Spermatogenic Failure, Nonobstructive, Y-Linked
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Azoospermia
|
0.140 |
GeneticVariation
|
disease |
LHGDN |
Study of azoospermia factor-a deletion caused by homologous recombination between the human endogenous retroviral elements and population-specific alleles in Japanese infertile males.
|
17624343 |
2008 |
Azoospermia
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
In addition, some infrequent mutations have been identified in the ubiquitin-specific protease 9, Y-linked (USP9Y) and the synaptonemal complex protein 3 (SYCP3) gene that cause azoospermia.
|
16227348 |
2005 |
Azoospermia
|
0.140 |
Biomarker
|
disease |
BEFREE |
The association of this large deletion with normal fertility shows that USP9Y, hitherto considered a candidate gene for infertility and azoospermia, does not have a key role in male reproduction.
|
19246359 |
2009 |
Azoospermia
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
On the contrary, the phenotype of patients with deletion of both USP9Y and DBY seem to be invariably azoospermia with a testicular histology of Sertoli cell-only.
|
11097428 |
2000 |
Azoospermia
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
Oligospermia
|
0.130 |
Biomarker
|
disease |
HPO |
|
|
|
Oligospermia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia and azoospermia.
|
19246359 |
2009 |
Oligospermia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
While deletions or even smaller mutations in USP9Y seem to be associated with a testicular phenotype of severe hypospermatogenesis, patients with deletions of DBY may present both Sertoli cell-only syndrome and severe hypospermatogenesis.
|
11097428 |
2000 |
Oligospermia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
One of these two patients had DFFRY deletion and the other had DBY deletion; their testicular phenotypes were Sertoli cell-only syndrome and hypospermatogenesis, respectively.
|
11695273 |
2001 |
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Non-obstructive azoospermia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Malignant neoplasm of prostate
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
USP9Y-TTTY15 expression is neither higher in cancer than adjacent normal tissues, nor correlated with features of advanced prostate cancer.
|
25188740 |
2014 |
Malignant neoplasm of prostate
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Real-time quantitative polymerase chain reaction was performed to evaluate the expression of TTTY15-USP9Y and the prostate cancer-specific antigen (PSA) level.
|
26008593 |
2015 |
Prostate carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Real-time quantitative polymerase chain reaction was performed to evaluate the expression of TTTY15-USP9Y and the prostate cancer-specific antigen (PSA) level.
|
26008593 |
2015 |
Prostate carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
USP9Y-TTTY15 expression is neither higher in cancer than adjacent normal tissues, nor correlated with features of advanced prostate cancer.
|
25188740 |
2014 |
Coronary Arteriosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The TBL1Y(A) USP9Y(A) haplotype of the Y chromosome, present only in black people of African origin, attributes a favorable lipoprotein pattern, likely to contribute to their reduced susceptibility to coronary heart disease.
|
18511697 |
2008 |
Coronary heart disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The TBL1Y(A) USP9Y(A) haplotype of the Y chromosome, present only in black people of African origin, attributes a favorable lipoprotein pattern, likely to contribute to their reduced susceptibility to coronary heart disease.
|
18511697 |
2008 |
Leukemia, Myelocytic, Acute
|
0.010 |
Biomarker
|
disease |
BEFREE |
The DFFRY-derived peptide was recognized by an HLA-A1 restricted CTL clone, generated during graft rejection from a female patient with acute myeloid leukemia who rejected HLA-phenotypically identical bone marrow from her father.
|
10648428 |
2000 |
Multiple Myeloma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To investigate lineage-specific chimerism of plasma cells after allogeneic transplantation by real-time PCR based on bi-allelic sequence polymorphism or, in case of female-to-male transplantation, on the detection of the DFFRY gene and to determine its value to quantify minimal residual disease in myeloma patients.
|
16647575 |
2006 |
Congenital absence of germinal epithelium of testes
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
One of these two patients had DFFRY deletion and the other had DBY deletion; their testicular phenotypes were Sertoli cell-only syndrome and hypospermatogenesis, respectively.
|
11695273 |
2001 |
Coronary Artery Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The TBL1Y(A) USP9Y(A) haplotype of the Y chromosome, present only in black people of African origin, attributes a favorable lipoprotein pattern, likely to contribute to their reduced susceptibility to coronary heart disease.
|
18511697 |
2008 |
Partial chromosome Y deletion
|
0.300 |
ChromosomalRearrangement
|
phenotype |
ORPHANET |
Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?
|
22537385 |
2012 |
Partial chromosome Y deletion
|
0.300 |
ChromosomalRearrangement
|
phenotype |
ORPHANET |
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.
|
10581029 |
1999 |
Partial chromosome Y deletion
|
0.300 |
ChromosomalRearrangement
|
phenotype |
ORPHANET |
Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?
|
20671934 |
2010 |