Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation LHGDN MTHFR and MTRR gene mutation alleles are related to Down syndrome, and CT, TT and GG gene mutation types increase the risk of Down syndrome. 18257130

2008
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation LHGDN The double heterozygosity MTR 2756 AG/MTRR 66 AG was the single combined genotype that was a significant risk factor for having a DS child, with an OR estimated at 5.0 (95% CI: 1.1-24.1), after adjustment for t-Hcys. 12923861

2003