Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		0.100 Biomarker phenotype HPO
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.370 GeneticVariation disease LHGDN Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and cystathionine beta-synthase (CBS) genes, involved in the intracellular metabolism of homocysteine (Hcy), can result in hyperhomocysteinemia. 18792976 2008
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.180 GeneticVariation disease LHGDN Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. 12590188 2003
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.180 GeneticVariation disease LHGDN The MTRR 66GG genotype increased maternal spina bifida risk by 2.1-fold (OR 2.1, 95% CI 1.3-3.3). 17024475 2006
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.180 GeneticVariation disease LHGDN For both variants, the risk of having a child with spina bifida appears to increase with the number of high-risk alleles in the maternal genotype: MTR (R1=2.16, 95% CI 0.92-5.06; R2=6.58, 95% CI 0.87-49.67) and MTRR (R1=2.05, 95% CI 1.05-3.99; R2=3.15, 95% CI 0.92-10.85). 12375236 2002
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease 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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 GeneticVariation group LHGDN Results of screening mutations 2756A-->G and 66A-->G in MTR and MTRR genes respectively show that are might have an effect on NTDs incidence among the examined population. 12810988 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 GeneticVariation disease LHGDN 2756GG genotype of methionine synthase reductase gene is more prevalent in rheumatoid arthritis patients treated with methotrexate and is associated with methotrexate-induced nodulosis. 17611986 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 GeneticVariation group LHGDN MTRR 66A>G polymorphism in relation to congenital heart defects. 17087642 2006
CUI: C0025286
Disease: Meningioma
Meningioma 		0.030 GeneticVariation disease LHGDN A significant association between risk of meningioma and homozygosity for MTRR 66G was also observed (OR, 1.41; 95% CI, 1.02-1.94). 18483342 2008
CUI: C0017638
Disease: Glioma
Glioma 		0.020 GeneticVariation disease LHGDN To test the hypothesis that polymorphic variation in the folate metabolism genes 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTRR), and methionine synthase reductase (MTR) influences the risk of primary brain tumors, we genotyped 1,005 glioma cases, 631 meningioma cases, and 1,101 controls for the MTHFR C677A and A1298C, MTRR A66G, and MTR A2756G variants. 18483342 2008
CUI: C0023418
Disease: leukemia
leukemia 		0.020 GeneticVariation disease LHGDN Thus, the studied polymorphic variants of genes GSTT1, GSTM1, NAT2 and MTRR can modulate the risk of childhood acute leukemia, residents of European part of Russia. 18610829 2008
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 GeneticVariation disease LHGDN These results suggest that MTHFR C677T, A1298C, MTRR A66G, TS 2R-->3R, and 6-bp deletion/insertion do not significantly factor into the pathogenesis of MM in the Korean population, but that MS A2756G polymorphism may play an important role. 17546637 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease LHGDN MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease LHGDN Methionine synthase polymorphism is a risk factor for Alzheimer disease. 12876480 2003
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 GeneticVariation disease LHGDN MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.010 GeneticVariation group LHGDN Polymorphisms of methionine synthase and methionine synthase reductase and risk of squamous cell carcinoma of the head and neck: a case-control analysis. 15894670 2005