Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100303755
Gene Symbol: PET117
PET117
0.300 Biomarker disease CLINGEN Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. 28386624 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117
0.300 Biomarker disease CLINGEN The Assembly Factor Pet117 Couples Heme a Synthase Activity to Cytochrome Oxidase Assembly. 27998984 2017
Entrez Id: 100303755
Gene Symbol: PET117
PET117
0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015