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Genes (36)
Species: human : 36 | |
| Human | TGIF2LY | 90655 | TGFB-induced factor homeobox 2-like, Y-linked | Association of TGIFLX/Y mRNA expression with azoospermia in infertile men.( | | Human | TGIF2LX | 90316 | TGFB-induced factor homeobox 2-like, X-linked | Association of TGIFLX/Y mRNA expression with azoospermia in infertile men.( | | Human | USP26 | 83844 | ubiquitin specific peptidase 26 | Mutations of the USP26 gene do not appear to be a common cause of idiopathic azoospermia or severe oligozoospermia | | Human | BOLL | 66037 | bol, boule-like (Drosophila) | BOULE coding sequence mutations are not an important factor in the aetiology of azoospermia | | Human | SYCP3 | 50511 | synaptonemal complex protein 3 | Title:Azoospermia in patients heterozygous for a mutation in SYCP3.|Association:Y|Conclusion:We suggest that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein via dominant negative interference. In contrast to previously reported high frequency of SYCP3 mutations in patients with azoospermia, only polymorphisms are found in the present study | | Human | DDX25 | 29118 | DEAD (Asp-Glu-Ala-Asp) box helicase 25 | SNP IVS6+55G-->T and c.852C-->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia | | Human | NCOA1 | 8648 | nuclear receptor coactivator 1 | Expression of androgen receptor co-regulators in the testes of men with azoospermia | | Human | FKBP6 | 8468 | FK506 binding protein 6, 36kDa | Title:|Association:Not Found|Conclusion:Not Found Title:[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia]|Association:Y|Conclusion:278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population. | | Human | USP9Y | 8287 | ubiquitin specific peptidase 9, Y-linked | All patients with azoospermia factor (AZF)-a deletions had an azoospermia and breakpoints in the ID2 region of HERV15qy Our findings strongly support that the massive deletions in the AZFb or AZFb+c regions are important genetic causes of Sertoli cell only and/or maturation arrest resulting in azoospermia Nonobstructive oligo- or azoospermia | | Human | ZNF230 | 7773 | zinc finger protein 230 | Title:Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia.|Association:Not Found|Conclusion:ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level. | | Human | XRCC1 | 7515 | X-ray repair complementing defective repair in Chinese hamster cells 1 | This study provided the first evidence that the XPD and XRCC1 polymorphisms contributed to the risk of developing idiopathic azoospermia in a selected Chinese population In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia | | Human | STK11 | 6794 | serine/threonine kinase 11 | Azospermia/oligospermia (present at diagnosis) | | Human | SRY | 6736 | sex determining region Y | analyse the presence of DAZ, RBMY1, USP9Y, protamine-2, SRY and actin messenger RNA (mRNA) in testicular cells of men suffering from idiopathic azoospermia | | Human | VPS52 | 6293 | vacuolar protein sorting 52 homolog (S. cerevisiae) | Title:Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604|Association:Not Found|Conclusion:Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia. | | Human | BRD2 | 6046 | bromodomain containing 2 | Title:Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604|Association:Not Found|Conclusion:Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia. | | Human | RBMY1A1 | 5940 | RNA binding motif protein, Y-linked, family 1, member A1 | analyse the presence of DAZ, RBMY1, USP9Y, protamine-2, SRY and actin messenger RNA (mRNA) in testicular cells of men suffering from idiopathic azoospermia (RBMY1) | | Human | KITLG | 4254 | KIT ligand | stem cell factor and clusterin may have roles in azoospermia | | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Azospermia/oligospermia (present at diagnosis) | | Human | INHBA | 3624 | inhibin, beta A | Seminal inhibin B levels were higher in normal men than in men after vasectomy and in men with azoospermia | | Human | HLA-DRB1 | 3123 | | Title:Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604|Association:Y|Conclusion:Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia. Title:Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Ychromosome microdeletion and spermatogenesis|Association:Not Found|Conclusion:While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermatogenic impairment. | | Human | HLA-DQB1 | 3119 | | Title:Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Ychromosome microdeletion and spermatogenesis|Association:Not Found|Conclusion:While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermatogenic impairment. Title:Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604|Association:Y|Conclusion:Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia. | | Human | HEXA | 3073 | hexosaminidase A (alpha polypeptide) | isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma from patients with secretory azoospermia is significantly different from controls, but this difference does not represent a useful marker of secretory azoospermia | | Human | GSTT1 | 2952 | glutathione S-transferase theta 1 | GSTT1 null genotype is a predisposing risk factor for sporadic idiopathic azoospermia or oligospermia in northwestern China | | Human | FSHR | 2492 | follicle stimulating hormone receptor | Title:Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men.|Association:Not Found|Conclusion:We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in normal and azoospermic men. The A-Ala-Ser and the G-Thr-Asn allele might represent genetic factors contributing to phenotypic expression of severe spermatogenetic impairment. | | Human | FSHB | 2488 | follicle stimulating hormone, beta polypeptide | FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia |
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