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: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.020 Biomarker disease BEFREE DAZ is a multi-copy AZFc gene (DAZ1-DAZ4) implicated in spermatogenesis. 21852246 2011
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		0.300 GeneticVariation phenotype ORPHANET Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? 20671934 2010
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		0.300 GeneticVariation phenotype ORPHANET Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? 20671934 2010
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucleotide variants (SNV) in DAZ and CDY1 genes in patients with azoospermia (n = 44), cryptozoospermia (n = 51) or severe oligozoospermia (n = 92). 18326516 2008
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucleotide variants (SNV) in DAZ and CDY1 genes in patients with azoospermia (n = 44), cryptozoospermia (n = 51) or severe oligozoospermia (n = 92). 18326516 2008
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.020 Biomarker disease BEFREE Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. 19030103 2008
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.020 Biomarker disease BEFREE Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. 18545811 2008
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: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 AlteredExpression disease BEFREE Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1, DAZ and TSPY gene expression, however, we detected very low expression of DDX3Y transcript. 17881721 2007
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE Copy deletion screening of DAZ gene family on the Y chromosome in 485 patients with idiopathic azoospermia or oligozoospermia and 236 fertile men revealed that the prevalence of deletion patterns of the entire DAZ gene and DAZ1/DAZ2 gene were significantly higher in the patients than in fertile men. 16580401 2006
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE Copy deletion screening of DAZ gene family on the Y chromosome in 485 patients with idiopathic azoospermia or oligozoospermia and 236 fertile men revealed that the prevalence of deletion patterns of the entire DAZ gene and DAZ1/DAZ2 gene were significantly higher in the patients than in fertile men. 16580401 2006
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE We conclude that partial deletions of the DAZ genes are associated with oligozoospermia but not with azoospermia; however, an increased number of DAZ genes does not seem to be a statistically significant risk factor for spermatogenic failure. 16275261 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE Together with published data, our analysis of DAZ gene copy suggested that the contribution of the different deletions to male infertility varies: only partial AZFc deletions removing DAZ1/DAZ2 seem to be associated with spermatogenic impairment, whereas those removing DAZ3/DAZ4 may have no or little effect on fertility. 15744033 2005
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE We conclude that partial deletions of the DAZ genes are associated with oligozoospermia but not with azoospermia; however, an increased number of DAZ genes does not seem to be a statistically significant risk factor for spermatogenic failure. 16275261 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE Deletions of the AZFc region in Yq11.2, which include the DAZ gene family, are responsible for most cases of male infertility and were associated with severe oligozoospermia and also with a variable testicular pathology. 15347736 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype LHGDN Our findings suggest that the loss of only some copies of DAZ is sufficient to lead to severe male infertility, but it is not a frequent finding in cryptorchid men. 15066457 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype BEFREE Our findings suggest that the loss of only some copies of DAZ is sufficient to lead to severe male infertility, but it is not a frequent finding in cryptorchid men. 15066457 2004
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 AlteredExpression disease BEFREE The transcript ratios for BOULE, DAZL, and DAZ were significantly decreased in tissues with spermatogenic failure (hypospermatogenesis, maturation arrest, and Sertoli cell-only). 15066460 2004
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE To uncover the functional contribution of DAZ to human spermatogenesis, a DAZ gene copy-specific deletion analysis was previously established and showed that DAZ1/DAZ2 deletions associate with oligozoospermia. 15347736 2004
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: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 GeneticVariation disease BEFREE AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. 15347736 2004
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		0.300 GeneticVariation phenotype ORPHANET High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. 11870237 2002
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		0.300 GeneticVariation phenotype ORPHANET High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. 11870237 2002
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE Deletions in the DAZ (deleted in azoospermia) loci sgamma254 and sgamma255 were found in three patients with idiopathic azoospermia, resulting in an estimated frequency of deletions of 10.7% in idiopathic azoospermia men. 12085101 2002
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease BEFREE Deletion of RBM and DAZ in azoospermia: evaluation by PRINS. 11807882 2002