MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: 46, XX Gonadal Sex Reversal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		0.100 CausalMutation disease CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018