Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004509
Disease: Azoospermia
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
CUI: C0004509
Disease: Azoospermia
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
CUI: C0004509
Disease: Azoospermia
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
CUI: C0004509
Disease: Azoospermia
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
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.140 Biomarker disease HPO
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
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
CUI: C0010054
Disease: Coronary Arteriosclerosis
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
CUI: C1956346
Disease: Coronary Artery Disease
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
CUI: C0010068
Disease: Coronary heart disease
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
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 GeneticVariation group LHGDN Y chromosome instability in lymphoproliferative disorders. 12650910 2003
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 GeneticVariation phenotype BEFREE Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility. 11294825 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 Biomarker phenotype LHGDN [A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients]. 15696490 2005
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 GeneticVariation phenotype LHGDN SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach. 17762975 2007
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 GeneticVariation phenotype LHGDN Tracking microdeletions of the AZF region in a patrilineal line of infertile men. 18752188 2008
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		0.300 ChromosomalRearrangement phenotype ORPHANET Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance? 22537385 2012
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		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
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		0.300 ChromosomalRearrangement phenotype ORPHANET An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. 10581029 1999
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE USP9Y-TTTY15 expression is neither higher in cancer than adjacent normal tissues, nor correlated with features of advanced prostate cancer. 25188740 2014
CUI: C0026764
Disease: Multiple Myeloma
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
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		0.010 Biomarker phenotype 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