Gene: PDHX ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8050
Gene Symbol: PDHX
PDHX 		0.030 GeneticVariation disease BEFREE Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in two genes associated with Leigh syndrome; a reported pathogenic variant in PDHX (NP_003468.2:p.(Arg446*)), and an uncharacterized variant in complex I (CI) assembly factor TIMMDC1 (NP_057673.2:p.(Arg225*)). 30981218 2019
Entrez Id: 8050
Gene Symbol: PDHX
PDHX 		0.030 GeneticVariation disease BEFREE Leigh's disease due to a new mutation in the PDHX gene. 16566017 2006
Entrez Id: 8050
Gene Symbol: PDHX
PDHX 		0.030 GeneticVariation disease BEFREE Mutations in the E3-binding protein component of pyruvate dehydrogenase complex have been demonstrated in a few cases of Leigh syndrome. 12208141 2002