MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: Gonadal Dysgenesis, 46,XX ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018