ATP5F1A, ATP synthase F1 subunit alpha, 498

N. diseases: 84; N. variants: 3
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted exome sequencing of suspected mitochondrial disorders. 23596069 2013
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		0.700 Biomarker disease GENOMICS_ENGLAND A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. 23599390 2013
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		0.700 GeneticVariation disease UNIPROT Targeted exome sequencing of suspected mitochondrial disorders. 23596069 2013
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		0.700 CausalMutation disease CLINVAR
CUI: C4015062
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 		0.700 Biomarker disease CTD_human