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 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 Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance? 22537385 2012
CUI: C1507149
Disease: Partial chromosome Y deletion
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
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: C1507149
Disease: Partial chromosome Y deletion
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
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: C1839071
Disease: Spermatogenic Failure, Nonobstructive, Y-Linked
Spermatogenic Failure, Nonobstructive, Y-Linked 		0.300 Biomarker disease CTD_human
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 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: 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: 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: 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: 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 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: 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: C0021364
Disease: Male infertility
Male infertility 		0.140 Biomarker phenotype HPO
CUI: C0028960
Disease: Oligospermia
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
CUI: C0028960
Disease: Oligospermia
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
CUI: C0028960
Disease: Oligospermia
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
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.130 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: 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