ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 27769300 2016
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GermlineCausalMutation disease ORPHANET ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GeneticVariation disease UNIPROT ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 23849775 2013
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CLINGEN Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs. 21593607 2012
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease CTD_human
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 CausalMutation disease CLINVAR
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809526
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 		0.700 GeneticVariation disease CLINVAR