FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Gonadal Dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.010 GeneticVariation disease BEFREE A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. 30032139 2018