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: 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: 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: 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 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 BEFREE A total of 146 cryptorchid and 140 infertile patients without a history of cryptorchidism were screened with a sequence tagged site plus/minus method and further confirmed and characterized by CDY1/DAZ gene dosage and copy analysis. 17609244 2007
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 GeneticVariation disease BEFREE The frequency of complete AZF deletions was similar in idiopathic (13.3%) and cryptorchid men (11.6%), but partial DAZ deletions were found only in infertile subjects without cryptorchidism (7.1%). 15066457 2004
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 GeneticVariation disease BEFREE Polymerase chain reaction (PCR) amplification of 51 DNA loci encompassing all of the regions for azoospermia factor (AZF) of the Y chromosome, including the deleted in azoospermia (DAZ) and ribonucleic acid-binding motif (RBM) genes, were examined for microdeletions in 10 PWS males with cryptorchidism and 20 healthy control male subjects. 11869370 2002
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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 Biomarker disease HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.110 GeneticVariation disease BEFREE DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations. 23696539 2013
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: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 GeneticVariation disease BEFREE Partial AZF deletions including single AZF Y genes can cause the same testicular pathology as the corresponding complete deletion (e.g., DDX3Y gene deletions in AZFa), or might not be associated with male infertility at all (e.g., some BPY2, CDY1, DAZ gene deletions in AZFc). 22992914 2013