Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100303755
Gene Symbol: PET117
PET117
0.310 GermlineCausalMutation disease ORPHANET Lentiviral complementation of patient fibroblasts with wild-type PET117 restored the complex IV deficiency, proving that the gene defect is responsible for the complex IV deficiency in the patients, and indicating a pivotal role of this protein in the proper functioning of complex IV. 28386624 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117
0.310 Biomarker disease BEFREE Lentiviral complementation of patient fibroblasts with wild-type PET117 restored the complex IV deficiency, proving that the gene defect is responsible for the complex IV deficiency in the patients, and indicating a pivotal role of this protein in the proper functioning of complex IV. 28386624 2017