Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268540
Disease: HHH syndrome
HHH syndrome 		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
CUI: C0268540
Disease: HHH syndrome
HHH syndrome 		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
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn 		0.010 Biomarker group BEFREE As such, ORNT2 may eventually become a candidate for pharmacological-based approaches to correct a urea cycle disorder. 12948741 2003