1 | umls:C0021364 | BeFree | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF Ser835Ser) were selected to evaluate their potential impact on sperm DNA damage and male infertility. | 0.002638474 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 20864414 | 2072 | ERCC4 | umls:C0021364 | BeFree | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF Ser835Ser) were selected to evaluate their potential impact on sperm DNA damage and male infertility. | 0.002638474 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 20864414 | 2068 | ERCC2 | umls:C0021364 | BeFree | In this study, four polymorphisms in NER pathway (XPA(-4) G/A, ERCC1 C8092A, XPD Lys751Gln and XPF Ser835Ser) were selected to evaluate their potential impact on sperm DNA damage and male infertility. | 0.002638474 | 2010 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs1394205 | 22414334 | 2492 | FSHR | umls:C0021364 | BeFree | This meta-analysis supports that FSHR G-29A, Thr(307)Ala and Asn(680)Ser polymorphisms may not be capable of causing male infertility susceptibility. | 0.016916611 | 2012 | FSHR | 2 | 49154446 | C | T |
| rs1399645 | 19478329 | 11249 | NXPH2 | umls:C0021364 | GAD | [Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.] | 0.002367032 | 2009 | LOC105373644 | 2 | 139390262 | C | T |
| rs141425171 | 11422119 | 367 | AR | umls:C0021364 | BeFree | A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility. | 0.187371256 | 2001 | AR | X | 67717574 | A | G,T |
| rs144848 | 16257105 | 675 | BRCA2 | umls:C0021364 | BeFree | The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. | 0.002638474 | 2006 | BRCA2 | 13 | 32332592 | A | C |
| rs175080 | 19808033 | 4439 | MSH5 | umls:C0021364 | BeFree | The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. | 0.002638474 | 2010 | MLH3 | 14 | 75047125 | G | A |
| rs175080 | 19808033 | 27030 | MLH3 | umls:C0021364 | BeFree | The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. | 0.002638474 | 2010 | MLH3 | 14 | 75047125 | G | A |
| rs1799931 | 24488272 | 1543 | CYP1A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.131725539 | 2014 | NAT2 | 8 | 18400860 | G | A |
| rs1799931 | 24488272 | 81539 | SLC38A1 | umls:C0021364 | BeFree | Novel interactions were also observed between the MR of SEC and rs1042389 in CYP2B6, rs1048943 in CYP1A1, and rs1799931 in NAT2 on male infertility (P inter = 1.06 × 10(-4), 1.14 × 10(-3), 3.55 × 10(-3), respectively). | 0.000542884 | 2014 | NAT2 | 8 | 18400860 | G | A |
| rs1799983 | 25517965 | 342977 | NANOS3 | umls:C0021364 | BeFree | Of five NOS gene polymorphisms investigated in the present study, we found NOS3 rs1799983 might cause oxidative sperm DNA damage, thereby contributing to male infertility. | 0.000542884 | 2014 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 25517965 | 4843 | NOS2 | umls:C0021364 | BeFree | Of five NOS gene polymorphisms investigated in the present study, we found NOS3 rs1799983 might cause oxidative sperm DNA damage, thereby contributing to male infertility. | 0.000271442 | 2014 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 20586099 | 4846 | NOS3 | umls:C0021364 | BeFree | The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility. | 0.125819831 | 2010 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 25505202 | 4846 | NOS3 | umls:C0021364 | BeFree | Endothelial nitric oxide synthase (eNOS) T-786C, 4a4b, and G894T polymorphisms and male infertility: study for idiopathic asthenozoospermia and meta-analysis. | 0.125819831 | 2015 | NOS3 | 7 | 150999023 | T | G |
| rs1801394 | 25578539 | 4524 | MTHFR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.148446653 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25578539 | 4552 | MTRR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25578539 | 4548 | MTR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 25578539 | 4548 | MTR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 25578539 | 4552 | MTRR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 16861746 | 4524 | MTHFR | umls:C0021364 | BeFree | By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility. | 0.148446653 | 2006 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 16861746 | 4548 | MTR | umls:C0021364 | BeFree | By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility. | 0.122909916 | 2006 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 25578539 | 4524 | MTHFR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.148446653 | 2014 | MTR | 1 | 236885200 | A | G |
| rs2066853 | 15474075 | 196 | AHR | umls:C0021364 | BeFree | To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro185Ala polymorphism in the gene for aryl hydrocarbon receptor repressor (AHRR) constitutes a susceptibility locus for dioxin-related male infertility. | 0.120814326 | 2004 | AHR | 7 | 17339486 | G | A |
| rs2070565 | 22116073 | 2548 | GAA | umls:C0021364 | BeFree | These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans. | 0.000271442 | 2012 | DNMT3L | 21 | 44261270 | T | C |
| rs2070565 | 22116073 | 29947 | DNMT3L | umls:C0021364 | BeFree | These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans. | 0.000271442 | 2012 | DNMT3L | 21 | 44261270 | T | C |
| rs2070565 | 22116073 | 351 | APP | umls:C0021364 | BeFree | These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans. | 0.000271442 | 2012 | DNMT3L | 21 | 44261270 | T | C |
| rs2075789 | 19808033 | 27030 | MLH3 | umls:C0021364 | BeFree | The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. | 0.002638474 | 2010 | MSH5;MSH5-SAPCD1;LOC105375020 | 6 | 31740551 | C | T |
| rs2075789 | 19808033 | 4439 | MSH5 | umls:C0021364 | BeFree | The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. | 0.002638474 | 2010 | MSH5;MSH5-SAPCD1;LOC105375020 | 6 | 31740551 | C | T |
| rs2303846 | 21601192 | 64506 | CPEB1 | umls:C0021364 | BeFree | Two SNPs from two genes (rs6631 of CGA and rs2303846 of CPEB1) were found to be associated with idiopathic male infertility. | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs28368082 | 25005169 | 23626 | SPO11 | umls:C0021364 | BeFree | Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility. | 0.002909916 | 2014 | SPO11;LOC105372687 | 20 | 57335452 | C | T |
| rs35397110 | 18377898 | 83844 | USP26 | umls:C0021364 | BeFree | The 1090C>T,L364F variant of the ubiquitin protease 26 (USP26) gene does not appear to be related to male infertility. | 0.02691381 | 2008 | USP26 | X | 133027131 | G | A |
| rs36069724 | 18550510 | 7180 | CRISP2 | umls:C0021364 | BeFree | Although none of the many polymorphisms identified herein showed a significant association with male infertility, functional studies suggested that the C196R polymorphism may compromise CRISP2 function. | 0.002909916 | 2008 | CRISP2 | 6 | 49695854 | A | G |
| rs3819392 | 24083421 | 3815 | KIT | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.083181358 | 2014 | KIT | 4 | 54660528 | G | A |
| rs3819392 | 24083421 | 4254 | KITLG | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.002909916 | 2014 | KIT | 4 | 54660528 | G | A |
| rs386596107 | 22206979 | 5444 | PON1 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.121085767 | 2012 | NA | NA | NA | NA | NA |
| rs386596107 | 22206979 | 6648 | SOD2 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.122638474 | 2012 | NA | NA | NA | NA | NA |
| rs386602118 | 22679788 | 627 | BDNF | umls:C0021364 | BeFree | No association between the G196A and C270T polymorphism of the brain-derived neurotrophic factor gene and male infertility. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
| rs397507444 | 25578539 | 4524 | MTHFR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.148446653 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 25578539 | 4552 | MTRR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22457816 | 4524 | MTHFR | umls:C0021364 | BeFree | Association of the MTHFR A1298C variant with unexplained severe male infertility. | 0.148446653 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20935396 | 4524 | MTHFR | umls:C0021364 | BeFree | MTHFR A1298C polymorphism and idiopathic male infertility. | 0.148446653 | 2010 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 20978181 | 4524 | MTHFR | umls:C0021364 | BeFree | Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility. | 0.148446653 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 25578539 | 4548 | MTR | umls:C0021364 | BeFree | We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. | 0.122909916 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 22175540 | 4524 | MTHFR | umls:C0021364 | BeFree | Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis. | 0.148446653 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs41322052 | 20586099 | 4846 | NOS3 | umls:C0021364 | BeFree | The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility. | 0.125819831 | 2010 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 25505202 | 4846 | NOS3 | umls:C0021364 | BeFree | Endothelial nitric oxide synthase (eNOS) T-786C, 4a4b, and G894T polymorphisms and male infertility: study for idiopathic asthenozoospermia and meta-analysis. | 0.125819831 | 2015 | NOS3 | 7 | 150993018 | C | T |
| rs4474514 | 24083421 | 3815 | KIT | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.083181358 | 2014 | KITLG | 12 | 88560182 | G | A |
| rs4474514 | 24083421 | 4254 | KITLG | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.002909916 | 2014 | KITLG | 12 | 88560182 | G | A |
| rs4880 | 22206979 | 5444 | PON1 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.121085767 | 2012 | SOD2 | 6 | 159692840 | A | G |
| rs4880 | 22206979 | 6648 | SOD2 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.122638474 | 2012 | SOD2 | 6 | 159692840 | A | G |
| rs6068020 | 19478329 | 57167 | SALL4 | umls:C0021364 | GAD | [Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.] | 0.002367032 | 2009 | NA | 20 | 51943113 | T | C |
| rs6165 | 21105990 | 2492 | FSHR | umls:C0021364 | BeFree | Evaluating the role of the FSH receptor gene Thr307-Ala and Asn680-Ser polymorphisms in male infertility and their association with semen quality and reproductive hormones. | 0.016916611 | 2011 | FSHR | 2 | 48963902 | C | T,G |
| rs6165 | 22421444 | 2492 | FSHR | umls:C0021364 | BeFree | In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility. | 0.016916611 | 2012 | FSHR | 2 | 48963902 | C | T,G |
| rs6165 | 22414334 | 2492 | FSHR | umls:C0021364 | BeFree | This meta-analysis supports that FSHR G-29A, Thr(307)Ala and Asn(680)Ser polymorphisms may not be capable of causing male infertility susceptibility. | 0.016916611 | 2012 | FSHR | 2 | 48963902 | C | T,G |
| rs6166 | 23413141 | 2492 | FSHR | umls:C0021364 | BeFree | No statistical difference was detected in allelic distribution of the FSHR Asn680Ser between the Baltic cohort and Estonian male infertility group. | 0.016916611 | 2013 | FSHR | 2 | 48962782 | C | T |
| rs6166 | 22414334 | 2492 | FSHR | umls:C0021364 | BeFree | This meta-analysis supports that FSHR G-29A, Thr(307)Ala and Asn(680)Ser polymorphisms may not be capable of causing male infertility susceptibility. | 0.016916611 | 2012 | FSHR | 2 | 48962782 | C | T |
| rs6166 | 21105990 | 2492 | FSHR | umls:C0021364 | BeFree | Evaluating the role of the FSH receptor gene Thr307-Ala and Asn680-Ser polymorphisms in male infertility and their association with semen quality and reproductive hormones. | 0.016916611 | 2011 | FSHR | 2 | 48962782 | C | T |
| rs6166 | 22421444 | 2492 | FSHR | umls:C0021364 | BeFree | In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility. | 0.016916611 | 2012 | FSHR | 2 | 48962782 | C | T |
| rs6523 | 17559848 | 3640 | INSL3 | umls:C0021364 | BeFree | The common INSL3 G178A polymorphism was not statistically significantly associated with male infertility (P>.05), even though INSL3 is essential for the occurrence of bilateral cryptorchidism. | 0.002638474 | 2007 | INSL3 | 19 | 17821329 | T | C |
| rs662 | 22206979 | 5444 | PON1 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.121085767 | 2012 | PON1 | 7 | 95308134 | T | C |
| rs662 | 22206979 | 6648 | SOD2 | umls:C0021364 | BeFree | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes were associated with a significantly higher risk of male infertility. | 0.122638474 | 2012 | PON1 | 7 | 95308134 | T | C |
| rs6631 | 21601192 | 64506 | CPEB1 | umls:C0021364 | BeFree | Two SNPs from two genes (rs6631 of CGA and rs2303846 of CPEB1) were found to be associated with idiopathic male infertility. | 0.000271442 | 2011 | CGA | 6 | 87085541 | A | T |
| rs9814870 | 19478329 | 84100 | ARL6 | umls:C0021364 | GAD | [Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.] | 0.002367032 | 2009 | NA | 3 | 95969999 | A | G |
| rs995030 | 24083421 | 4254 | KITLG | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.002909916 | 2014 | KITLG | 12 | 88496894 | A | G |
| rs995030 | 24083421 | 3815 | KIT | umls:C0021364 | BeFree | To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. | 0.083181358 | 2014 | KITLG | 12 | 88496894 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:86) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 84717983 | rs12088543 | T | C | rs12088543 | 22633400 | 3.31E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 1 | 84728627 | rs11163933 | C | T | rs11163933 | 22633400 | 9.04E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | NA |
| 1 | 84728697 | rs11163934 | C | A | rs11163934 | 22633400 | 3.49E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 2 | 140147832 | rs1399645 | C | T | rs1399645 | 19478329 | 9.00E-07 | azoospermia | NA | NA | 52 oligozoospermic European ancestry males; 40 non-obstructive azoospermic European ancestry males; 80 European ancestry male controls | European(172) | ALL(172) | EUR(172) | ALL(172) | Male infertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | NA | G | NA |
| 3 | 21799709 | rs4538394 | A | T | rs4538394 | 22633400 | 3.67E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 3 | 72349863 | rs4128691 | C | T | rs4128691 | 22633400 | 8.40E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 3 | 78640492 | rs6807667 | T | C | rs6807667 | 22633400 | 2.85E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 3 | 78650645 | rs1507417 | A | G | rs1507417 | 22633400 | 2.41E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | ROBO1 |
| 3 | 95688843 | rs9814870 | A | G | rs9814870 | 19478329 | 7.00E-07 | oligozoospermia | NA | NA | 52 oligozoospermic European ancestry males; 40 non-obstructive azoospermic European ancestry males; 80 European ancestry male controls | European(172) | ALL(172) | EUR(172) | ALL(172) | Male infertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | NA | A | NA |
| 3 | 154902256 | rs9851460 | A | G | rs9851460 | 22633400 | 1.24E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G,A | NA |
| 4 | 55751071 | rs11723705 | T | C | rs11723705 | 22633400 | 3.63E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 4 | 55751945 | rs6825459 | A | G | rs6825459 | 22633400 | 3.63E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 160315446 | rs17427187 | G | T | rs17427187 | 22633400 | 9.48E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 160315600 | rs11956144 | A | G | rs11956144 | 22633400 | 5.96E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 5 | 160315633 | rs17427250 | A | G | rs17427250 | 22633400 | 8.30E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | NA |
| 5 | 160316848 | rs4130562 | C | A | rs4130562 | 22633400 | 9.48E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 7 | 98112974 | rs1472272 | T | C | rs1472272 | 22633400 | 1.44E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 8 | 3530700 | rs10088000 | G | C | rs10088000 | 22633400 | 4.43E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | CSMD1 |
| 8 | 22647850 | rs17088625 | T | C | rs17088625 | 22633400 | 7.20E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | PEBP4 |
| 8 | 22661286 | rs10216846 | T | C | rs10216846 | 22633400 | 8.83E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | PEBP4 |
| 8 | 143798552 | rs6471590 | G | A | rs6471590 | 22633400 | 5.32E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | LOC100288181 |
| 9 | 25233484 | rs10966811 | G | A | rs10966811 | 22633400 | 5.57E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 9 | 28064791 | rs2123205 | C | T | rs2123205 | 22633400 | 6.10E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | LINGO2 |
| 9 | 28071285 | rs6476035 | G | C | rs6476035 | 22633400 | 1.63E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | LINGO2 |
| 9 | 28093232 | rs12339229 | C | T | rs12339229 | 22633400 | 1.23E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | LINGO2 |
| 9 | 28104320 | rs1060558 | A | T | rs1060558 | 22633400 | 9.31E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | LINGO2 |
| 9 | 29101432 | rs10968944 | A | G | rs10968944 | 22633400 | 3.86E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | LINGO2 |
| 9 | 29106566 | rs7864992 | C | T | rs7864992 | 22633400 | 3.86E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | LINGO2 |
| 9 | 29119391 | rs10968960 | C | T | rs10968960 | 22633400 | 4.27E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | LINGO2 |
| 9 | 29119429 | rs10968961 | G | A | rs10968961 | 22633400 | 3.87E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | LINGO2 |
| 9 | 29130674 | rs10757800 | A | G,T | rs10757800 | 22633400 | 3.86E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | LINGO2 |
| 9 | 29136748 | rs2050993 | G | A | rs2050993 | 22633400 | 4.80E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | LINGO2 |
| 9 | 29146765 | rs10813007 | G | C | rs10813007 | 22633400 | 3.55E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | LINGO2 |
| 9 | 29168848 | rs10757816 | T | A | rs10757816 | 22633400 | 4.39E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | LINGO2 |
| 9 | 32116520 | rs16917898 | G | A | rs16917898 | 22633400 | 7.99E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 9 | 38738489 | rs11794651 | C | G,T | rs11794651 | 22633400 | 9.48E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 9 | 78812472 | rs11144790 | G | A | rs11144790 | 22633400 | 6.45E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | PCSK5 |
| 9 | 80919756 | rs3739474 | T | G | rs3739474 | 22633400 | 5.00E-04 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | PSAT1 |
| 9 | 80974407 | rs9697134 | T | C | rs9697134 | 22633400 | 8.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 9 | 81004205 | rs10867190 | G | A | rs10867190 | 22633400 | 5.80E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 9 | 81013826 | rs10867192 | T | C | rs10867192 | 22633400 | 8.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 9 | 81019406 | rs10867195 | G | A | rs10867195 | 22633400 | 8.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 9 | 81020418 | rs7867029 | G | C | rs7867029 | 22633400 | 1.04E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 9 | 81021662 | rs7047148 | A | G | rs7047148 | 22633400 | 8.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | NA |
| 9 | 81031994 | rs10780235 | G | C | rs10780235 | 22633400 | 8.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 10 | 127345607 | rs9422913 | C | T | rs9422913 | 22633400 | 9.89E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | C10orf122 |
| 10 | 134034379 | rs2035804 | A | G | rs2035804 | 22633400 | 7.55E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | STK32C |
| 11 | 21569724 | rs7106789 | T | C | rs7106789 | 22633400 | 4.36E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NELL1 |
| 11 | 76436948 | rs4944120 | A | G | rs4944120 | 22633400 | 6.97E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 11 | 76439068 | rs11236909 | A | G | rs11236909 | 22633400 | 6.11E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | NA |
| 11 | 98988308 | rs4753939 | A | G | rs4753939 | 22633400 | 1.05E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | CNTN5 |
| 11 | 100740194 | rs10488786 | G | A | rs10488786 | 22633400 | 8.70E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | ARHGAP42 |
| 11 | 117432779 | rs17509752 | C | T | rs17509752 | 22633400 | 7.35E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | DSCAML1 |
| 11 | 117436936 | rs1893899 | G | T | rs1893899 | 22633400 | 5.42E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | DSCAML1 |
| 11 | 117475233 | rs680730 | C | T | rs680730 | 22633400 | 2.45E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | DSCAML1 |
| 11 | 123920645 | rs4936891 | G | C | rs4936891 | 22633400 | 8.62E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 11 | 125165779 | rs10893363 | A | G | rs10893363 | 22633400 | 7.16E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | PKNOX2 |
| 11 | 131371019 | rs433406 | A | G | rs433406 | 22633400 | 3.36E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NTM |
| 11 | 131371202 | rs433443 | G | A | rs433443 | 22633400 | 2.87E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NTM |
| 12 | 3814238 | rs10848911 | G | A | rs10848911 | 19478329 | 4.00E-06 | azoospermia | NA | NA | 52 oligozoospermic European ancestry males; 40 non-obstructive azoospermic European ancestry males; 80 European ancestry male controls | European(172) | ALL(172) | EUR(172) | ALL(172) | Male infertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | NA | G | EFCAB4B |
| 12 | 20521654 | rs10841496 | C | A | rs10841496 | 19478329 | 5.00E-07 | azoospermia | NA | NA | 52 oligozoospermic European ancestry males; 40 non-obstructive azoospermic European ancestry males; 80 European ancestry male controls | European(172) | ALL(172) | EUR(172) | ALL(172) | Male infertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | NA | C | PDE3A |
| 12 | 43615881 | rs1808120 | A | G | rs1808120 | 22633400 | 7.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 12 | 43644153 | rs1514673 | C | T | rs1514673 | 22633400 | 7.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G,A | NA |
| 12 | 43648823 | rs12049958 | T | G | rs12049958 | 22633400 | 4.88E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 12 | 70392585 | rs1152948 | C | T | rs1152948 | 22633400 | 1.24E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 13 | 43480001 | rs1535900 | G | A | rs1535900 | 22633400 | 3.76E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | EPSTI1 |
| 13 | 43480205 | rs12870438 | G | A | rs12870438 | 22633400 | 2.07E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | EPSTI1 |
| 13 | 67889386 | rs2991396 | G | A | rs2991396 | 22633400 | 4.43E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 13 | 67895522 | rs3013576 | C | T | rs3013576 | 22633400 | 6.13E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 13 | 68449856 | rs4884747 | G | C | rs4884747 | 22633400 | 7.89E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 14 | 58070892 | rs1745689 | T | C | rs1745689 | 22633400 | 9.66E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | SLC35F4 |
| 14 | 73150701 | rs10129954 | C | T | rs10129954 | 22633400 | 3.86E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | DPF3 |
| 15 | 50717068 | rs7174015 | G | A | rs7174015 | 22633400 | 3.57E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | USP8 |
| 18 | 35209656 | rs17570458 | G | C | rs17570458 | 22633400 | 7.96E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 18 | 35717578 | rs1484095 | A | G | rs1484095 | 22633400 | 5.37E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 18 | 39432678 | rs768343 | C | T | rs768343 | 22633400 | 6.60E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | NA |
| 18 | 39437187 | rs9944879 | C | T | rs9944879 | 22633400 | 8.71E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 18 | 39442352 | rs9304257 | A | G | rs9304257 | 22633400 | 8.71E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 18 | 39448075 | rs987379 | T | G | rs987379 | 22633400 | 8.71E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | C | NA |
| 20 | 15323282 | rs2423942 | A | G | rs2423942 | 22633400 | 9.26E-06 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | MACROD2 |
| 20 | 15331007 | rs2058828 | A | G | rs2058828 | 22633400 | 1.04E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | MACROD2 |
| 20 | 15381648 | rs6079801 | G | A | rs6079801 | 22633400 | 7.29E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | A | MACROD2 |
| 20 | 15382355 | rs6079802 | T | C | rs6079802 | 22633400 | 2.98E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | MACROD2 |
| 20 | 50559652 | rs6068020 | T | C | rs6068020 | 19478329 | 5.00E-07 | azoospermia | NA | NA | 52 oligozoospermic European ancestry males; 40 non-obstructive azoospermic European ancestry males; 80 European ancestry male controls | European(172) | ALL(172) | EUR(172) | ALL(172) | Male infertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | NA | T | NA |
| 21 | 21672002 | rs1487933 | G | C | rs1487933 | 22633400 | 5.18E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | G | NA |
| 22 | 25219930 | rs2330929 | T | C | rs2330929 | 22633400 | 7.91E-05 | NA | NA | NA | 269 Hutterite men | Hutterite(269) | ALL(269) | EUR(269) | ALL(269) | Male fertility | HPOID:0003251 | Male infertility | DOID:12336 | male infertility | D007248 | Infertility, Male | NA | NA | Infertility, Male | NA | Research Support, N.I.H., Extramural | T | SGSM1 |
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:11) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0021364 | arsenic trioxide | C006632 | 1327-53-3 | infertility, male | MESH:D007248 | marker/mechanism | 18630931 | ||
| C0021364 | busulfan | D002066 | 55-98-1 | infertility, male | MESH:D007248 | marker/mechanism | 22082982 | ||
| C0021364 | cyclophosphamide | D003520 | 50-18-0 | infertility, male | MESH:D007248 | marker/mechanism | 16517039 | ||
| C0021364 | decitabine | C014347 | 2353-33-5 | infertility, male | MESH:D007248 | marker/mechanism | 17581917 | ||
| C0021364 | cisplatin | D002945 | 15663-27-1 | infertility, male | MESH:D007248 | marker/mechanism | 24704392 | ||
| C0021364 | diethylstilbestrol | D004054 | 56-53-1 | infertility, male | MESH:D007248 | marker/mechanism | 19729556 | ||
| C0021364 | flutamide | D005485 | 13311-84-7 | infertility, male | MESH:D007248 | therapeutic | 20584762 | ||
| C0021364 | miglustat | C059896 | - | infertility, male | MESH:D007248 | marker/mechanism | 17067996 | ||
| C0021364 | nitric oxide | D009569 | 10102-43-9 | infertility, male | MESH:D007248 | marker/mechanism | 18572859 | ||
| C0021364 | theophylline | D013806 | 58-55-9 | infertility, male | MESH:D007248 | marker/mechanism | 16988215 | ||
| C0021364 | vitamin e | D014810 | 1406-18-4 | infertility, male | MESH:D007248 | therapeutic | 11738524 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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