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
Spermatogenic Failure, Nonobstructive, Y-Linked
0.300 Biomarker disease CTD_human
Male sterility due to Y-chromosome deletions
0.300 ChromosomalRearrangement disease ORPHANET
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 All patients with azoospermia factor (AZF) -a deletions had an azoospermia and breakpoints in the ID2 region of HERV15qy. 17624343 2008
CUI: C0021364
Disease: Male infertility
Male infertility
0.140 GeneticVariation disease LHGDN Study examined 26 family members of 13 patients with male infertility who showed deletions in the AZF region. 18752188 2008
CUI: C0021364
Disease: Male infertility
Male infertility
0.140 GeneticVariation disease LHGDN The AZFc variation was detected in five cases of male infertility. 17762975 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 2007
CUI: C0021364
Disease: Male infertility
Male infertility
0.140 Biomarker disease LHGDN Findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility. 15696490 2005
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 2001
CUI: C0021364
Disease: Male infertility
Male infertility
0.140 GeneticVariation disease 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 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility
0.140 Biomarker disease HPO
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.120 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
0.120 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 2001
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.120 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 2016
CUI: C0600139
Disease: Prostate carcinoma
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 2016
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 2015
CUI: C0600139
Disease: Prostate carcinoma
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 2015
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: 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: 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