Source: CURATED ×
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | GeneticVariation | disease | UNIPROT | Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. | 16552426 | 2006 | ||||
|
0.600 | GeneticVariation | disease | UNIPROT | A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. | 12384833 | 2002 | ||||
|
0.600 | GeneticVariation | disease | UNIPROT | Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. | 9611072 | 1998 | ||||
|
0.600 | Biomarker | disease | CTD_human | |||||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.500 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.500 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.500 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.500 | Biomarker | disease | CTD_human | |||||||
|
0.500 | Biomarker | disease | CTD_human | |||||||
|
0.500 | Biomarker | disease | CTD_human |