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: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		0.010 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: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		0.010 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE In this context, we investigated the expression of two known cancer testis genes, Aurora kinase C (AURKC) and testis expressed 101 (TEX101), and one new candidate, deleted in azoospermia 1 (DAZ1), in six breast cancer cell lines including two ductal carcinomas, T47D and BT-474, and four adenocarcinomas, MDA-MB-231, MDA-MB-468, MCF7, and SKBR3 as well as 50 breast cancer tumors in comparison to normal mammary epithelial cells using quantitative real-time reverse transcription PCR (RT-PCR). 25994570 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE In this context, we investigated the expression of two known cancer testis genes, Aurora kinase C (AURKC) and testis expressed 101 (TEX101), and one new candidate, deleted in azoospermia 1 (DAZ1), in six breast cancer cell lines including two ductal carcinomas, T47D and BT-474, and four adenocarcinomas, MDA-MB-231, MDA-MB-468, MCF7, and SKBR3 as well as 50 breast cancer tumors in comparison to normal mammary epithelial cells using quantitative real-time reverse transcription PCR (RT-PCR). 25994570 2015
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.010 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE Of the 10 Y chromosome specific genes DAZ gene expression was lacking in all prostate cancer cell lines but after demethylation treatment with 5-azaC DAZ expression was restored. 11743352 2002
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE Of the 10 Y chromosome specific genes DAZ gene expression was lacking in all prostate cancer cell lines but after demethylation treatment with 5-azaC DAZ expression was restored. 11743352 2002
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 GeneticVariation disease BEFREE This procedure could be particularly useful in screening for the DAZ locus in the diagnostic workup of nonobstructive azoospermia and severe oligoasthenoteratozoospermia. 10685522 2000
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 GeneticVariation disease BEFREE Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis. 10202890 1999
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: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.020 GeneticVariation disease BEFREE Accordingly, we quantified the multi-copy DAZ gene, which has variable copy numbers between individuals and plays an important role in spermatogenesis. 23696539 2013
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: 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: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.020 GeneticVariation disease BEFREE Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis. 10202890 1999
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: 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
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.060 Biomarker disease BEFREE A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process. 20823911 2011
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: 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: 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
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype 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