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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 | In contrast to previously reported high frequency of SYCP3 mutations in patients with azoospermia, only polymorphisms are found in the present study 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. | 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:[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. Title:|Association:Not Found|Conclusion:Not Found | Human | USP9Y | 8287 | ubiquitin specific peptidase 9, Y-linked | Nonobstructive oligo- or azoospermia 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 All patients with azoospermia factor (AZF)-a deletions had an azoospermia and breakpoints in the ID2 region of HERV15qy | 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 | 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 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 | 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 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 | HLA-DQB1 | 3119 | | 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 | 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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