DAZ3, deleted in azoospermia 3, 57054

N. diseases: 10; 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 A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. 14639527 2004
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		0.300 GeneticVariation phenotype ORPHANET A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. 14639527 2004
CUI: C1839071
Disease: Spermatogenic Failure, Nonobstructive, Y-Linked
Spermatogenic Failure, Nonobstructive, Y-Linked 		0.300 Biomarker disease CTD_human
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.110 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 		0.110 GeneticVariation phenotype BEFREE All case-control studies related to partial DAZ1/2 and DAZ3/4 deletions and male infertility risk were included in our study. 26232607 2015
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.110 Biomarker 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: C0004509
Disease: Azoospermia
Azoospermia 		0.110 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.110 Biomarker phenotype HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.110 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.100 Biomarker disease HPO
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.010 GeneticVariation disease BEFREE Three markers showed evidence of deletions, sY1291, indicative of 'gr/gr' (eight out of 271; 2.9%), Y-DAZ3 contained within 'gr/gr' (21 out of 271; 7.7%) and a single deletion of the marker G66152 was identified in one TGCT case. 17211466 2007