Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100131801
Gene Symbol: PET100
PET100
0.620 GeneticVariation disease BEFREE 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
0.620 Biomarker disease 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
0.620 CausalMutation disease CLINVAR 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
0.620 GeneticVariation disease BEFREE 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
0.620 Biomarker disease 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
0.620 Biomarker disease GENOMICS_ENGLAND SURF1 deficiency: a multi-centre natural history study. 23829769 2013
Entrez Id: 100131801
Gene Symbol: PET100
PET100
0.620 Biomarker disease CTD_human
Entrez Id: 100131801
Gene Symbol: PET100
PET100
0.620 Biomarker disease GENOMICS_ENGLAND