NUP107, nucleoporin 107, 57122

N. diseases: 98; N. variants: 8
Disease: Pure Gonadal Dysgenesis, 46, XX ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		0.300 GermlineCausalMutation disease ORPHANET A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 26485283 2015