Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100131801
Gene Symbol: PET100
PET100
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.620 Biomarker GENOMICS_ENGLAND Our report confirms PET100 mutation as an important cause of isolated complex IV deficiency outside of the Lebanese population, extending the phenotypic spectrum associated with abnormalities within this gene. 25293719

2015

Entrez Id: 100131801
Gene Symbol: PET100
PET100
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.620 Biomarker GENOMICS_ENGLAND A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 24462369

2014

Entrez Id: 100131801
Gene Symbol: PET100
PET100
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.620 Biomarker GENOMICS_ENGLAND SURF1 deficiency: a multi-centre natural history study. 23829769

2013

Entrez Id: 100131801
Gene Symbol: PET100
PET100
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.620 Biomarker GENOMICS_ENGLAND