Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.110 GeneticVariation group BEFREE Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathy. 25901006 2015
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.110 Biomarker group HPO