MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: Combined Oxidative Phosphorylation Deficiency 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119478059
rs119478059
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
CUI: C2673642
Disease:
Combined Oxidative Phosphorylation Deficiency 5 		0.800 GeneticVariation UNIPROT
dbSNP: rs119478059
rs119478059
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
CUI: C2673642
Disease:
Combined Oxidative Phosphorylation Deficiency 5 		A 0.800 CausalMutation CLINVAR