MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: Combined Oxidative Phosphorylation Deficiency 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 GermlineCausalMutation disease ORPHANET Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease GENOMICS_ENGLAND Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 GeneticVariation disease UNIPROT Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. 17873122 2007
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 Biomarker disease CTD_human
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		0.700 CausalMutation disease CLINVAR