FANCM, FA complementation group M, 57697

N. diseases: 147; N. variants: 11
Disease: Congenital absence of germinal epithelium of testes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.010 GeneticVariation disease BEFREE In the individual with SCOS carrying bi-allelic FANCM LoF variants, none or only faint expression was detected in the Sertoli cells. 30075111 2018