Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515421
rs397515421
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C3554067
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.800 GeneticVariation UNIPROT Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? 26238252 2016
dbSNP: rs397515421
rs397515421
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C3554067
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.800 GeneticVariation UNIPROT RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. 25604853 2015
dbSNP: rs397515421
rs397515421
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C3554067
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.800 GeneticVariation UNIPROT An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098 2012
dbSNP: rs397515421
rs397515421
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C3554067
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.800 GeneticVariation UNIPROT Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. 23022099 2012
dbSNP: rs397515421
rs397515421
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
CUI: C3554067
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		T 0.800 CausalMutation CLINVAR