Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83884
Gene Symbol: SLC25A2
SLC25A2
0.020 GeneticVariation disease BEFREE Results demonstrated that both HHH015 patients are heterozygous for an ORNT2 gain of function polymorphism and belong to haplogroup A whereas the HHH013 siblings carry the wild-type ORNT2 and are haplogroup H. These observations suggest that the ORNT1 genotype cannot predict the phenotype of HHH patients. 16940241 2006
Entrez Id: 83884
Gene Symbol: SLC25A2
SLC25A2
0.020 Biomarker disease BEFREE Our results suggest that ORNT2 may in part be responsible for the milder phenotype in HHH patients secondary to a gene redundancy effect. 12948741 2003