FANCM, FA complementation group M, 57697

N. diseases: 147; N. variants: 11
Disease: Male infertility ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE A homozygous PV in FANCM (c.1946_1958del, p.P648Lfs*16) was found cosegregating with male infertility. 29895858 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility. 30158692 2019