Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80712
Gene Symbol: ESX1
ESX1
0.010 AlteredExpression disease BEFREE This study applied cfs-mRNA of ESX1, ZMYND15 and its target haploid genes (TNP1 and PRM1) to identify the presence of spermatozoa in men with azoospermia. 31793700 2020
Entrez Id: 406903
Gene Symbol: MIR10B
MIR10B
0.010 Biomarker disease BEFREE In particular, we identified a combination of two miRNAs (miR-10b-3p and miR-34b-5p) that could serve as a predictive biomarker of azoospermia. 31134916 2020
Entrez Id: 5619
Gene Symbol: PRM1
PRM1
0.010 Biomarker disease BEFREE This study applied cfs-mRNA of ESX1, ZMYND15 and its target haploid genes (TNP1 and PRM1) to identify the presence of spermatozoa in men with azoospermia. 31793700 2020
Entrez Id: 407041
Gene Symbol: MIR34B
MIR34B
0.010 Biomarker disease BEFREE In particular, we identified a combination of two miRNAs (miR-10b-3p and miR-34b-5p) that could serve as a predictive biomarker of azoospermia. 31134916 2020
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1
0.010 GeneticVariation disease BEFREE Two variants, c.671A>G (p.(Asn224Ser)) in DMRT1 and c.91C>T (p.(Arg31Cys)) in REC8, have already been described in association with azoospermia. 31479588 2020
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.010 GeneticVariation disease BEFREE This raises an important reproductive counseling issue for clinicians, and fertility specialists should be aware of SETX mutations as a possible diagnosis in young male patients presenting with oligospermia or azoospermia since infertility may presage the later onset of neurological manifestations in some individuals. 30778901 2019
Entrez Id: 4437
Gene Symbol: MSH3
MSH3
0.010 GeneticVariation disease BEFREE The genotype frequency distribution of rs26279 (A>G) in MSH3 was found to be significantly different between IMI and control (p < 0.05), as well as azoospermia. 31342644 2019
Entrez Id: 9271
Gene Symbol: PIWIL1
PIWIL1
0.010 AlteredExpression disease BEFREE Ninety male participants were included in the study, among which 47 were with normozoospermia, 36 with impaired semen characteristics according to the World Health Organization (WHO) manual, 5<sup>th</sup> edition, and 7 with azoospermia serving as negative control for the PIWI-LIKE 1-4 mRNA expression in somatic cells in the ejaculate. 29286006 2019
Entrez Id: 55107
Gene Symbol: ANO1
ANO1
0.010 Biomarker disease BEFREE Consecutive testicular biopsies (N=28) from men with azoospermia were classified by hematoxylin and eosin morphology and stained with a dual SF-1 (Perseus)/DOG1 (Cell Marque) immunohistochemical stain. 31094926 2019
Entrez Id: 11096
Gene Symbol: ADAMTS5
ADAMTS5
0.010 Biomarker disease BEFREE ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia. 29737873 2019
Entrez Id: 9510
Gene Symbol: ADAMTS1
ADAMTS1
0.010 Biomarker disease BEFREE ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia. 29737873 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.010 Biomarker disease BEFREE The aim of this study was to investigate the relationship of the CD133 and CD24 genes with spermatogenesis defects and examine them as a candidate a useful biomarker for azoospermia men. 31054360 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.010 GeneticVariation disease BEFREE A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. 30651829 2019
Entrez Id: 8144
Gene Symbol: CMS1A1
CMS1A1
0.010 Biomarker disease BEFREE Mouse azoospermia models are available in the Mouse Genome Informatics database (MGI: http://www.informatics.jax.org/). 31125047 2019
Entrez Id: 100133941
Gene Symbol: CD24
CD24
0.010 Biomarker disease BEFREE The aim of this study was to investigate the relationship of the CD133 and CD24 genes with spermatogenesis defects and examine them as a candidate a useful biomarker for azoospermia men. 31054360 2019
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
0.010 AlteredExpression disease BEFREE Decreased transferrin and transferrin receptor levels were observed in seminal plasma from idiopathic azoospermia (IA) patients, suggesting disturbed iron metabolism in IA testes. 28762519 2018
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
0.010 Biomarker disease BEFREE Collectively, KLK1 can improve spermatogenesis in azoospermic mice, and KLK1 can promote the proliferation of mouse spermatogonial stem cells via activating ERK1/2 and cell cycle proteins Cyclin A and Cyclin E. This study could offer novel approach and provide new targets for the treatment of azoospermia. 30171922 2018
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1
0.010 GeneticVariation disease BEFREE Physicians should be aware of genetic variants in male infertility patients and DNAH1 mutations should be considered in patients with asthenospermia or azoospermia. 30544445 2018
Entrez Id: 286319
Gene Symbol: TUSC1
TUSC1
0.010 GeneticVariation disease BEFREE When we assessed the relationship between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility traits, we found that rs12348 in TUSC1 was significantly associated with azoospermia and oligozoospermia, but rs2772579 in IZUMO3 was not associated with male infertility. 28975488 2018
Entrez Id: 3816
Gene Symbol: KLK1
KLK1
0.010 Biomarker disease BEFREE Collectively, KLK1 can improve spermatogenesis in azoospermic mice, and KLK1 can promote the proliferation of mouse spermatogonial stem cells via activating ERK1/2 and cell cycle proteins Cyclin A and Cyclin E. This study could offer novel approach and provide new targets for the treatment of azoospermia. 30171922 2018
Entrez Id: 100653377
Gene Symbol: SPGF2
SPGF2
0.010 GeneticVariation disease BEFREE For the SgF men, between baseline sampling and follow up, the median sperm concentration decreased from 1.9 to 0.6 mill/ml and total sperm count from 7.7 to 2.0 million (P = 0.019 and 0.012, respectively), and 10% developed azoospermia. 30247578 2018
Entrez Id: 9242
Gene Symbol: MSC
MSC
0.010 Biomarker disease BEFREE Right testis of hamsters was intratubular injected with AT-MSCs via efferent duct 35 days after induction of azoospermia and was used as cell therapy group. 30140403 2018
Entrez Id: 100130988
Gene Symbol: SPATA48
SPATA48
0.010 AlteredExpression disease BEFREE In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis. 29700843 2018
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.010 AlteredExpression disease BEFREE Serum leptin levels are augmented in obese infertile men and in men with azoospermia. 29855380 2018
Entrez Id: 407035
Gene Symbol: MIR31
MIR31
0.010 Biomarker disease BEFREE We focused on the miRNAs that were differentially expressed between azoospermia as a result of an obstruction in the genital tract (i.e. having conserved spermatogenesis) and azoospermia caused by spermatogenic failure, and described, in a miRNA validation stage of the study, the expression values of one miRNA (miR-31-5p) in exosomes from semen as a predictive biomarker test for the origin of azoospermia with high sensitivity and specificity (>90%). 29635626 2018