Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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