DAZ1, deleted in azoospermia 1, 1617

N. diseases: 23; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839071
Disease: Spermatogenic Failure, Nonobstructive, Y-Linked
Spermatogenic Failure, Nonobstructive, Y-Linked 		0.300 Biomarker disease CTD_human
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 Biomarker disease HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.110 Biomarker disease HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype BEFREE The DAZ (Deleted in AZoospermia) and DAZLA (DAZ-like autosomal) genes may be determinants of male infertility. 8968756 1996
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype BEFREE The presence of deletions that do not overlap with the DAZ region suggests that genes other than the DAZ gene may also be implicated in the pathogenesis of some subsets of male infertility. 8636331 1996
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease BEFREE These data, although highly suggestive, do not constitute formal proof that DAZ actually plays a role in azoospermia, as no small intragenic deletions, rearrangements or point mutations in the gene have been found. 9239708 1997
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE The DAZLA (DAZ Like Autosomal) gene on human chromosome 3 shares a high degree of homology with the DAZ (Deleted in AZoospermia) gene family on the Y chromosome, a gene family frequently deleted in males with azoospermia or severe oligospermia. 9294855 1997
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease BEFREE Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. 9091344 1997
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE The DAZLA (DAZ Like Autosomal) gene on human chromosome 3 shares a high degree of homology with the DAZ (Deleted in AZoospermia) gene family on the Y chromosome, a gene family frequently deleted in males with azoospermia or severe oligospermia. 9294855 1997
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. 9391878 1997
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. 9091344 1997
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 GeneticVariation disease BEFREE We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost no germ cells. 9880685 1998
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.020 GeneticVariation disease BEFREE We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost no germ cells. 9880685 1998
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.010 GeneticVariation disease BEFREE We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost no germ cells. 9880685 1998
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease BEFREE DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia. 10360905 1999
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE Deletions of the DAZ (deleted in azoospermia) gene family are frequently responsible for male infertility and are generally assessed by analyses of genomic DNA extracted from peripheral leukocytes. 10469697 1999
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia. 10360905 1999
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE In a subset of infertile men, a spectrum of spermatogenic defects ranging from a complete absence of germ cells (sertoli cell only) to oligozoospermia is associated with microdeletions of the DAZ (deleted in azoospermia) gene cluster on human distal Yq. 10393944 1999
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE Deletions in the AZFc region involving the DAZ gene were the most frequent finding and they were more often observed in severe hypospermatogenesis than in Sertoli cell-only syndrome, suggesting that deletions of this region are not sufficient to cause complete loss of the spermatogenic line. 10402373 1999
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 Biomarker disease BEFREE Patients with Sertoli cell-only syndrome had additional microdeletions in regions distal to DAZ (Deleted in Azoospermia), although DAZ deletion was observed in seven of the eight affected patients. 10439009 1999
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 Biomarker disease BEFREE Deletions in the AZFc region involving the DAZ gene were the most frequent finding and they were more often observed in severe hypospermatogenesis than in Sertoli cell-only syndrome, suggesting that deletions of this region are not sufficient to cause complete loss of the spermatogenic line. 10402373 1999