Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP
0.330 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
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP
0.330 GeneticVariation disease BEFREE The aim of this study was to investigate a group of patients with POI for possible PSMC3IP mutations. 24481226 2014
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP
0.330 Biomarker disease GENOMICS_ENGLAND The aim of this study was to investigate a group of patients with POI for possible PSMC3IP mutations. 24481226 2014
Entrez Id: 29893
Gene Symbol: PSMC3IP
PSMC3IP
0.330 Biomarker disease BEFREE By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. 21963259 2011