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: 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: 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: 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 BEFREE From these, sperm from 40 randomly selected men with no DAZ microdeletions in their leukocytes (n = 10 oligozoospermia; n = 10 asthenozoospermia; n = 10 oligoasthenozoospermia; and n = 10 near-azoospermia) were were compared to sperm from men of normal semen quality (n = 10) using combined primed in situ labelling and fluorescent in situ hybridization (PRINS-FISH) technique as well as screening for sex chromosome aneuploidy. 28521575 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 Biomarker phenotype BEFREE High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility. 28521575 2018
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE From these, sperm from 40 randomly selected men with no DAZ microdeletions in their leukocytes (n = 10 oligozoospermia; n = 10 asthenozoospermia; n = 10 oligoasthenozoospermia; and n = 10 near-azoospermia) were were compared to sperm from men of normal semen quality (n = 10) using combined primed in situ labelling and fluorescent in situ hybridization (PRINS-FISH) technique as well as screening for sex chromosome aneuploidy. 28521575 2018
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia. 27739146 2016
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia. 27739146 2016
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE In men with AZFc subdeltions, loss of two DAZ and one CDY1 gene copy made them highly susceptible to azoospermia and severe oligozoospermia with OR of 29.7 and 26, respectively. 26149076 2015
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 GeneticVariation disease BEFREE More interestingly, partial DAZ1/2 deletion was associated with azoospermia (ORs=2.63, 95%CI: 1.19-5.81, I(2)=64.7%) and oligozoospermia (ORs=2.53, 95%CI: 1.40-4.57, I(2)=51.8%), but partial DAZ3/4 deletion was not associated with azoospermia (ORs=0.71, 95%CI: 0.23-2.22, I(2)=71.7%,) and oligozoospermia (ORs=1.21, 95%CI: 0.65-2.24, I(2)=55.5%). 26232607 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE The purpose of this study was to determine the association of AZFc subdeletions (gr/gr, b1/b3 and b2/b3) and deletion of DAZ and CDY1 gene copies with male infertility 26149076 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE In our meta-analysis, partial DAZ1/2 deletion is a risk factor for male infertility and different ethnicities have different influences, whereas partial DAZ3/4 deletion has no effect on fertility but partial DAZ3/4 deletion might have an impact on Non-East Asian male. 26232607 2015
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE In men with AZFc subdeltions, loss of two DAZ and one CDY1 gene copy made them highly susceptible to azoospermia and severe oligozoospermia with OR of 29.7 and 26, respectively. 26149076 2015
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE More interestingly, partial DAZ1/2 deletion was associated with azoospermia (ORs=2.63, 95%CI: 1.19-5.81, I(2)=64.7%) and oligozoospermia (ORs=2.53, 95%CI: 1.40-4.57, I(2)=51.8%), but partial DAZ3/4 deletion was not associated with azoospermia (ORs=0.71, 95%CI: 0.23-2.22, I(2)=71.7%,) and oligozoospermia (ORs=1.21, 95%CI: 0.65-2.24, I(2)=55.5%). 26232607 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE Analysis of DAZ gene copies in Tunisian population, suggested that the simultaneous deletion of DAZ2 and DAZ4 gene copies is associated with male infertility, and that oligospermia seems to be promoted by removing DAZ4 copy. 24878370 2014
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 GeneticVariation disease BEFREE Analysis of DAZ gene copies in Tunisian population, suggested that the simultaneous deletion of DAZ2 and DAZ4 gene copies is associated with male infertility, and that oligospermia seems to be promoted by removing DAZ4 copy. 24878370 2014
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.200 Biomarker disease BEFREE The AZFc(azoospermia factor c)/DAZ (deleted in azoospermia) duplications might underlie the susceptibility of Y-hg K* to spermatogenic impairment. 23696539 2013
CUI: C0021364
Disease: Male infertility
Male infertility 		0.200 GeneticVariation phenotype BEFREE Analysis of DAZ gene copies in AZFc microdeletions suggests that the contribution of the different deletions to male infertility varies. 23512232 2013
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE Transmission of DAZ (Deleted in Azoospermia) microdeletion is one of the major concerns for oligo and severe oligozoospermia patients. 22648284 2012
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.200 Biomarker disease BEFREE Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. 20823911 2011
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: 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