PSMC3IP, PSMC3 interacting protein, 29893

N. diseases: 53; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 GeneticVariation disease BEFREE The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by POI (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. 29240891 2018
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.020 Biomarker disease BEFREE To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest. 18941885 2009