rs752513525, NDUFA13

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
0.700 CausalMutation CLINVAR Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006 2015
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 CausalMutation CLINVAR Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006 2015
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
CUI: C4748827
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
0.700 GeneticVariation UNIPROT