MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
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 		0.400 CausalMutation disease CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018