Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.140 Biomarker phenotype HPO
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: 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: 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: 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: 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: 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: 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: 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: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.010 GeneticVariation group LHGDN Y chromosome instability in lymphoproliferative disorders. 12650910 2003
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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We tested transcripts of 14 Y chromosomal genes by RT-PCR (TSPY, DAZ, BPY1 and BPY2, PRY, XKRY, CDY1 and CDY2, TTY1 and TTY2, PRKY, RBMY1, DBY and USP9Y), and only transcript of TSPY was detectable in the tumor tissue. 16784771 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
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 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: 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