Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.020 GeneticVariation group BEFREE The CT genotype and C allele of rs2276731 in ALDH1L1 significantly were associated with an increased incidence of NTDs (OR = 1.67, 95 % CI 1.129-2.491 with genotype, and OR = 1.32, 95 % CI 0.956-1.816 with allele).The polymorphic loci rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene maybe potential risk factors for NTDs in the Chinese population. 26993122 2016
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.020 Biomarker group BEFREE The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. 17111379 2007