Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 Biomarker disease BEFREE We performed an extensive CYP1A2 gene analysis in 96 (48 fPCT and 48 sPCT) unrelated French caucasian patients with PCT and in 99 healthy volunteers of similar ethnic origin. 21929532 2012
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 GeneticVariation disease BEFREE The CYP1A2*1F promoter A allele frequency was significantly higher (P < 0.022) and the A/A genotype frequency marginally higher in PCT patients overall (P < 0.057), with the A/A genotype significantly more common in type 1 PCT (P < 0.043). 20957336 2011
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 GeneticVariation disease BEFREE We found an increase in the frequency of CYP1A2 g-163A allele in patients with PCT when compared with controls, although the more inducible A/A genotype had no effect on the onset age. 20163457 2010
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 Biomarker disease BEFREE The results indicate that human CYP1A2 can support URO accumulation in hepatoma cells and thus may play a role in human PCT. 12566081 2003
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 Biomarker disease LHGDN The results indicate that human CYP1A2 can support URO accumulation in hepatoma cells and thus may play a role in human PCT. 12566081 2003
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 GeneticVariation disease BEFREE Association of CYP1A2 polymorphisms with susceptibility to both types of PCT has already been described in Danish patients. 14714565 2003
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 Biomarker disease CTD_human In this study, we have examined a group of Danish patients with PCT for the presence of the C/A polymorphism in intron 1 of CYP1A2. 11153915 2000
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.360 GeneticVariation disease BEFREE In this study, we have examined a group of Danish patients with PCT for the presence of the C/A polymorphism in intron 1 of CYP1A2. 11153915 2000